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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	54806
Gene name Gene Name - the full gene name approved by the HGNC.	Abelson helper integration site 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	AHI1
Synonyms (NCBI Gene) Gene synonyms aliases	AHI-1, JBTS3, ORF1, dJ71N10.1
Chromosome Chromosome number	6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	6q23.3
Summary Summary of gene provided in NCBI Entrez Gene.	This gene is apparently required for both cerebellar and cortical development in humans. This gene mutations cause specific forms of Joubert syndrome-related disorders. Joubert syndrome (JS) is a recessively inherited developmental brain disorder with sev

Show/Hide all(75)

SNP ID	Visualize variation	Clinical significance	Consequence
rs41288013	T>C	Conflicting-interpretations-of-pathogenicity, benign-likely-benign	Non coding transcript variant, coding sequence variant, missense variant
rs41288017	C>T	Conflicting-interpretations-of-pathogenicity, benign-likely-benign	Non coding transcript variant, coding sequence variant, synonymous variant
rs117447608	G>A	Benign-likely-benign, likely-pathogenic, benign	Non coding transcript variant, genic downstream transcript variant, missense variant, 3 prime UTR variant, coding sequence variant
rs121434348	G>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs121434349	G>A,T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant, synonymous variant
rs121434350	A>T	Likely-pathogenic, pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs121434351	C>T	Pathogenic-likely-pathogenic, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs139944375	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs148000791	T>C	Likely-pathogenic, likely-benign, benign, benign-likely-benign	Genic downstream transcript variant, coding sequence variant, intron variant, missense variant, non coding transcript variant
rs183936286	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, non coding transcript variant
rs187245292	C>A,T	Pathogenic, likely-pathogenic	Intron variant, splice donor variant
rs199879855	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs201391050	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs267606641	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs368788993	A>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs371637724	G>A,C,T	Pathogenic	Stop gained, coding sequence variant, synonymous variant, missense variant, non coding transcript variant
rs372659908	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs374009466	C>G,T	Likely-benign, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs387906270	->A	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs387907003	C>T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs397514726	C>A,T	Uncertain-significance, pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs541041911	T>A,C	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs587783013	C>T	Pathogenic-likely-pathogenic, pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs587783014	ACTATAC>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs745507530	C>A	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs747322175	->T	Likely-pathogenic, uncertain-significance	Non coding transcript variant, coding sequence variant, frameshift variant
rs751823180	C>A,T	Pathogenic	Splice donor variant
rs753085250	T>C	Pathogenic	Splice acceptor variant
rs753874898	TTT>-,TT,TTTT,TTTTT	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, inframe deletion
rs755246809	T>-	Likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs755407014	T>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs764412921	A>G,T	Pathogenic	Stop gained, synonymous variant, coding sequence variant, non coding transcript variant
rs772289223	->T	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs772989270	G>A	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs773278338	->CT	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs776093293	C>A	Pathogenic	Splice donor variant
rs777215595	G>C	Pathogenic, likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs777668842	G>A,C	Pathogenic	Non coding transcript variant, missense variant, stop gained, coding sequence variant
rs780163791	G>A,C	Pathogenic, uncertain-significance	Non coding transcript variant, missense variant, stop gained, intron variant, genic downstream transcript variant, coding sequence variant
rs780910490	ACGCATTAGATCAC>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs794729195	G>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs797045223	C>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs797045224	T>C	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs863225131	A>C	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs863225132	->CC	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs863225133	T>C	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs863225134	T>C,G	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs863225135	T>C	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs863225136	->CA	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs863225137	C>T	Pathogenic	Splice donor variant
rs863225138	G>A,C	Pathogenic	Stop gained, coding sequence variant, missense variant, non coding transcript variant
rs863225139	C>A,T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs863225140	TCTCTCATCT>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs863225141	T>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs863225142	T>A,C	Pathogenic	Stop gained, coding sequence variant, missense variant, non coding transcript variant
rs863225143	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs863225144	A>G	Uncertain-significance, pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs863225145	C>T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs863225146	C>A	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs863225147	T>A	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs863225148	->GTAA	Pathogenic	Intron variant
rs886039465	T>A,C	Pathogenic	Splice acceptor variant
rs905262279	AA>-	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant, inframe indel
rs1057524842	G>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1057524843	C>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1276908141	C>T	Likely-pathogenic	Non coding transcript variant, synonymous variant, coding sequence variant
rs1554208431	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554209758	AT>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554214237	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554338016	G>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant, intron variant
rs1554347012	C>A	Pathogenic	Intron variant
rs1554350503	->T	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1562219266	G>C	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1583179845	A>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1583276758	C>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant

