Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	5080
Gene name Gene Name - the full gene name approved by the HGNC.	Paired box 6
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	PAX6
Synonyms (NCBI Gene) Gene synonyms aliases	AN, AN1, AN2, ASGD5, D11S812E, FVH1, MGDA, WAGR
Chromosome Chromosome number	11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	11p13
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes paired box protein Pax-6, one of many human homologs of the Drosophila melanogaster gene prd. In addition to a conserved paired box domain, a hallmark feature of this gene family, the encoded protein also contains a homeobox domain. Both

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SNP ID	Visualize variation	Clinical significance	Consequence
rs121907912	G>A	Pathogenic	Upstream transcript variant, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, stop gained, non coding transcript variant
rs121907913	G>A,C	Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, genic upstream transcript variant, intron variant, 5 prime UTR variant, missense variant, non coding transcript variant
rs121907914	G>A	Pathogenic	Upstream transcript variant, coding sequence variant, genic upstream transcript variant, intron variant, 5 prime UTR variant, stop gained, non coding transcript variant
rs121907915	G>C	Pathogenic	Genic downstream transcript variant, coding sequence variant, intron variant, stop gained, non coding transcript variant
rs121907916	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs121907917	G>A	Pathogenic	Coding sequence variant, stop gained, intron variant
rs121907918	G>A,T	Uncertain-significance, pathogenic	Upstream transcript variant, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, missense variant, non coding transcript variant
rs121907919	A>T	Pathogenic	Upstream transcript variant, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, missense variant, non coding transcript variant
rs121907920	C>A	Pathogenic	Upstream transcript variant, coding sequence variant, genic upstream transcript variant, intron variant, 5 prime UTR variant, missense variant, non coding transcript variant
rs121907921	A>T	Pathogenic	Upstream transcript variant, coding sequence variant, genic upstream transcript variant, intron variant, 5 prime UTR variant, missense variant, non coding transcript variant
rs121907923	G>A	Pathogenic	Upstream transcript variant, coding sequence variant, genic upstream transcript variant, intron variant, 5 prime UTR variant, missense variant, non coding transcript variant
rs121907924	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs121907925	A>G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs121907927	C>G	Pathogenic	Coding sequence variant, intron variant, missense variant
rs121907928	G>A,C,T	Pathogenic	Synonymous variant, upstream transcript variant, coding sequence variant, genic upstream transcript variant, intron variant, 5 prime UTR variant, missense variant, non coding transcript variant
rs121907929	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs141873759	G>A,T	Benign, pathogenic	Synonymous variant, coding sequence variant, genic upstream transcript variant, intron variant, 5 prime UTR variant, stop gained, non coding transcript variant
rs151086737	G>A,T	Pathogenic	Stop gained, upstream transcript variant, missense variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant
rs397514640	G>A,C	Pathogenic	Missense variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant, intron variant
rs398123295	C>T	Pathogenic	Upstream transcript variant, genic upstream transcript variant, 5 prime UTR variant, splice donor variant, intron variant
rs398123296	C>-	Pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant, 5 prime UTR variant, intron variant
rs587776571	T>A	Pathogenic	Splice acceptor variant
rs587776572	C>G	Pathogenic	Intron variant, genic upstream transcript variant, upstream transcript variant
rs587778874	C>A	Pathogenic	Genic upstream transcript variant, 5 prime UTR variant, upstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs727504064	G>A,T	Pathogenic, uncertain-significance	Genic upstream transcript variant, 5 prime UTR variant, upstream transcript variant, coding sequence variant, missense variant, synonymous variant, non coding transcript variant
rs757259413	G>A	Likely-pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs759557055	C>A,G,T	Likely-pathogenic	Missense variant, genic upstream transcript variant, intron variant, non coding transcript variant, coding sequence variant, upstream transcript variant, 5 prime UTR variant
rs760490431	G>A,C	Pathogenic	Genic upstream transcript variant, stop gained, synonymous variant, intron variant, non coding transcript variant, coding sequence variant, upstream transcript variant, 5 prime UTR variant
rs763807196	G>A	Likely-pathogenic	Genic upstream transcript variant, synonymous variant, intron variant, non coding transcript variant, coding sequence variant, upstream transcript variant, 5 prime UTR variant
rs769095184	C>G,T	Likely-pathogenic	Upstream transcript variant, intron variant, genic upstream transcript variant, non coding transcript variant, missense variant, coding sequence variant, 5 prime UTR variant
rs773606401	G>-,GG	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant
rs775355156	T>A,G	Pathogenic	Upstream transcript variant, intron variant, genic upstream transcript variant, non coding transcript variant, synonymous variant, stop gained, coding sequence variant, 5 prime UTR variant
rs786205467	G>A,C	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant, synonymous variant
rs794726661	T>C	Pathogenic	Genic downstream transcript variant, splice acceptor variant, intron variant
rs797044627	->TGGTTGGTAGACACTG	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs864309686	A>T	Likely-pathogenic	Missense variant, upstream transcript variant, genic upstream transcript variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant, intron variant
rs878852979	A>T	Pathogenic	Splice donor variant, upstream transcript variant, genic upstream transcript variant
rs886041221	T>-	Pathogenic	Upstream transcript variant, genic upstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs886041222	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs886041679	C>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs886042838	C>-	Pathogenic	Upstream transcript variant, splice acceptor variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs886043350	C>-	Pathogenic	Upstream transcript variant, genic upstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant
rs886044223	G>C,T	Uncertain-significance, likely-pathogenic	Genic downstream transcript variant, intron variant
rs886044289	C>G	Pathogenic, likely-pathogenic	Missense variant, genic upstream transcript variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant, intron variant
rs1057517780	C>-,CC	Pathogenic	Intron variant, genic upstream transcript variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant, frameshift variant
rs1057517782	A>C	Pathogenic	Intron variant, genic upstream transcript variant, missense variant, splice donor variant, coding sequence variant
rs1057517783	C>A,G,T	Pathogenic	Splice donor variant
rs1057517784	A>T	Likely-pathogenic	Intron variant
rs1057517785	G>A,C	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant, missense variant
rs1057520755	C>T	Pathogenic	Upstream transcript variant, genic upstream transcript variant, non coding transcript variant, stop gained, coding sequence variant
rs1057523821	G>C	Pathogenic	Intron variant
rs1064793223	G>A	Uncertain-significance, likely-pathogenic	Intron variant, upstream transcript variant, synonymous variant, genic upstream transcript variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant
rs1131691426	C>-	Pathogenic	Genic downstream transcript variant, intron variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1131691549	A>G	Pathogenic	Splice donor variant
rs1131691570	TCAC>-	Pathogenic	Intron variant, upstream transcript variant, genic upstream transcript variant, non coding transcript variant, splice donor variant, 5 prime UTR variant, coding sequence variant, frameshift variant
rs1131692282	T>-	Pathogenic	Genic upstream transcript variant, upstream transcript variant, intron variant, splice acceptor variant
rs1131692284	T>C,G	Pathogenic	Initiator codon variant, intron variant, upstream transcript variant, genic upstream transcript variant, non coding transcript variant, missense variant, 5 prime UTR variant, coding sequence variant
rs1131692285	C>A,G	Pathogenic, likely-pathogenic	Intron variant, genic upstream transcript variant, non coding transcript variant, stop gained, missense variant, 5 prime UTR variant, coding sequence variant
rs1131692286	C>-	Pathogenic	Intron variant, genic upstream transcript variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant, frameshift variant
rs1131692287	AA>G	Pathogenic	Intron variant, genic upstream transcript variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant, frameshift variant
