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.	6299
Gene name Gene Name - the full gene name approved by the HGNC.	Spalt like transcription factor 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	SALL1
Synonyms (NCBI Gene) Gene synonyms aliases	HEL-S-89, HSAL1, Sal-1, TBS, ZNF794
Chromosome Chromosome number	16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	16q12.1
Summary Summary of gene provided in NCBI Entrez Gene.	The protein encoded by this gene is a zinc finger transcriptional repressor and may be part of the NuRD histone deacetylase complex (HDAC). Defects in this gene are a cause of Townes-Brocks syndrome (TBS) as well as bronchio-oto-renal syndrome (BOR). Two

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SNP ID	Visualize variation	Clinical significance	Consequence
rs104894535	G>C,T	Pathogenic	Coding sequence variant, stop gained
rs104894537	G>A,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs104894538	G>A	Pathogenic	Coding sequence variant, stop gained
rs113614842	GCTGCTGCTGCTGCT>-,GCT,GCTGCT,GCTGCTGCT,GCTGCTGCTGCT,GCTGCTGCTGCTGCTGCT,GCTGCTGCTGCTGCTGCTGCT,GCTGCTGCTGCTGCTGCTGCTGCT,GCTGCTGCTGCTGCTGCTGCTGCTGCT	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign, benign	Inframe deletion, coding sequence variant, inframe insertion
rs137853084	A>T	Pathogenic	Coding sequence variant, stop gained
rs780221020	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs864321635	G>A	Pathogenic, uncertain-significance	Coding sequence variant, stop gained
rs864621971	G>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs886041236	->GA	Pathogenic	Frameshift variant, coding sequence variant
rs886042011	->TTGCAAA	Pathogenic	Frameshift variant, coding sequence variant
rs886044708	G>A	Pathogenic	Stop gained, coding sequence variant
rs1057518131	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1057518232	G>-,GG	Pathogenic	Frameshift variant, coding sequence variant
rs1057518273	G>A	Pathogenic	Stop gained, coding sequence variant
rs1064793257	AT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1064796960	AC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1085307143	AC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555475106	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555475120	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555475275	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1555475319	G>A	Pathogenic	Stop gained, coding sequence variant
rs1555475334	A>T	Pathogenic	Stop gained, coding sequence variant
rs1555475342	G>A	Pathogenic	Stop gained, coding sequence variant
rs1567316325	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1597228188	AGCA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597228490	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1597228550	CACT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1597228568	->ATCC	Pathogenic	Coding sequence variant, frameshift variant
rs1597229025	->A	Likely-pathogenic	Coding sequence variant, stop gained