Show/Hide all(258)

miRTarBase ID	miRNA	Experiments	Reference
MIRT019485	hsa-miR-148b-3p	Microarray	17612493
MIRT024212	hsa-miR-218-5p	Sequencing	20371350
MIRT550280	hsa-miR-4517	PAR-CLIP	21572407
MIRT550279	hsa-miR-4678	PAR-CLIP	21572407
MIRT550278	hsa-miR-455-5p	PAR-CLIP	21572407
MIRT550277	hsa-miR-1283	PAR-CLIP	21572407
MIRT550276	hsa-miR-4804-3p	PAR-CLIP	21572407
MIRT550275	hsa-miR-4720-3p	PAR-CLIP	21572407
MIRT550274	hsa-miR-3618	PAR-CLIP	21572407
MIRT550273	hsa-miR-636	PAR-CLIP	21572407
MIRT550272	hsa-miR-331-5p	PAR-CLIP	21572407
MIRT024212	hsa-miR-218-5p	PAR-CLIP	21572407
MIRT515179	hsa-miR-18a-5p	PAR-CLIP	23446348
MIRT515178	hsa-miR-18b-5p	PAR-CLIP	23446348
MIRT515176	hsa-miR-4735-3p	PAR-CLIP	23446348
MIRT515177	hsa-miR-4438	PAR-CLIP	23446348
MIRT515175	hsa-miR-3159	PAR-CLIP	23446348
MIRT515174	hsa-miR-6504-3p	PAR-CLIP	23446348
MIRT515173	hsa-miR-4761-5p	PAR-CLIP	23446348
MIRT515172	hsa-miR-6814-5p	PAR-CLIP	23446348
MIRT515171	hsa-miR-150-5p	PAR-CLIP	23446348
MIRT515170	hsa-miR-6778-3p	PAR-CLIP	23446348
MIRT515169	hsa-miR-5095	PAR-CLIP	23446348
MIRT515168	hsa-miR-7151-3p	PAR-CLIP	23446348
MIRT515167	hsa-miR-619-5p	PAR-CLIP	23446348
MIRT550280	hsa-miR-4517	PAR-CLIP	21572407
MIRT550279	hsa-miR-4678	PAR-CLIP	21572407
MIRT550278	hsa-miR-455-5p	PAR-CLIP	21572407
MIRT550277	hsa-miR-1283	PAR-CLIP	21572407
MIRT550276	hsa-miR-4804-3p	PAR-CLIP	21572407
MIRT550275	hsa-miR-4720-3p	PAR-CLIP	21572407
MIRT550274	hsa-miR-3618	PAR-CLIP	21572407
MIRT550273	hsa-miR-636	PAR-CLIP	21572407
MIRT550272	hsa-miR-331-5p	PAR-CLIP	21572407
MIRT024212	hsa-miR-218-5p	PAR-CLIP	21572407
MIRT515179	hsa-miR-18a-5p	PAR-CLIP	23446348
MIRT515178	hsa-miR-18b-5p	PAR-CLIP	23446348
MIRT515176	hsa-miR-4735-3p	PAR-CLIP	23446348
MIRT515177	hsa-miR-4438	PAR-CLIP	23446348
MIRT515175	hsa-miR-3159	PAR-CLIP	23446348
MIRT515174	hsa-miR-6504-3p	PAR-CLIP	23446348
MIRT515173	hsa-miR-4761-5p	PAR-CLIP	23446348
MIRT515172	hsa-miR-6814-5p	PAR-CLIP	23446348
MIRT515171	hsa-miR-150-5p	PAR-CLIP	23446348
MIRT515170	hsa-miR-6778-3p	PAR-CLIP	23446348
MIRT515169	hsa-miR-5095	PAR-CLIP	23446348
MIRT515168	hsa-miR-7151-3p	PAR-CLIP	23446348
MIRT515167	hsa-miR-619-5p	PAR-CLIP	23446348
MIRT773585	hsa-miR-299-5p	CLIP-seq
MIRT773586	hsa-miR-122	CLIP-seq
MIRT773587	hsa-miR-1273f	CLIP-seq
MIRT773588	hsa-miR-130a	CLIP-seq
MIRT773589	hsa-miR-130b	CLIP-seq