rs1131692289	T>C,G	Pathogenic	Intron variant, genic upstream transcript variant, non coding transcript variant, missense variant, 5 prime UTR variant, coding sequence variant
rs1131692290	T>A,C	Pathogenic, likely-pathogenic	Genic upstream transcript variant, intron variant, coding sequence variant, missense variant
rs1131692291	G>C	Likely-pathogenic	Genic upstream transcript variant, intron variant, upstream transcript variant
rs1131692292	A>C,G	Likely-pathogenic	Genic upstream transcript variant, intron variant, upstream transcript variant
rs1131692293	C>T	Pathogenic	Upstream transcript variant, genic upstream transcript variant, non coding transcript variant, missense variant, 5 prime UTR variant, coding sequence variant
rs1131692294	T>G	Likely-pathogenic	Intron variant, upstream transcript variant, genic upstream transcript variant, non coding transcript variant, missense variant, 5 prime UTR variant, coding sequence variant
rs1131692295	C>A	Pathogenic	Intron variant, upstream transcript variant, genic upstream transcript variant, non coding transcript variant, stop gained, 5 prime UTR variant, coding sequence variant
rs1131692296	C>A	Pathogenic	Intron variant, upstream transcript variant, genic upstream transcript variant, non coding transcript variant, stop gained, 5 prime UTR variant, coding sequence variant
rs1131692297	G>A	Pathogenic	Intron variant, upstream transcript variant, genic upstream transcript variant, non coding transcript variant, stop gained, 5 prime UTR variant, coding sequence variant
rs1131692298	->AAGA	Pathogenic	Intron variant, upstream transcript variant, genic upstream transcript variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant, frameshift variant
rs1131692299	AAGCAA>TGAAC	Pathogenic	Intron variant, upstream transcript variant, genic upstream transcript variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant, frameshift variant
rs1131692300	C>T	Pathogenic	Intron variant, upstream transcript variant, genic upstream transcript variant, non coding transcript variant, stop gained, 5 prime UTR variant, coding sequence variant
rs1131692301	G>-	Pathogenic	Intron variant, upstream transcript variant, genic upstream transcript variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant, frameshift variant
rs1131692302	TTTATTG>-	Pathogenic	Upstream transcript variant, genic upstream transcript variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant, frameshift variant
rs1131692303	T>-	Pathogenic	Upstream transcript variant, genic upstream transcript variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant, frameshift variant
rs1131692304	G>A	Pathogenic	Upstream transcript variant, genic upstream transcript variant, non coding transcript variant, stop gained, 5 prime UTR variant, coding sequence variant
rs1131692305	CCCGT>GTTCCGG	Pathogenic	Upstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1131692306	C>T	Pathogenic	Upstream transcript variant, genic upstream transcript variant, non coding transcript variant, stop gained, coding sequence variant
rs1131692307	G>-	Pathogenic	Upstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1131692308	G>A	Pathogenic	Upstream transcript variant, genic upstream transcript variant, non coding transcript variant, stop gained, coding sequence variant
rs1131692309	G>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1131692310	C>G	Pathogenic	Intron variant, splice acceptor variant
rs1131692312	T>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1131692313	T>-,TT	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1131692314	C>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1131692315	G>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1131692316	A>C	Likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs1131692317	CTGG>-	Pathogenic	Genic downstream transcript variant, intron variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1329112134	G>A,T	Pathogenic	5 prime UTR variant, genic upstream transcript variant, stop gained, coding sequence variant, intron variant, non coding transcript variant, synonymous variant
rs1357628990	C>-,CC,CCC	Pathogenic	Coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, upstream transcript variant, non coding transcript variant, frameshift variant, intron variant
rs1388158419	G>A,C	Likely-pathogenic	5 prime UTR variant, non coding transcript variant, intron variant, genic upstream transcript variant, coding sequence variant, missense variant, synonymous variant
rs1554982609	->GAGTA	Pathogenic	Coding sequence variant, intron variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1554982615	TCTGGCTGGGG>-	Pathogenic	Coding sequence variant, intron variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1554983140	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554983229	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1554983238	C>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1554983251	T>G	Pathogenic	Splice acceptor variant
rs1554983571	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, 5 prime UTR variant
rs1554983577	->G	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, 5 prime UTR variant
rs1554983586	G>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, 5 prime UTR variant
rs1554984996	C>-	Pathogenic	Coding sequence variant, upstream transcript variant, non coding transcript variant, frameshift variant, genic upstream transcript variant
rs1554985024	C>-	Pathogenic	Coding sequence variant, upstream transcript variant, non coding transcript variant, frameshift variant, genic upstream transcript variant
rs1554985028	C>T	Pathogenic	Stop gained, coding sequence variant, upstream transcript variant, non coding transcript variant, genic upstream transcript variant
rs1554985100	G>C,T	Pathogenic, likely-pathogenic	5 prime UTR variant, stop gained, coding sequence variant, upstream transcript variant, non coding transcript variant, genic upstream transcript variant
rs1554985282	T>A	Pathogenic	Genic upstream transcript variant, upstream transcript variant, intron variant, 5 prime UTR variant
rs1554985285	->A	Pathogenic	5 prime UTR variant, upstream transcript variant, intron variant, splice donor variant, genic upstream transcript variant
rs1554985305	C>A	Pathogenic	5 prime UTR variant, stop gained, coding sequence variant, upstream transcript variant, intron variant, non coding transcript variant, genic upstream transcript variant
rs1554985320	C>T	Pathogenic	5 prime UTR variant, stop gained, coding sequence variant, upstream transcript variant, intron variant, non coding transcript variant, genic upstream transcript variant
rs1554985335	C>-	Pathogenic	5 prime UTR variant, coding sequence variant, upstream transcript variant, intron variant, non coding transcript variant, frameshift variant, genic upstream transcript variant
rs1554985378	->GAGT	Pathogenic	5 prime UTR variant, coding sequence variant, upstream transcript variant, intron variant, non coding transcript variant, frameshift variant, genic upstream transcript variant
rs1554985430	G>T	Likely-pathogenic	5 prime UTR variant, coding sequence variant, missense variant, upstream transcript variant, non coding transcript variant, genic upstream transcript variant
rs1554985709	ACCTGCAGAATTC>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant, intron variant, non coding transcript variant, splice donor variant, genic upstream transcript variant
rs1554985714	C>G,T	Pathogenic	Coding sequence variant, missense variant, intron variant, splice donor variant, genic upstream transcript variant
rs1554985716	G>A	Pathogenic	5 prime UTR variant, stop gained, coding sequence variant, intron variant, non coding transcript variant, genic upstream transcript variant
rs1554985722	C>G	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant, intron variant, non coding transcript variant, genic upstream transcript variant
rs1554985737	CACGGCCG>-	Pathogenic	5 prime UTR variant, coding sequence variant, intron variant, non coding transcript variant, frameshift variant, genic upstream transcript variant
rs1554986754	C>A,T	Pathogenic	Initiator codon variant, 5 prime UTR variant, coding sequence variant, missense variant, upstream transcript variant, intron variant, non coding transcript variant, genic upstream transcript variant
rs1554986858	AA>-,AAA	Likely-benign, likely-pathogenic	5 prime UTR variant, upstream transcript variant, intron variant, non coding transcript variant, genic upstream transcript variant
rs1565200471	->CT	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1565238322	A>T	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant, upstream transcript variant, intron variant, non coding transcript variant, genic upstream transcript variant
rs1565245598	->C,CC	Pathogenic	5 prime UTR variant, coding sequence variant, intron variant, non coding transcript variant, frameshift variant, genic upstream transcript variant
rs1565245835	CGCTG>GGTT	Pathogenic	5 prime UTR variant, coding sequence variant, intron variant, non coding transcript variant, frameshift variant, genic upstream transcript variant
rs1565246499	C>G	Uncertain-significance, pathogenic	5 prime UTR variant, coding sequence variant, missense variant, intron variant, non coding transcript variant, genic upstream transcript variant