rs1597229151	->T	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1597229404	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1597229721	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597230241	GT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597230288	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597230341	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597230349	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597230687	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597230909	GC>-	Pathogenic	Coding sequence variant, frameshift variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT027034	hsa-miR-103a-3p	Sequencing	20371350
MIRT029033	hsa-miR-26b-5p	Microarray	19088304
MIRT031523	hsa-miR-16-5p	Sequencing	20371350
MIRT051534	hsa-let-7e-5p	CLASH	23622248
MIRT044785	hsa-miR-320a	CLASH	23622248
MIRT038173	hsa-miR-423-5p	CLASH	23622248
MIRT037498	hsa-miR-744-5p	CLASH	23622248
MIRT622377	hsa-miR-548ac	HITS-CLIP	23824327
MIRT622376	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT622375	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT622374	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT622373	hsa-miR-548z	HITS-CLIP	23824327
MIRT622372	hsa-miR-548aa	HITS-CLIP	23824327
MIRT622371	hsa-miR-548ap-3p	HITS-CLIP	23824327
MIRT622370	hsa-miR-548t-3p	HITS-CLIP	23824327
MIRT622369	hsa-miR-607	HITS-CLIP	23824327
MIRT622380	hsa-miR-548b-3p	HITS-CLIP	23824327
MIRT622379	hsa-miR-1208	HITS-CLIP	23824327
MIRT622378	hsa-miR-622	HITS-CLIP	23824327
MIRT622369	hsa-miR-607	HITS-CLIP	23824327
MIRT622377	hsa-miR-548ac	HITS-CLIP	23824327
MIRT622376	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT622375	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT622374	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT622373	hsa-miR-548z	HITS-CLIP	23824327
MIRT622372	hsa-miR-548aa	HITS-CLIP	23824327
MIRT622371	hsa-miR-548ap-3p	HITS-CLIP	23824327
MIRT622370	hsa-miR-548t-3p	HITS-CLIP	23824327
MIRT622369	hsa-miR-607	HITS-CLIP	23824327
MIRT546613	hsa-miR-338-3p	PAR-CLIP	20371350
MIRT546612	hsa-miR-107	PAR-CLIP	20371350
MIRT027034	hsa-miR-103a-3p	PAR-CLIP	20371350
MIRT546611	hsa-miR-15a-5p	PAR-CLIP	20371350
MIRT546610	hsa-miR-424-5p	PAR-CLIP	20371350
MIRT546609	hsa-miR-497-5p	PAR-CLIP	20371350
MIRT546608	hsa-miR-6838-5p	PAR-CLIP	20371350
MIRT031523	hsa-miR-16-5p	PAR-CLIP	20371350
MIRT546607	hsa-miR-15b-5p	PAR-CLIP	20371350
MIRT546606	hsa-miR-195-5p	PAR-CLIP	20371350
MIRT546605	hsa-miR-503-5p	PAR-CLIP	20371350
MIRT546604	hsa-miR-374c-3p	PAR-CLIP	20371350
MIRT546603	hsa-miR-646	PAR-CLIP	20371350
MIRT546601	hsa-miR-4310	PAR-CLIP	20371350
MIRT546602	hsa-miR-7157-5p	PAR-CLIP	20371350
MIRT546600	hsa-miR-4289	PAR-CLIP	20371350
MIRT284250	hsa-miR-1250-3p	PAR-CLIP	20371350
MIRT546599	hsa-miR-4530	PAR-CLIP	20371350
MIRT546598	hsa-miR-4524a-5p	PAR-CLIP	20371350
MIRT546597	hsa-miR-4524b-5p	PAR-CLIP	20371350
MIRT546596	hsa-miR-6512-3p	PAR-CLIP	20371350
MIRT546595	hsa-miR-6720-5p	PAR-CLIP	20371350
MIRT546594	hsa-miR-3611	PAR-CLIP	20371350