MIRT773590	hsa-miR-1343	CLIP-seq
MIRT773591	hsa-miR-138	CLIP-seq
MIRT773592	hsa-miR-197	CLIP-seq
MIRT773593	hsa-miR-218	CLIP-seq
MIRT773594	hsa-miR-24	CLIP-seq
MIRT773595	hsa-miR-301a	CLIP-seq
MIRT773596	hsa-miR-301b	CLIP-seq
MIRT773597	hsa-miR-3135b	CLIP-seq
MIRT773598	hsa-miR-3155	CLIP-seq
MIRT773599	hsa-miR-3155b	CLIP-seq
MIRT773600	hsa-miR-3170	CLIP-seq
MIRT773601	hsa-miR-3652	CLIP-seq
MIRT773602	hsa-miR-3666	CLIP-seq
MIRT773603	hsa-miR-411	CLIP-seq
MIRT773604	hsa-miR-4284	CLIP-seq
MIRT773605	hsa-miR-4295	CLIP-seq
MIRT773606	hsa-miR-4430	CLIP-seq
MIRT773607	hsa-miR-454	CLIP-seq
MIRT773608	hsa-miR-4659a-3p	CLIP-seq
MIRT773609	hsa-miR-4659b-3p	CLIP-seq
MIRT773610	hsa-miR-4694-5p	CLIP-seq
MIRT773611	hsa-miR-4716-5p	CLIP-seq
MIRT773612	hsa-miR-4772-3p	CLIP-seq
MIRT773613	hsa-miR-4781-3p	CLIP-seq
MIRT773614	hsa-miR-484	CLIP-seq
MIRT773615	hsa-miR-5096	CLIP-seq
MIRT1545203	hsa-miR-4735-5p	CLIP-seq
MIRT1928329	hsa-miR-1226	CLIP-seq
MIRT1928330	hsa-miR-4733-3p	CLIP-seq
MIRT773586	hsa-miR-122	CLIP-seq
MIRT773588	hsa-miR-130a	CLIP-seq
MIRT773589	hsa-miR-130b	CLIP-seq
MIRT773594	hsa-miR-24	CLIP-seq
MIRT773595	hsa-miR-301a	CLIP-seq
MIRT773596	hsa-miR-301b	CLIP-seq
MIRT773597	hsa-miR-3135b	CLIP-seq
MIRT2169107	hsa-miR-361-3p	CLIP-seq
MIRT773601	hsa-miR-3652	CLIP-seq
MIRT773602	hsa-miR-3666	CLIP-seq
MIRT773604	hsa-miR-4284	CLIP-seq
MIRT773605	hsa-miR-4295	CLIP-seq
MIRT773606	hsa-miR-4430	CLIP-seq
MIRT773607	hsa-miR-454	CLIP-seq
MIRT2169108	hsa-miR-4789-5p	CLIP-seq
MIRT2169109	hsa-miR-499a-5p	CLIP-seq
MIRT2169110	hsa-miR-642b	CLIP-seq
MIRT773586	hsa-miR-122	CLIP-seq
MIRT773588	hsa-miR-130a	CLIP-seq
MIRT773589	hsa-miR-130b	CLIP-seq
MIRT773594	hsa-miR-24	CLIP-seq
MIRT773595	hsa-miR-301a	CLIP-seq
MIRT773596	hsa-miR-301b	CLIP-seq
MIRT773597	hsa-miR-3135b	CLIP-seq
MIRT2169107	hsa-miR-361-3p	CLIP-seq
MIRT773601	hsa-miR-3652	CLIP-seq
MIRT773602	hsa-miR-3666	CLIP-seq
MIRT773604	hsa-miR-4284	CLIP-seq
MIRT773605	hsa-miR-4295	CLIP-seq
MIRT773606	hsa-miR-4430	CLIP-seq
MIRT773607	hsa-miR-454	CLIP-seq
MIRT773586	hsa-miR-122	CLIP-seq
MIRT773588	hsa-miR-130a	CLIP-seq
MIRT773589	hsa-miR-130b	CLIP-seq
MIRT773595	hsa-miR-301a	CLIP-seq
MIRT773596	hsa-miR-301b	CLIP-seq
MIRT773597	hsa-miR-3135b	CLIP-seq
MIRT2443375	hsa-miR-3194-3p	CLIP-seq
MIRT2169107	hsa-miR-361-3p	CLIP-seq
MIRT773601	hsa-miR-3652	CLIP-seq