rs1565264372	ACTT>CA	Pathogenic	Upstream transcript variant, intron variant, genic upstream transcript variant
rs1565264387	C>-	Pathogenic	Upstream transcript variant, intron variant, genic upstream transcript variant
rs1565264399	TT>-	Pathogenic	Upstream transcript variant, intron variant, genic upstream transcript variant
rs1565277245	C>T	Pathogenic	Upstream transcript variant, splice donor variant, genic upstream transcript variant
rs1592369500	G>C	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, intron variant, genic downstream transcript variant
rs1592369895	->G	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, intron variant, genic downstream transcript variant
rs1592370052	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, intron variant, genic downstream transcript variant
rs1592370265	C>T	Pathogenic	Intron variant, genic downstream transcript variant, splice acceptor variant
rs1592409736	->AGGTTATTTGCCA	Pathogenic	Inframe insertion, coding sequence variant, stop gained, non coding transcript variant
rs1592409876	ATTT>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1592410582	GT>-	Pathogenic	Inframe indel, coding sequence variant, stop gained, non coding transcript variant
rs1592411896	AA>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1592412022	C>G,T	Pathogenic	Splice acceptor variant
rs1592414464	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1592415563	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1592415625	CT>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1592415745	CA>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1592415868	T>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1592415958	T>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1592416305	->A	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1592416453	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1592416538	C>G,T	Pathogenic	Splice acceptor variant
rs1592420967	C>G	Pathogenic	Missense variant, intron variant, coding sequence variant
rs1592421398	CA>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1592421981	A>G	Likely-pathogenic	Intron variant
rs1592422097	G>C	Likely-pathogenic	Intron variant
rs1592433022	T>C	Likely-pathogenic	Synonymous variant, coding sequence variant, non coding transcript variant
rs1592433545	T>C	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1592433606	CTTT>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1592434096	G>-	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained, non coding transcript variant
rs1592435423	C>-	Pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant, non coding transcript variant
rs1592435527	CTGGAACAAAAAGAAT>-	Pathogenic	5 prime UTR variant, coding sequence variant, non coding transcript variant, intron variant, splice acceptor variant
rs1592435632	C>T	Pathogenic	Splice acceptor variant
rs1592435653	T>C	Pathogenic	Splice acceptor variant
rs1592530126	A>C	Pathogenic	Upstream transcript variant, stop gained, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs1592530379	G>-	Pathogenic	Upstream transcript variant, frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs1592530521	->T	Pathogenic	Upstream transcript variant, frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs1592531953	C>A,T	Likely-pathogenic	Upstream transcript variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs1592532084	CT>-	Pathogenic	Upstream transcript variant, 5 prime UTR variant, frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs1592532169	->T	Pathogenic	Upstream transcript variant, 5 prime UTR variant, frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs1592532561	C>T	Pathogenic	Upstream transcript variant, genic upstream transcript variant, splice acceptor variant
rs1592532580	T>C	Pathogenic	Upstream transcript variant, genic upstream transcript variant, splice acceptor variant
rs1592542002	C>T	Likely-pathogenic	Upstream transcript variant, intron variant, 5 prime UTR variant, genic upstream transcript variant
rs1592542060	ACGCTT>-	Pathogenic	Upstream transcript variant, splice donor variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, intron variant
rs1592542273	CTTGGTATG>-	Likely-pathogenic	Upstream transcript variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, inframe deletion, intron variant
rs1592542343	ATGTTAT>-	Pathogenic	Upstream transcript variant, 5 prime UTR variant, frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, intron variant
rs1592542615	AGACC>-	Pathogenic	Upstream transcript variant, 5 prime UTR variant, frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, intron variant
rs1592542705	G>T	Likely-pathogenic	Upstream transcript variant, synonymous variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, intron variant
rs1592542942	TC>CTG	Pathogenic	Upstream transcript variant, 5 prime UTR variant, frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, intron variant
rs1592543032	C>-	Pathogenic	Upstream transcript variant, 5 prime UTR variant, frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, intron variant
rs1592543499	AAAGATGGAC>-	Pathogenic	Upstream transcript variant, 5 prime UTR variant, frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, intron variant
rs1592543841	C>-	Pathogenic	Upstream transcript variant, 5 prime UTR variant, frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, intron variant
rs1592544327	T>-	Pathogenic	Upstream transcript variant, stop gained, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, intron variant
rs1592544553	->T	Pathogenic	Upstream transcript variant, 5 prime UTR variant, frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, intron variant
rs1592545392	->G	Pathogenic	Upstream transcript variant, 5 prime UTR variant, frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, intron variant
rs1592545972	A>G	Likely-pathogenic	Upstream transcript variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant, intron variant
rs1592546024	T>-	Pathogenic	Upstream transcript variant, 5 prime UTR variant, frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, intron variant
rs1592546120	T>A	Pathogenic	Upstream transcript variant, stop gained, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, intron variant
rs1592546273	A>C	Pathogenic	Upstream transcript variant, splice donor variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs1592546340	->CCGTTGGACACCT	Pathogenic	Upstream transcript variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, splice acceptor variant
rs1592546566	C>T	Pathogenic	Upstream transcript variant, genic upstream transcript variant, splice acceptor variant
rs1592546589	T>C	Pathogenic	Upstream transcript variant, genic upstream transcript variant, splice acceptor variant
rs1592562717	AAATGTCGCACGGCCGGG>-	Likely-pathogenic	5 prime UTR variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, inframe deletion, intron variant
rs1592562836	G>A	Likely-pathogenic	5 prime UTR variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant, intron variant
rs1592562910	A>C	Likely-pathogenic	5 prime UTR variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant, intron variant
rs1592563047	C>-	Pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, intron variant
rs1592563240	->GG	Pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, intron variant
rs1592563333	->CGGGCCCC	Pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, intron variant
rs1592563428	G>-	Pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, intron variant
rs1592563502	G>TGTGAGCTA	Pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, intron variant
rs1592563636	C>A,T	Likely-pathogenic	5 prime UTR variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant, intron variant
rs1592563721	G>C	Likely-pathogenic	5 prime UTR variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant, intron variant
rs1592564013	TGGAGTCCGG>-	Pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, intron variant
rs1592564157	A>-	Pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, intron variant
rs1592564219	CGCCCGTTGAC>-	Pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, intron variant
rs1592564366	C>G	Likely-pathogenic	5 prime UTR variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant, intron variant
rs1592564672	C>-	Pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, intron variant
rs1592564908	T>C	Pathogenic	Intron variant, 5 prime UTR variant, genic upstream transcript variant, splice acceptor variant
rs1592610121	C>G	Pathogenic	Upstream transcript variant, splice donor variant, genic upstream transcript variant, intron variant
rs1592610205	G>-	Pathogenic	Upstream transcript variant, 5 prime UTR variant, frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, intron variant
rs1592614756	C>T	Pathogenic	Upstream transcript variant, splice donor variant, genic upstream transcript variant, intron variant
rs1592654547	CCTTTATGAGGCA>-	Pathogenic	Upstream transcript variant, splice donor variant, 5 prime UTR variant, genic upstream transcript variant, non coding transcript variant, initiator codon variant, intron variant