MIRT546593	hsa-miR-374b-3p	PAR-CLIP	20371350
MIRT565936	hsa-miR-7159-3p	PAR-CLIP	20371350
MIRT565935	hsa-miR-4482-3p	PAR-CLIP	20371350
MIRT546613	hsa-miR-338-3p	PAR-CLIP	20371350
MIRT546612	hsa-miR-107	PAR-CLIP	20371350
MIRT027034	hsa-miR-103a-3p	PAR-CLIP	20371350
MIRT546611	hsa-miR-15a-5p	PAR-CLIP	20371350
MIRT546610	hsa-miR-424-5p	PAR-CLIP	20371350
MIRT546609	hsa-miR-497-5p	PAR-CLIP	20371350
MIRT546608	hsa-miR-6838-5p	PAR-CLIP	20371350
MIRT031523	hsa-miR-16-5p	PAR-CLIP	20371350
MIRT546607	hsa-miR-15b-5p	PAR-CLIP	20371350
MIRT546606	hsa-miR-195-5p	PAR-CLIP	20371350
MIRT546605	hsa-miR-503-5p	PAR-CLIP	20371350
MIRT546604	hsa-miR-374c-3p	PAR-CLIP	20371350
MIRT546603	hsa-miR-646	PAR-CLIP	20371350
MIRT546601	hsa-miR-4310	PAR-CLIP	20371350
MIRT546602	hsa-miR-7157-5p	PAR-CLIP	20371350
MIRT546600	hsa-miR-4289	PAR-CLIP	20371350
MIRT546599	hsa-miR-4530	PAR-CLIP	20371350
MIRT546598	hsa-miR-4524a-5p	PAR-CLIP	20371350
MIRT546597	hsa-miR-4524b-5p	PAR-CLIP	20371350
MIRT546596	hsa-miR-6512-3p	PAR-CLIP	20371350
MIRT546595	hsa-miR-6720-5p	PAR-CLIP	20371350
MIRT546594	hsa-miR-3611	PAR-CLIP	20371350
MIRT546593	hsa-miR-374b-3p	PAR-CLIP	20371350
MIRT546613	hsa-miR-338-3p	PAR-CLIP	21572407
MIRT546612	hsa-miR-107	PAR-CLIP	21572407
MIRT027034	hsa-miR-103a-3p	PAR-CLIP	21572407
MIRT546611	hsa-miR-15a-5p	PAR-CLIP	21572407
MIRT546610	hsa-miR-424-5p	PAR-CLIP	21572407
MIRT546609	hsa-miR-497-5p	PAR-CLIP	21572407
MIRT546608	hsa-miR-6838-5p	PAR-CLIP	21572407
MIRT031523	hsa-miR-16-5p	PAR-CLIP	21572407
MIRT546607	hsa-miR-15b-5p	PAR-CLIP	21572407
MIRT546606	hsa-miR-195-5p	PAR-CLIP	21572407
MIRT546605	hsa-miR-503-5p	PAR-CLIP	21572407
MIRT546604	hsa-miR-374c-3p	PAR-CLIP	21572407
MIRT546603	hsa-miR-646	PAR-CLIP	21572407
MIRT546601	hsa-miR-4310	PAR-CLIP	21572407
MIRT546602	hsa-miR-7157-5p	PAR-CLIP	21572407
MIRT546600	hsa-miR-4289	PAR-CLIP	21572407
MIRT546599	hsa-miR-4530	PAR-CLIP	21572407
MIRT546598	hsa-miR-4524a-5p	PAR-CLIP	21572407
MIRT546597	hsa-miR-4524b-5p	PAR-CLIP	21572407
MIRT546596	hsa-miR-6512-3p	PAR-CLIP	21572407
MIRT546595	hsa-miR-6720-5p	PAR-CLIP	21572407
MIRT546594	hsa-miR-3611	PAR-CLIP	21572407
MIRT546593	hsa-miR-374b-3p	PAR-CLIP	21572407
MIRT534537	hsa-miR-505-3p	PAR-CLIP	22012620
MIRT534536	hsa-miR-21-3p	PAR-CLIP	22012620
MIRT534535	hsa-miR-3591-3p	PAR-CLIP	22012620
MIRT534534	hsa-miR-10b-3p	PAR-CLIP	22012620
MIRT534533	hsa-miR-4649-3p	PAR-CLIP	22012620
MIRT534532	hsa-miR-1827	PAR-CLIP	22012620
MIRT534531	hsa-miR-7112-3p	PAR-CLIP	22012620
MIRT534530	hsa-miR-4711-5p	PAR-CLIP	22012620
MIRT534529	hsa-miR-1256	PAR-CLIP	22012620
MIRT534528	hsa-miR-5007-3p	PAR-CLIP	22012620
MIRT622377	hsa-miR-548ac	HITS-CLIP	23824327
MIRT622376	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT622375	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT622374	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT622373	hsa-miR-548z	HITS-CLIP	23824327
MIRT622372	hsa-miR-548aa	HITS-CLIP	23824327
MIRT622371	hsa-miR-548ap-3p	HITS-CLIP	23824327
MIRT622370	hsa-miR-548t-3p	HITS-CLIP	23824327