MIRT773602	hsa-miR-3666	CLIP-seq
MIRT773605	hsa-miR-4295	CLIP-seq
MIRT2443376	hsa-miR-431	CLIP-seq
MIRT773606	hsa-miR-4430	CLIP-seq
MIRT773607	hsa-miR-454	CLIP-seq
MIRT2443377	hsa-miR-924	CLIP-seq
MIRT773586	hsa-miR-122	CLIP-seq
MIRT1928329	hsa-miR-1226	CLIP-seq
MIRT2471682	hsa-miR-1227	CLIP-seq
MIRT2471683	hsa-miR-1261	CLIP-seq
MIRT2471684	hsa-miR-1270	CLIP-seq
MIRT2471685	hsa-miR-129-5p	CLIP-seq
MIRT773588	hsa-miR-130a	CLIP-seq
MIRT773589	hsa-miR-130b	CLIP-seq
MIRT773590	hsa-miR-1343	CLIP-seq
MIRT2471686	hsa-miR-148a	CLIP-seq
MIRT2471687	hsa-miR-148b	CLIP-seq
MIRT2471688	hsa-miR-152	CLIP-seq
MIRT773592	hsa-miR-197	CLIP-seq
MIRT2471689	hsa-miR-2052	CLIP-seq
MIRT2471690	hsa-miR-214	CLIP-seq
MIRT773594	hsa-miR-24	CLIP-seq
MIRT773595	hsa-miR-301a	CLIP-seq
MIRT773596	hsa-miR-301b	CLIP-seq
MIRT773597	hsa-miR-3135b	CLIP-seq
MIRT773600	hsa-miR-3170	CLIP-seq
MIRT2443375	hsa-miR-3194-3p	CLIP-seq
MIRT2471691	hsa-miR-320a	CLIP-seq
MIRT2471692	hsa-miR-320b	CLIP-seq
MIRT2471693	hsa-miR-320c	CLIP-seq
MIRT2471694	hsa-miR-320d	CLIP-seq
MIRT2471695	hsa-miR-3613-3p	CLIP-seq
MIRT2169107	hsa-miR-361-3p	CLIP-seq
MIRT2471696	hsa-miR-361-5p	CLIP-seq
MIRT2471697	hsa-miR-3619-5p	CLIP-seq
MIRT773601	hsa-miR-3652	CLIP-seq
MIRT773602	hsa-miR-3666	CLIP-seq
MIRT2471698	hsa-miR-3672	CLIP-seq
MIRT2471699	hsa-miR-412	CLIP-seq
MIRT2471700	hsa-miR-4252	CLIP-seq
MIRT2471701	hsa-miR-4263	CLIP-seq
MIRT773604	hsa-miR-4284	CLIP-seq
MIRT2471702	hsa-miR-4291	CLIP-seq
MIRT773605	hsa-miR-4295	CLIP-seq
MIRT2443376	hsa-miR-431	CLIP-seq
MIRT2471703	hsa-miR-4429	CLIP-seq
MIRT773606	hsa-miR-4430	CLIP-seq
MIRT2471704	hsa-miR-4509	CLIP-seq
MIRT2471705	hsa-miR-452	CLIP-seq
MIRT2471706	hsa-miR-4531	CLIP-seq
MIRT773607	hsa-miR-454	CLIP-seq
MIRT2471707	hsa-miR-4676-3p	CLIP-seq
MIRT2471708	hsa-miR-4683	CLIP-seq
MIRT2471709	hsa-miR-4687-3p	CLIP-seq
MIRT1928330	hsa-miR-4733-3p	CLIP-seq
MIRT1545203	hsa-miR-4735-5p	CLIP-seq
MIRT2471710	hsa-miR-4744	CLIP-seq
MIRT773612	hsa-miR-4772-3p	CLIP-seq
MIRT2471711	hsa-miR-4773	CLIP-seq
MIRT2471712	hsa-miR-4775	CLIP-seq
MIRT2471713	hsa-miR-4787-3p	CLIP-seq
MIRT2169108	hsa-miR-4789-5p	CLIP-seq
MIRT2471714	hsa-miR-4799-5p	CLIP-seq
MIRT2169109	hsa-miR-499a-5p	CLIP-seq
MIRT773615	hsa-miR-5096	CLIP-seq
MIRT2471715	hsa-miR-532-5p	CLIP-seq
MIRT2471716	hsa-miR-561	CLIP-seq
MIRT2471717	hsa-miR-570	CLIP-seq