Show/Hide all(128)

miRTarBase ID	miRNA	Experiments	Reference
MIRT006925	hsa-miR-10b-5p	Luciferase reporter assay	23034333
MIRT053153	hsa-miR-365a-3p	GFP reporter assay, Western blot	23660406
MIRT438685	hsa-miR-223-3p	Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	23970099
MIRT438195	hsa-miR-7-5p	Luciferase reporter assay, Western blot,	25089088
MIRT438364	hsa-miR-140-5p	Luciferase reporter assay, Western blot	24530397
MIRT438364	hsa-miR-140-5p	Luciferase reporter assay, Western blot	24530397
MIRT438195	hsa-miR-7-5p	Luciferase reporter assay	24185687
MIRT438195	hsa-miR-7-5p	Luciferase reporter assay	24185687
MIRT438685	hsa-miR-223-3p	Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	23970099
MIRT438195	hsa-miR-7-5p	Luciferase reporter assay, Western blot,	25089088
MIRT438364	hsa-miR-140-5p	Luciferase reporter assay, Western blot	24530397
MIRT438364	hsa-miR-140-5p	Luciferase reporter assay, Western blot	24530397
MIRT438195	hsa-miR-7-5p	Luciferase reporter assay	24185687
MIRT438195	hsa-miR-7-5p	Luciferase reporter assay	24185687
MIRT716595	hsa-miR-6796-3p	HITS-CLIP	19536157
MIRT716596	hsa-miR-3145-5p	HITS-CLIP	19536157
MIRT716594	hsa-miR-508-5p	HITS-CLIP	19536157
MIRT716593	hsa-miR-6834-3p	HITS-CLIP	19536157
MIRT716592	hsa-miR-3121-5p	HITS-CLIP	19536157
MIRT716591	hsa-miR-6728-3p	HITS-CLIP	19536157
MIRT716590	hsa-miR-31-3p	HITS-CLIP	19536157
MIRT716589	hsa-miR-3194-3p	HITS-CLIP	19536157
MIRT716588	hsa-miR-488-3p	HITS-CLIP	19536157
MIRT716587	hsa-miR-510-3p	HITS-CLIP	19536157
MIRT497155	hsa-miR-3161	PAR-CLIP	22291592
MIRT497154	hsa-miR-599	PAR-CLIP	22291592
MIRT496217	hsa-miR-3929	PAR-CLIP	22291592
MIRT496216	hsa-miR-4419b	PAR-CLIP	22291592
MIRT496215	hsa-miR-4478	PAR-CLIP	22291592
MIRT496214	hsa-miR-4289	PAR-CLIP	22291592
MIRT496213	hsa-miR-203a-3p	PAR-CLIP	22291592
MIRT496212	hsa-miR-653-5p	PAR-CLIP	22291592
MIRT438195	hsa-miR-7-5p	Luciferase reporter assay, Western blot	26135959
MIRT438195	hsa-miR-7-5p	Luciferase reporter assay, Western blot	26135959
MIRT716588	hsa-miR-488-3p	Luciferase reporter assay, qRT-PCR, Western blot	26738864
MIRT716588	hsa-miR-488-3p	Luciferase reporter assay, qRT-PCR, Western blot	26738864
MIRT735083	hsa-miR-183-3p	Western blotting, Immunoprecipitaion (IP), qRT-PCR, Flow cytometry	32875669
MIRT735085	hsa-miR-96-5p	Western blotting, Immunoprecipitaion (IP), qRT-PCR, Flow cytometry	32875669
MIRT735087	hsa-miR-182-5p	Western blotting, qRT-PCR, Flow cytometry	32875669
MIRT716595	hsa-miR-6796-3p	HITS-CLIP	19536157
MIRT716596	hsa-miR-3145-5p	HITS-CLIP	19536157
MIRT716594	hsa-miR-508-5p	HITS-CLIP	19536157
MIRT716593	hsa-miR-6834-3p	HITS-CLIP	19536157
MIRT716592	hsa-miR-3121-5p	HITS-CLIP	19536157
MIRT716591	hsa-miR-6728-3p	HITS-CLIP	19536157
MIRT716590	hsa-miR-31-3p	HITS-CLIP	19536157
MIRT716589	hsa-miR-3194-3p	HITS-CLIP	19536157
MIRT716588	hsa-miR-488-3p	HITS-CLIP	19536157
MIRT716587	hsa-miR-510-3p	HITS-CLIP	19536157
MIRT497155	hsa-miR-3161	PAR-CLIP	22291592
MIRT497154	hsa-miR-599	PAR-CLIP	22291592
MIRT496217	hsa-miR-3929	PAR-CLIP	22291592
MIRT496216	hsa-miR-4419b	PAR-CLIP	22291592
MIRT496215	hsa-miR-4478	PAR-CLIP	22291592
MIRT496214	hsa-miR-4289	PAR-CLIP	22291592
MIRT496213	hsa-miR-203a-3p	PAR-CLIP	22291592
MIRT496212	hsa-miR-653-5p	PAR-CLIP	22291592
MIRT1215349	hsa-miR-1290	CLIP-seq
MIRT1215350	hsa-miR-2110	CLIP-seq
MIRT1215351	hsa-miR-300	CLIP-seq
MIRT1215352	hsa-miR-3140-3p	CLIP-seq
MIRT1215353	hsa-miR-3150a-3p	CLIP-seq
MIRT1215354	hsa-miR-381	CLIP-seq
MIRT1215355	hsa-miR-4260	CLIP-seq
MIRT1215356	hsa-miR-4450	CLIP-seq
MIRT1215357	hsa-miR-4494	CLIP-seq
MIRT1215358	hsa-miR-4666-3p	CLIP-seq
MIRT1215359	hsa-miR-4778-3p	CLIP-seq
MIRT1215360	hsa-miR-4789-5p	CLIP-seq
MIRT1215361	hsa-miR-499a-5p	CLIP-seq
MIRT1215362	hsa-miR-579	CLIP-seq
MIRT1215363	hsa-miR-664	CLIP-seq
MIRT1215364	hsa-miR-148a	CLIP-seq
MIRT1215365	hsa-miR-148b	CLIP-seq
MIRT1215366	hsa-miR-152	CLIP-seq
MIRT1215367	hsa-miR-298	CLIP-seq
MIRT1215368	hsa-miR-3124-3p	CLIP-seq
MIRT1215369	hsa-miR-3158-5p	CLIP-seq
MIRT1215370	hsa-miR-3944-5p	CLIP-seq
MIRT1215357	hsa-miR-4494	CLIP-seq
MIRT1215371	hsa-miR-4710	CLIP-seq
MIRT1215372	hsa-miR-4789-3p	CLIP-seq
MIRT1215373	hsa-miR-4792	CLIP-seq
MIRT1215374	hsa-miR-489	CLIP-seq
MIRT1215375	hsa-miR-502-5p	CLIP-seq
MIRT1215376	hsa-miR-548a-3p	CLIP-seq
MIRT1215377	hsa-miR-548ae	CLIP-seq
MIRT1215378	hsa-miR-548aj	CLIP-seq
MIRT1215379	hsa-miR-548am	CLIP-seq
MIRT1215380	hsa-miR-548e	CLIP-seq
MIRT1215381	hsa-miR-548f	CLIP-seq
MIRT1215382	hsa-miR-548x	CLIP-seq
MIRT1215383	hsa-miR-218	CLIP-seq
MIRT1215384	hsa-miR-3977	CLIP-seq
MIRT1215385	hsa-miR-4317	CLIP-seq
MIRT1215357	hsa-miR-4494	CLIP-seq
MIRT1215386	hsa-miR-518a-5p	CLIP-seq
MIRT1215387	hsa-miR-527	CLIP-seq
MIRT1215388	hsa-miR-636	CLIP-seq
MIRT2290483	hsa-miR-1179	CLIP-seq
MIRT2290484	hsa-miR-1324	CLIP-seq
MIRT2290485	hsa-miR-1910	CLIP-seq
MIRT2290486	hsa-miR-3137	CLIP-seq
MIRT2290487	hsa-miR-3160-3p	CLIP-seq
MIRT2290488	hsa-miR-376c	CLIP-seq
MIRT2290489	hsa-miR-4269	CLIP-seq
MIRT2290490	hsa-miR-4275	CLIP-seq
MIRT2290491	hsa-miR-4487	CLIP-seq
MIRT2290492	hsa-miR-451b	CLIP-seq
MIRT1215372	hsa-miR-4789-3p	CLIP-seq
MIRT2290493	hsa-miR-495	CLIP-seq
MIRT2290494	hsa-miR-558	CLIP-seq
MIRT2392163	hsa-miR-1184	CLIP-seq
MIRT2392164	hsa-miR-1205	CLIP-seq
MIRT2392165	hsa-miR-1301	CLIP-seq
MIRT1215369	hsa-miR-3158-5p	CLIP-seq
MIRT2392166	hsa-miR-4468	CLIP-seq
MIRT2392167	hsa-miR-4660	CLIP-seq
MIRT2392168	hsa-miR-4663	CLIP-seq
MIRT2392169	hsa-miR-5047	CLIP-seq
MIRT2687199	hsa-miR-132	CLIP-seq
MIRT2687200	hsa-miR-212	CLIP-seq
MIRT2687201	hsa-miR-411	CLIP-seq
MIRT1215376	hsa-miR-548a-3p	CLIP-seq
MIRT1215380	hsa-miR-548e	CLIP-seq
MIRT1215381	hsa-miR-548f	CLIP-seq
MIRT2687202	hsa-miR-606	CLIP-seq
MIRT2687203	hsa-miR-936	CLIP-seq