MIRT2471718	hsa-miR-576-5p	CLIP-seq
MIRT2471719	hsa-miR-578	CLIP-seq
MIRT2471720	hsa-miR-590-3p	CLIP-seq
MIRT2471721	hsa-miR-607	CLIP-seq
MIRT2471722	hsa-miR-620	CLIP-seq
MIRT2471723	hsa-miR-635	CLIP-seq
MIRT2169110	hsa-miR-642b	CLIP-seq
MIRT2471724	hsa-miR-656	CLIP-seq
MIRT2471725	hsa-miR-761	CLIP-seq
MIRT2471726	hsa-miR-922	CLIP-seq
MIRT2443377	hsa-miR-924	CLIP-seq
MIRT773586	hsa-miR-122	CLIP-seq
MIRT1928329	hsa-miR-1226	CLIP-seq
MIRT2471683	hsa-miR-1261	CLIP-seq
MIRT773588	hsa-miR-130a	CLIP-seq
MIRT773589	hsa-miR-130b	CLIP-seq
MIRT2471686	hsa-miR-148a	CLIP-seq
MIRT2471687	hsa-miR-148b	CLIP-seq
MIRT2471688	hsa-miR-152	CLIP-seq
MIRT773592	hsa-miR-197	CLIP-seq
MIRT2471689	hsa-miR-2052	CLIP-seq
MIRT773594	hsa-miR-24	CLIP-seq
MIRT773595	hsa-miR-301a	CLIP-seq
MIRT773596	hsa-miR-301b	CLIP-seq
MIRT773597	hsa-miR-3135b	CLIP-seq
MIRT773600	hsa-miR-3170	CLIP-seq
MIRT2443375	hsa-miR-3194-3p	CLIP-seq
MIRT2471691	hsa-miR-320a	CLIP-seq
MIRT2471692	hsa-miR-320b	CLIP-seq
MIRT2471693	hsa-miR-320c	CLIP-seq
MIRT2471694	hsa-miR-320d	CLIP-seq
MIRT2169107	hsa-miR-361-3p	CLIP-seq
MIRT2471696	hsa-miR-361-5p	CLIP-seq
MIRT773601	hsa-miR-3652	CLIP-seq
MIRT773602	hsa-miR-3666	CLIP-seq
MIRT2471698	hsa-miR-3672	CLIP-seq
MIRT2471699	hsa-miR-412	CLIP-seq
MIRT2471701	hsa-miR-4263	CLIP-seq
MIRT773604	hsa-miR-4284	CLIP-seq
MIRT773605	hsa-miR-4295	CLIP-seq
MIRT2443376	hsa-miR-431	CLIP-seq
MIRT2471703	hsa-miR-4429	CLIP-seq
MIRT773606	hsa-miR-4430	CLIP-seq
MIRT2471704	hsa-miR-4509	CLIP-seq
MIRT2471705	hsa-miR-452	CLIP-seq
MIRT773607	hsa-miR-454	CLIP-seq
MIRT2471707	hsa-miR-4676-3p	CLIP-seq
MIRT2471709	hsa-miR-4687-3p	CLIP-seq
MIRT1928330	hsa-miR-4733-3p	CLIP-seq
MIRT1545203	hsa-miR-4735-5p	CLIP-seq
MIRT2471710	hsa-miR-4744	CLIP-seq
MIRT773612	hsa-miR-4772-3p	CLIP-seq
MIRT2471711	hsa-miR-4773	CLIP-seq
MIRT2471712	hsa-miR-4775	CLIP-seq
MIRT2471713	hsa-miR-4787-3p	CLIP-seq
MIRT2169108	hsa-miR-4789-5p	CLIP-seq
MIRT2471714	hsa-miR-4799-5p	CLIP-seq
MIRT2169109	hsa-miR-499a-5p	CLIP-seq
MIRT773615	hsa-miR-5096	CLIP-seq
MIRT2471717	hsa-miR-570	CLIP-seq
MIRT2471718	hsa-miR-576-5p	CLIP-seq
MIRT2471719	hsa-miR-578	CLIP-seq
MIRT2471720	hsa-miR-590-3p	CLIP-seq
MIRT2471723	hsa-miR-635	CLIP-seq
MIRT2169110	hsa-miR-642b	CLIP-seq
MIRT2471724	hsa-miR-656	CLIP-seq
MIRT2443377	hsa-miR-924	CLIP-seq
MIRT1545203	hsa-miR-4735-5p	CLIP-seq

Show/Hide all(44)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001738	Process	Morphogenesis of a polarized epithelium	ISS
GO:0001947	Process	Heart looping	ISS
GO:0002092	Process	Positive regulation of receptor internalization	ISS
GO:0005515	Function	Protein binding	IPI	18633336, 22623184, 23532844, 25825872
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA	18633336
GO:0005814	Component	Centriole	IEA
GO:0005814	Component	Centriole	ISS
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005911	Component	Cell-cell junction	IDA	18633336
GO:0005912	Component	Adherens junction	IDA	18633336
GO:0005912	Component	Adherens junction	IEA
GO:0005929	Component	Cilium	IC	21959375
GO:0005929	Component	Cilium	IDA	18633336
GO:0005929	Component	Cilium	IEA
GO:0005929	Component	Cilium	ISS
GO:0007169	Process	Cell surface receptor protein tyrosine kinase signaling pathway	ISS
GO:0007417	Process	Central nervous system development	ISS
GO:0008104	Process	Intracellular protein localization	ISS
GO:0010842	Process	Retina layer formation	ISS
GO:0016192	Process	Vesicle-mediated transport	ISS
GO:0030030	Process	Cell projection organization	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030862	Process	Positive regulation of polarized epithelial cell differentiation	ISS
GO:0030902	Process	Hindbrain development	ISS
GO:0035844	Process	Cloaca development	ISS
GO:0035845	Process	Photoreceptor cell outer segment organization	ISS
GO:0036038	Component	MKS complex	ISS
GO:0036064	Component	Ciliary basal body	IBA
GO:0036064	Component	Ciliary basal body	IDA	18633336
GO:0039008	Process	Pronephric nephron tubule morphogenesis	ISS
GO:0042802	Function	Identical protein binding	IPI	23532844
GO:0042995	Component	Cell projection	IEA
GO:0043066	Process	Negative regulation of apoptotic process	ISS
GO:0044458	Process	Motile cilium assembly	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0050795	Process	Regulation of behavior	ISS
GO:0060271	Process	Cilium assembly	IMP	21959375
GO:0060271	Process	Cilium assembly	ISS
GO:0065001	Process	Specification of axis polarity	ISS
GO:0070161	Component	Anchoring junction	IEA
GO:0071599	Process	Otic vesicle development	ISS
GO:0097730	Component	Non-motile cilium	ISS