Transcription factors

Show/Hide all(10)

Transcription factor	Regulation	Reference
CTCF	Activation	16723452
CTCF	Repression	16723452
CTCF	Unknown	15096508;17122106
FOXA2	Repression	22911885
OTX2	Activation	22085933
SIRT1	Repression	20631301
SOX2	Activation	20739473
SOX2	Repression	20739473
SP1	Unknown	11574690
TFCP2	Activation	11574690

Show/Hide all(142)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	ISS
GO:0000132	Process	Establishment of mitotic spindle orientation	IEA
GO:0000785	Component	Chromatin	IDA	20592023
GO:0000785	Component	Chromatin	IEA
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription cis-regulatory region binding	IEA
GO:0000976	Function	Transcription cis-regulatory region binding	ISS
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	20592023, 24802670
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0000979	Function	RNA polymerase II core promoter sequence-specific DNA binding	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IDA	20592023
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001221	Function	Transcription coregulator binding	IEA
GO:0001221	Function	Transcription coregulator binding	ISS
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	24802670
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0001568	Process	Blood vessel development	IMP	7550230
GO:0001654	Process	Eye development	TAS	10747901
GO:0001709	Process	Cell fate determination	IEA
GO:0001764	Process	Neuron migration	IEA
GO:0002052	Process	Positive regulation of neuroblast proliferation	IEA
GO:0002088	Process	Lens development in camera-type eye	IEA
GO:0003002	Process	Regionalization	IEA
GO:0003309	Process	Type B pancreatic cell differentiation	IBA
GO:0003309	Process	Type B pancreatic cell differentiation	IEA
GO:0003322	Process	Pancreatic A cell development	IEA
GO:0003322	Process	Pancreatic A cell development	IMP	20592023
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	TAS	10441571
GO:0003682	Function	Chromatin binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0003700	Function	DNA-binding transcription factor activity	TAS	10441571, 10747901
GO:0003723	Function	RNA binding	IEA
GO:0005515	Function	Protein binding	IPI	16098226, 21084637, 32296183
GO:0005634	Component	Nucleus	IDA	17291498
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IDA	17291498
GO:0005829	Component	Cytosol	IDA
GO:0006338	Process	Chromatin remodeling	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0006366	Process	Transcription by RNA polymerase II	IEA
GO:0007224	Process	Smoothened signaling pathway	IEA
GO:0007399	Process	Nervous system development	IEA
GO:0007399	Process	Nervous system development	IMP	24802670
GO:0007405	Process	Neuroblast proliferation	IEA
GO:0007406	Process	Negative regulation of neuroblast proliferation	IEA
GO:0007409	Process	Axonogenesis	IEA
GO:0007411	Process	Axon guidance	IEA
GO:0007417	Process	Central nervous system development	IEA
GO:0007417	Process	Central nervous system development	TAS	10747901
GO:0007420	Process	Brain development	IBA
GO:0007420	Process	Brain development	IEA
GO:0007423	Process	Sensory organ development	IBA
GO:0007435	Process	Salivary gland morphogenesis	IEA
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	TAS	10441571
GO:0008283	Process	Cell population proliferation	IEA
GO:0009611	Process	Response to wounding	IEP	17982423
GO:0009653	Process	Anatomical structure morphogenesis	IEA
GO:0009786	Process	Regulation of asymmetric cell division	IEA
GO:0009887	Process	Animal organ morphogenesis	TAS	10441571
GO:0009950	Process	Dorsal/ventral axis specification	IEA
GO:0009952	Process	Anterior/posterior pattern specification	IEA
GO:0009953	Process	Dorsal/ventral pattern formation	IEA
GO:0010467	Process	Gene expression	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0010628	Process	Positive regulation of gene expression	IMP	20592023
GO:0019901	Function	Protein kinase binding	IEA
GO:0019901	Function	Protein kinase binding	ISS
GO:0021517	Process	Ventral spinal cord development	IEA
GO:0021517	Process	Ventral spinal cord development	ISS
GO:0021543	Process	Pallium development	IEA
GO:0021778	Process	Oligodendrocyte cell fate specification	IEA
GO:0021796	Process	Cerebral cortex regionalization	IEA
GO:0021798	Process	Forebrain dorsal/ventral pattern formation	IEA
GO:0021902	Process	Commitment of neuronal cell to specific neuron type in forebrain	IEA
GO:0021905	Process	Forebrain-midbrain boundary formation	IEA
GO:0021978	Process	Telencephalon regionalization	IEA
GO:0021983	Process	Pituitary gland development	IEA
GO:0021986	Process	Habenula development	IEA
GO:0021987	Process	Cerebral cortex development	IEA
GO:0023019	Process	Signal transduction involved in regulation of gene expression	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030182	Process	Neuron differentiation	IEA
GO:0030216	Process	Keratinocyte differentiation	IEA
GO:0030334	Process	Regulation of cell migration	IEA
GO:0030855	Process	Epithelial cell differentiation	IEA
GO:0030858	Process	Positive regulation of epithelial cell differentiation	IEA
GO:0030900	Process	Forebrain development	IBA
GO:0030900	Process	Forebrain development	IEA
GO:0031490	Function	Chromatin DNA binding	IEA
GO:0031625	Function	Ubiquitin protein ligase binding	IEA
GO:0032808	Process	Lacrimal gland development	IEA
GO:0033365	Process	Protein localization to organelle	IEA
GO:0035035	Function	Histone acetyltransferase binding	IEA
GO:0035035	Function	Histone acetyltransferase binding	ISS
GO:0042462	Process	Eye photoreceptor cell development	IEA
GO:0042593	Process	Glucose homeostasis	IMP	11756345
GO:0043010	Process	Camera-type eye development	IEA
GO:0043010	Process	Camera-type eye development	IEA
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045165	Process	Cell fate commitment	IEA
GO:0045664	Process	Regulation of neuron differentiation	IEA
GO:0045665	Process	Negative regulation of neuron differentiation	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	20725088
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IMP	20592023
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	20592023
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0048505	Process	Regulation of timing of cell differentiation	IEA
GO:0048596	Process	Embryonic camera-type eye morphogenesis	IEA
GO:0048663	Process	Neuron fate commitment	NAS	17291498
GO:0048708	Process	Astrocyte differentiation	IEA
GO:0050680	Process	Negative regulation of epithelial cell proliferation	IEA
GO:0050767	Process	Regulation of neurogenesis	IEA
GO:0050768	Process	Negative regulation of neurogenesis	ISS
GO:0050877	Process	Nervous system process	IEA
GO:0060041	Process	Retina development in camera-type eye	IBA
GO:0060041	Process	Retina development in camera-type eye	IEA
GO:0061072	Process	Iris morphogenesis	IMP	7550230
GO:0061303	Process	Cornea development in camera-type eye	IMP	7550230
GO:0061351	Process	Neural precursor cell proliferation	IEA
GO:0070410	Function	Co-SMAD binding	IEA
GO:0070412	Function	R-SMAD binding	IEA
GO:0070412	Function	R-SMAD binding	IPI	17251190
GO:0071837	Function	HMG box domain binding	IEA
GO:1902895	Process	Positive regulation of miRNA transcription	IDA	24802670
GO:1990830	Process	Cellular response to leukemia inhibitory factor	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:2000178	Process	Negative regulation of neural precursor cell proliferation	IEA

MIM	HGNC	e!Ensembl
607108	8620	ENSG00000007372

Protein

UniProt ID

P26367

Protein name

Paired box protein Pax-6 (Aniridia type II protein) (Oculorhombin)

Protein function

Transcription factor with important functions in the development of the eye, nose, central nervous system and pancreas. Required for the differentiation of pancreatic islet alpha cells (By similarity). Competes with PAX4 in binding to a common e

PDB

2CUE , 6PAX

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00292	PAX	4 → 128		Domain
PF00046	Homeodomain	211 → 267	Homeodomain	Domain

Tissue specificity

TISSUE SPECIFICITY: [Isoform 1]: Expressed in lymphoblasts. {ECO:0000269|PubMed:7958875}.; TISSUE SPECIFICITY: [Isoform 5a]: Weakly expressed in lymphoblasts. {ECO:0000269|PubMed:7958875}.