MIM	HGNC	e!Ensembl
608894	21575	ENSG00000135541

Protein

UniProt ID

Q8N157

Protein name

Jouberin (Abelson helper integration site 1 protein homolog) (AHI-1)

Protein function

Involved in vesicle trafficking and required for ciliogenesis, formation of primary non-motile cilium, and recruitment of RAB8A to the basal body of primary cilium. Component of the tectonic-like complex, a complex localized at the transition zo

PDB

4ESR

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00400	WD40	644 → 682	WD domain, G-beta repeat	Repeat
PF00400	WD40	735 → 772	WD domain, G-beta repeat	Repeat
PF00400	WD40	834 → 871	WD domain, G-beta repeat	Repeat
PF00018	SH3_1	1057 → 1103	SH3 domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in the most primitive normal hematopoietic cells. Expressed in brain, particularly in neurons that give rise to the crossing axons of the corticospinal tract and superior cerebellar peduncles. Expressed in kidney (rena

Sequence

MPTAESEAKVKTKVRFEELLKTHSDLMREKKKLKKKLVRSEENISPDTIRSNLHYMKETT
SDDPDTIRSNLPHIKETTSDDVSAANTNNLKKSTRVTKNKLRNTQLATENPNGDASVEED
KQGKPNKKVIKTVPQLTTQDLKPETPENKVDSTHQKTHTKPQPGVDHQKSEKANEGREET
DLEEDEELMQAYQCHVTEEMAKEIKRKIRKKLKEQLTYFPSDTLFHDDKLSSEKRKKKKE
VPVFSKAETSTLTISGDTVEGEQKKESSVRSVSSDSHQDDEISSMEQSTEDSMQDDTKPK
PKKTKKKTKAVADNNEDVDGDGVHEITSRDSPVYPKCLLDDDLVLGVYIHRTDRLKSDFM
ISHPMVKIHVVDEHTGQYVKKDDSGRPVSSYYEKENVDYILPIMTQPYDFKQLKSRLPEW
EEQIVFNENFPYLLRGSDESPKVILFFEILDFLSVDEIKNNSEVQNQECGFRKIAWAFLK
LLGANGNANINSKLRLQLYYPPTKPRSPLSVVEAFEWWSKCPRNHYPSTLYVTVRGLKVP
DCIKPSYRSMMALQEEKGKPVHCERHHESSSVDTEPGLEESKEVIKWKRLPGQACRIPNK
HLFSLNAGERGCFCLDFSHNGRILAAACASRDGYPIILYEIPSGRFMRELCGHLNIIYDL
SWSKDDHYILTSSSDGTARIWKNEINNTNTFRVLPHPSFVYTAKFHPAVRELVVTGCYDS
MIRIWKVEMREDSAILVRQFDVHKSFINSLCFDTEGHHMYSGDCTGVIVVWNTYVKINDL
EHSVHHWTINKEIKETEFKGIPISYLEIHPNGKRLLIHTKDSTLRIMDLRILVARKFVGA
ANYREKIHSTLTPCGTFLFAGSEDGIVYVWNPETGEQVAMYSDLPFKSPIRDISYHPFEN
MVAFCAFGQNEPILLYIYDFHVAQQEAEMFKRYNGTFPLPGIHQSQDALCTCPKLPHQGS
FQIDEFVHTESSSTKMQLVKQRLETVTEVIRSCAAKVNKNLSFTSPPAVSSQQSKLKQSN
MLTAQEILHQFGFTQTGIISIERKPCNHQVDTAPTVVALYDYTANRSDELTIHRGDIIRV
FFKDNEDWWYGSIGKGQEGYFPANHVASETLYQELPPEIKERSPPLSPEEKTKIEKSPAP
QKQSINKNKSQDFRLGSESMTHSEMRKEQSHEDQGHIMDTRMRKNKQAGRKVTLIE

Sequence length

1196

Interactions

View interactions

	Reactome
			Anchoring of the basal body to the plasma membrane

Show/Hide Causal Diseases (8)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Cerebellar vermis agenesis	familial aplasia of the vermis	rs1554214237, rs777668842, rs748438350, rs541041911, rs863225135, rs756276537, rs747322175, rs267606641, rs1787150198, rs1336317768, rs1355690902, rs587783013, rs753874898, rs863225136, rs1276908141 View all (31 more)	N/A
Joubert Syndrome	joubert syndrome 3, Joubert syndrome and related disorders, joubert syndrome 1	rs587783013, rs1163874095, rs886039465, rs541041911, rs863225135, rs777215595, rs863225133, rs755407014, rs1583276758, rs777668842, rs753874898, rs863225134, rs764412921, rs863225131, rs756276537 View all (38 more)	N/A
Joubert Syndrome With Renal Defect	joubert syndrome with ocular defect	rs201391050	N/A
retinal dystrophy	Retinal dystrophy	rs1336317768, rs1355690902, rs777668842, rs753874898, rs201391050, rs751823180, rs1784887448, rs781198326, rs780910490, rs777215595	N/A
Retinitis Pigmentosa	retinitis pigmentosa	rs587783013, rs773278338, rs1554338016, rs797045224, rs372659908, rs777215595	N/A
Rod-cone dystrophy	rod-cone dystrophy	rs267606641, rs777668842	N/A
Leber Congenital Amaurosis	leber congenital amaurosis	rs1554347012, rs587783013	N/A
Nephronophthisis	nephronophthisis	rs777668842	N/A

Show/Hide Unknown Diseases (11)

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.
Asthma	Atopic asthma, Asthma	N/A	N/A	GWAS
Dermatitis	Atopic dermatitis	N/A	N/A	GWAS
Eczema	Eczema	N/A	N/A	GWAS
Glioblastoma	Glioblastoma	N/A	N/A	GWAS
Hypothyroidism	Hypothyroidism	N/A	N/A	GWAS
Insomnia	Insomnia	N/A	N/A	GWAS
Mental retardation	intellectual disability	N/A	N/A	ClinVar
Metabolic Syndrome	Serum omega-3 polyunsaturated fatty acid concentration in metabolic syndrome, Serum docosahexaenoic fatty acid concentration in metabolic syndrome	N/A	N/A	GWAS
Multiple Sclerosis	Multiple sclerosis	N/A	N/A	GWAS
Optic Atrophy	optic atrophy	N/A	N/A	ClinVar
Systemic lupus erythematosus	Systemic lupus erythematosus	N/A	N/A	GWAS

Show/Hide Text Mining Associations (39)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Agenesis of Cerebellar Vermis	Associate	15060101, 15467982, 15786477, 16155189, 17160906, 17960139, 18782849, 18950740, 20371615, 26541515, 26759440, 28391287, 29146704, 29334628, 29390414 View all (7 more)
Apraxia oculomotor Cogan type	Associate	28391287
Attention Deficit Disorder with Hyperactivity	Associate	30529763
Autism Spectrum Disorder	Associate	18782849, 24736721
Autistic Disorder	Associate	18782849, 20371615, 20683928
Cell Transformation Viral	Associate	19211505, 22183070
Ciliopathies	Associate	21068128, 28442542, 34205586
Developmental Disabilities	Associate	26759440
Diabetes Mellitus Type 2	Associate	17668382
Fractures Bone	Associate	26759440
Hydatidiform Mole	Associate	16155189, 29334628, 34627237
Immunoglobulin G4 Related Disease	Associate	20683928
Intellectual Disability	Associate	20683928
Kidney Diseases	Associate	16155189, 29146704
Kidney Diseases Cystic	Associate	16155189
Leber Congenital Amaurosis	Associate	20683928
Leukemia	Associate	19211505, 28366933
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	22183070, 28366933
Light Fixation Seizure Syndrome	Associate	26759440
Lymphoma	Associate	19211505
Lymphoma T Cell Cutaneous	Associate	19211505, 23171462
Meckel syndrome type 1	Associate	26729329
Mental Disorders	Associate	19783549
Mental Retardation X Linked Nonsyndromic	Associate	34205586
Multiple Sclerosis	Associate	27861577, 29409597
Muscle Hypotonia	Associate	26759440
Neoplasms	Inhibit	23171462
Neoplasms	Associate	28361800
Nephronophthisis 2	Associate	21866095
Nephronophthisis familial juvenile	Associate	21866095
Nystagmus Pathologic	Associate	26759440
Polymicrogyria	Associate	15467982, 15786477
Retinal Diseases	Associate	28442542
Retinal Dystrophies	Associate	16155189, 25356976, 26759440
Retinitis Pigmentosa	Associate	25356976, 28442542, 34627237
RHYNS syndrome	Associate	28442542
Schizophrenia	Associate	18782849, 20371615, 24736721
Sezary Syndrome	Associate	19211505
Strabismus	Associate	28391287

AHI1 (Abelson helper integration site 1)