Sequence

MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQVSNGCVSKILGRY
YETGSIRPRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSV
SSINRVLRNLASEKQQMGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQ
EGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFAR
ERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIP
QPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPT
SPSVNGRSYDTYTPPHMQTHMNSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPR
LQ

Sequence length

422

Interactions

View interactions

	KEGG		Reactome
	Signaling pathways regulating pluripotency of stem cells Maturity onset diabetes of the young		Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1) Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP)

Show/Hide Causal Diseases (9)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Aniridia	Aniridia 1, Congenital aniridia	rs121907918, rs1592415563, rs1131692282, rs1592435653, rs1131692313, rs1592545392, rs1592563240, rs121907928, rs1592435423, rs1554985028, rs1592654547, rs1592367623, rs1131692291, rs1131692285, rs886041222 View all (157 more)	N/A
Anterior segment dysgenesis	Irido-corneo-trabecular dysgenesis	rs121907913, rs587778874, rs121907917, rs1131692284	N/A
Coloboma	Coloboma, ocular, autosomal dominant, Coloboma of optic nerve	rs121907913, rs397514640, rs121907923, rs121907925	N/A
Foveal hypoplasia	foveal hypoplasia 1	rs121907918, rs397514640, rs121907922, rs587776572, rs759557055	N/A
Keratitis	autosomal dominant keratitis	rs587776571	N/A
Optic nerve hypoplasia	Isolated optic nerve hypoplasia	rs121907924	N/A
anterior segment dysgenesis	Anterior segment dysgenesis	rs587778874	N/A
Cataract	Developmental cataract	rs864309681, rs864309686	N/A
Optic nerve aplasia	optic nerve aplasia, bilateral	rs121907926	N/A

Show/Hide Unknown Diseases (6)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Aniridia, Cerebellar Ataxia, And Mental Retardation	aniridia-cerebellar ataxia-intellectual disability syndrome	N/A	N/A	GenCC
Anophthalmia	Anophthalmia	N/A	N/A	ClinVar
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Anophthalmia-microphthalmia syndrome	N/A	N/A	ClinVar
Foveal Hypoplasia-Presenile Cataract Syndrome	foveal hypoplasia-presenile cataract syndrome	N/A	N/A	GenCC
Insomnia	Insomnia	N/A	N/A	GWAS
Neuroticism	Neuroticism	N/A	N/A	GWAS

Show/Hide Text Mining Associations (164)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	28533502
Adenomatous Polyposis Coli	Associate	17873900
Agenesis of Corpus Callosum	Associate	19862335
Al Awadi syndrome	Associate	23734086
Albinism Ocular	Associate	28667292
Alcohol Related Disorders	Associate	39212610
Aniridia	Associate	10441571, 11826019, 12386836, 12782766, 12789139, 1334370, 15086958, 15307048, 15889018, 15918896, 16617299, 16785853, 16803629, 17417613, 17630404 View all (93 more)
Aniridia cerebellar ataxia mental deficiency	Associate	27124303
Anisometropia	Associate	37266952
Anophthalmia with pulmonary hypoplasia	Associate	31700164
Anophthalmos	Associate	16113496, 23701296, 26130484
Anterior segment mesenchymal dysgenesis	Associate	17417613, 21904390, 22025896, 27463523, 32224865, 37553561, 39870121, 7668281
Aphakia	Associate	26130484
Aphakia congenital primary	Associate	26130484
Asthma	Associate	32460303, 39643224
Astrocytoma	Associate	21059263
Atrial Fibrillation	Associate	32478689
Autistic Disorder	Associate	32499604
Axenfeld Rieger syndrome	Associate	10441571, 11284764, 27463523
Axial osteomalacia	Associate	37266952
Basal Ganglia Diseases	Associate	31412107
Brain Diseases	Associate	19862335, 19876904
Brain Infarction	Associate	19862335
Breast Neoplasms	Associate	14633992, 22765268, 25287138, 29127590, 29512753, 30362313, 37793815
Breast Neoplasms Male	Associate	22765268
Carcinoma Endometrioid	Associate	35081118
Carcinoma Hepatocellular	Associate	27110298
Carcinoma Hepatocellular	Inhibit	37724397
Carcinoma Non Small Cell Lung	Associate	24454925, 26617874, 29568088, 30594196
Carcinoma Pancreatic Ductal	Associate	31956659
Carcinoma Renal Cell	Associate	27556922, 37511191
Carcinoma Squamous Cell	Associate	18027901, 22143938
Cataract	Associate	10441571, 15889018, 17417613, 19862335, 20508808, 20664694, 20806047, 22025896, 23213273, 23942204, 24737507, 25678763, 28450710, 29914532, 29930474 View all (15 more)
Cataract Autosomal Dominant	Associate	34345029
Cataract microcornea syndrome	Associate	28157223
Cataract Nuclear Progressive	Associate	22393272, 23734086
Central Nervous System Vascular Malformations	Associate	16098226, 20054790
Chemke Oliver Mallek syndrome	Associate	35034608
Cleft Palate	Associate	19142206
Cognition Disorders	Associate	17417613
Coloboma	Associate	11826019, 21655361, 24349436, 26130484, 29930474, 33024313
Colorectal Neoplasms	Associate	30191603, 33099925, 33462242
Congenital Abnormalities	Associate	17417613
congenital fibrosis of the extraocular muscles	Associate	23799907
Corneal Diseases	Associate	33373496
Corneal Dystrophies Hereditary	Associate	10441571
Corneal Dystrophy Band Shaped	Associate	25678763, 29618921, 34016071
Corneal Opacity	Associate	37510387, 37856539
COVID 19	Associate	34653711
Creatine deficiency X linked	Inhibit	37830910
Delayed Cranial Ossification due to CBFB Haploinsufficiency	Associate	12782766, 37269011
Developmental Disabilities	Associate	19898691, 23734086, 34566401
Diabetes Mellitus	Associate	19876904, 30151985, 31361967, 36202929
Diabetes Mellitus Type 1	Associate	30151985
Diabetes Mellitus Type 2	Associate	36202929
Down Syndrome	Associate	37958513
Dystonic Disorders	Associate	25678763
Ectropion	Associate	28300742
Elejalde Disease	Associate	17417613
Ependymoma	Associate	34183436
Epileptic Syndromes	Associate	16803629
Eye Abnormalities	Associate	10441571, 15912477, 15918896, 16098226, 16803629, 18483559, 19898691, 20806047, 21321669, 23701296, 24787241, 29930474, 31116317, 32080308, 35034608, 36202929, 36675087, 40133207 View all (3 more)
Eye Diseases	Associate	15918896, 16803629, 23701296, 24281366, 33024313, 37553561, 39212610
Eye Diseases Hereditary	Associate	32708836, 36729443
Eye Infections	Associate	20405024, 24349436
Fetal Alcohol Spectrum Disorders	Associate	17417613
Fibrosis Of Extraocular Muscles Congenital 3A with or without Extraocular Involvement	Associate	31700164
Foveal Hypoplasia Isolated	Associate	33024313, 34415986, 37510387
Genetic Diseases Inborn	Associate	34415986, 34610801
Genital Neoplasms Female	Associate	39571690
Glaucoma	Associate	19862335, 25678763, 27484908, 34101622, 35034608
Glaucoma 3 Primary Congenital A	Associate	26130484, 27463523
Glioblastoma	Inhibit	19790232, 29716531
Glioblastoma	Associate	27863244, 28035389
Glioma	Associate	16212813, 18273794, 20500513, 27863244
Glioma Subependymal	Associate	20500513, 34183436
Gliosis	Associate	33370704
Glucose Intolerance	Associate	33745259
Goniodysgenesis Mental Retardation Short Stature Syndrome	Associate	37553561
Growth Disorders	Associate	29930474, 9132491
Hearing Disorders	Associate	19862335
Heterochromia iridis	Associate	22025896
Hirschsprung Disease	Associate	26879676
Hyperopia	Associate	39212610
Hypersensitivity Delayed	Associate	19862335
Hypogonadism	Associate	30098700
Hypoxia	Associate	25955133
Inflammation	Associate	35491409
Intellectual Disability	Associate	18753648, 22103961, 29343077, 31361967, 36011342
Iris Diseases	Associate	16803629, 18483559, 22025896, 22815628, 23942204, 25678763, 26130484, 32214788, 37553561, 39212610, 7666404
Keratitis	Associate	7668281
Leber Congenital Amaurosis	Associate	36140798
Lens Subluxation	Associate	30221735
Leprosy Tuberculoid	Associate	16098226
Limbal Stem Cell Deficiency	Associate	32422284, 33373496
Lung Neoplasms	Associate	24454925
Lung Neoplasms	Stimulate	30594196
Lymphatic Metastasis	Associate	36454866
Macular Degeneration	Associate	32209064
Medulloblastoma	Associate	21059263, 7777574
Mental Disorders	Associate	21494683
Metabolic Syndrome	Associate	21494683
Microphthalmia Isolated With Corectopia	Associate	37553561
Microphthalmos	Associate	16113496, 17417613, 23701296, 26130484, 31700164, 32125788, 33024313, 33524672, 35716026, 40280197
Myopia	Associate	15307048, 17653045, 19907666, 21589860, 23213273, 33745259, 35034608, 36277877, 38243264
Neoplasm Metastasis	Associate	26617874
Neoplasms	Inhibit	18273794, 21710491, 28924151, 29568088
Neoplasms	Associate	20233874, 20500513, 24454925, 24493828, 24939714, 26617874, 26738864, 29716531, 34183436, 37724397, 37793815, 39571690
Neoplasms	Stimulate	24493828, 30594196
Neoplastic Syndromes Hereditary	Associate	37958513
Nerve Degeneration	Associate	21633710
Neuroendocrine Tumors	Associate	35739266
Norrie disease	Associate	20405024, 28157223
Nystagmus 2 congenital autosomal dominant	Associate	23942204
Nystagmus Congenital	Associate	32080308
Nystagmus Pathologic	Associate	17417613, 22025896, 22171157, 23942204, 25678763, 28157223, 29930474, 30221735, 33024313, 34016071, 34065151, 34101622, 34610801, 39212610
O'Donnell Pappas syndrome	Associate	10441571, 17417613, 19862335, 23942204, 25678763, 28300742, 31174676, 32080308, 32396632, 34016071, 34101622, 34415986, 34942114, 35034608, 35157951 View all (5 more)
Obesity Morbid	Associate	31361967
Opitz Kaveggia syndrome	Associate	22025896
Optic Atrophy	Associate	19862335
Optic Nerve Diseases	Associate	16604056, 37553561
Optic Nerve Hypoplasia	Associate	16604056, 23942204
Oropharyngeal Neoplasms	Associate	34974810
Oroticaciduria 1	Associate	16604056
Osteosarcoma	Associate	29345189
Pancreatitis	Associate	21494683, 33198821, 39571690
Peritoneal Neoplasms	Associate	18027901
Peritoneal Neoplasms	Inhibit	25228544
Peters anomaly	Associate	10441571, 17417613, 20405024, 21904390, 25182519, 35170016, 7668281
Pinealoma	Associate	19862335
Precancerous Conditions	Associate	30191603
Prostatic Neoplasms	Inhibit	19790232
Prostatic Neoplasms	Associate	20053773
Ptosis Hereditary Congenital 2	Associate	23734086, 33745259
Retinal Detachment	Associate	37542296
Retinal Dystrophies	Associate	36140798
Retinitis Pigmentosa	Associate	36140798
Retinoblastoma	Associate	23660406, 24939714, 33432525, 34989314
Rhabdomyosarcoma Alveolar	Associate	10666368
Rhegmatogenous Retinal Detachment Autosomal Dominant	Associate	37542296
Rhinitis	Associate	32460303
Sarcoma Alveolar Soft Part	Stimulate	24493828
Schizophrenia	Associate	36232882
Sjogren's Syndrome	Inhibit	25228544
Sleep Deprivation	Associate	29343077
Sleep Initiation and Maintenance Disorders	Associate	21494683
Sleep Wake Disorders	Associate	26439359, 29343077
Squamous Cell Carcinoma of Head and Neck	Associate	32924983, 34974810
Stomach Neoplasms	Associate	16367923
Stomach Neoplasms	Stimulate	26738864
Supratentorial Neoplasms	Inhibit	34183436
Tauopathies	Associate	32661233
Teratoma	Associate	32587369
Testicular Neoplasms	Stimulate	39571690
Thrombophilia due to Activated Protein C Resistance	Associate	32661233
Thyroid Cancer Papillary	Associate	34866540
Tuberculosis Multidrug Resistant	Associate	29512753
Urogenital Abnormalities	Associate	18753648, 31361967, 36011342
Urogenital Abnormalities	Inhibit	29061165
Virus Diseases	Associate	27110298
Vision Disorders	Associate	21364908, 29618921
WAGR Syndrome	Associate	1334370, 18753648, 31361967, 32708836, 36011342, 38002984
Wilms Tumor	Associate	12386836, 1334370, 18753648, 2154702
X Linked Infantile Nystagmus	Associate	29145603, 34415986

PAX6 (paired box 6)