MIRT622369	hsa-miR-607	HITS-CLIP	23824327
MIRT622380	hsa-miR-548b-3p	HITS-CLIP	23824327
MIRT622379	hsa-miR-1208	HITS-CLIP	23824327
MIRT622378	hsa-miR-622	HITS-CLIP	23824327
MIRT622369	hsa-miR-607	HITS-CLIP	23824327
MIRT622377	hsa-miR-548ac	HITS-CLIP	23824327
MIRT622376	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT622375	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT622374	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT622373	hsa-miR-548z	HITS-CLIP	23824327
MIRT622372	hsa-miR-548aa	HITS-CLIP	23824327
MIRT622371	hsa-miR-548ap-3p	HITS-CLIP	23824327
MIRT622370	hsa-miR-548t-3p	HITS-CLIP	23824327
MIRT622369	hsa-miR-607	HITS-CLIP	23824327
MIRT546613	hsa-miR-338-3p	PAR-CLIP	20371350
MIRT546612	hsa-miR-107	PAR-CLIP	20371350
MIRT027034	hsa-miR-103a-3p	PAR-CLIP	20371350
MIRT546611	hsa-miR-15a-5p	PAR-CLIP	20371350
MIRT546610	hsa-miR-424-5p	PAR-CLIP	20371350
MIRT546609	hsa-miR-497-5p	PAR-CLIP	20371350
MIRT546608	hsa-miR-6838-5p	PAR-CLIP	20371350
MIRT031523	hsa-miR-16-5p	PAR-CLIP	20371350
MIRT546607	hsa-miR-15b-5p	PAR-CLIP	20371350
MIRT546606	hsa-miR-195-5p	PAR-CLIP	20371350
MIRT546605	hsa-miR-503-5p	PAR-CLIP	20371350
MIRT546604	hsa-miR-374c-3p	PAR-CLIP	20371350
MIRT546603	hsa-miR-646	PAR-CLIP	20371350
MIRT546601	hsa-miR-4310	PAR-CLIP	20371350
MIRT546602	hsa-miR-7157-5p	PAR-CLIP	20371350
MIRT546600	hsa-miR-4289	PAR-CLIP	20371350
MIRT284250	hsa-miR-1250-3p	PAR-CLIP	20371350
MIRT546599	hsa-miR-4530	PAR-CLIP	20371350
MIRT546598	hsa-miR-4524a-5p	PAR-CLIP	20371350
MIRT546597	hsa-miR-4524b-5p	PAR-CLIP	20371350
MIRT546596	hsa-miR-6512-3p	PAR-CLIP	20371350
MIRT546595	hsa-miR-6720-5p	PAR-CLIP	20371350
MIRT546594	hsa-miR-3611	PAR-CLIP	20371350
MIRT546593	hsa-miR-374b-3p	PAR-CLIP	20371350
MIRT565936	hsa-miR-7159-3p	PAR-CLIP	20371350
MIRT565935	hsa-miR-4482-3p	PAR-CLIP	20371350
MIRT546613	hsa-miR-338-3p	PAR-CLIP	20371350
MIRT546612	hsa-miR-107	PAR-CLIP	20371350
MIRT027034	hsa-miR-103a-3p	PAR-CLIP	20371350
MIRT546611	hsa-miR-15a-5p	PAR-CLIP	20371350
MIRT546610	hsa-miR-424-5p	PAR-CLIP	20371350
MIRT546609	hsa-miR-497-5p	PAR-CLIP	20371350
MIRT546608	hsa-miR-6838-5p	PAR-CLIP	20371350
MIRT031523	hsa-miR-16-5p	PAR-CLIP	20371350
MIRT546607	hsa-miR-15b-5p	PAR-CLIP	20371350
MIRT546606	hsa-miR-195-5p	PAR-CLIP	20371350
MIRT546605	hsa-miR-503-5p	PAR-CLIP	20371350
MIRT546604	hsa-miR-374c-3p	PAR-CLIP	20371350
MIRT546603	hsa-miR-646	PAR-CLIP	20371350
MIRT546601	hsa-miR-4310	PAR-CLIP	20371350
MIRT546602	hsa-miR-7157-5p	PAR-CLIP	20371350
MIRT546600	hsa-miR-4289	PAR-CLIP	20371350
MIRT546599	hsa-miR-4530	PAR-CLIP	20371350
MIRT546598	hsa-miR-4524a-5p	PAR-CLIP	20371350
MIRT546597	hsa-miR-4524b-5p	PAR-CLIP	20371350
MIRT546596	hsa-miR-6512-3p	PAR-CLIP	20371350
MIRT546595	hsa-miR-6720-5p	PAR-CLIP	20371350
MIRT546594	hsa-miR-3611	PAR-CLIP	20371350
MIRT546593	hsa-miR-374b-3p	PAR-CLIP	20371350
MIRT546613	hsa-miR-338-3p	PAR-CLIP	21572407
MIRT546612	hsa-miR-107	PAR-CLIP	21572407
MIRT027034	hsa-miR-103a-3p	PAR-CLIP	21572407
MIRT546611	hsa-miR-15a-5p	PAR-CLIP	21572407
MIRT546610	hsa-miR-424-5p	PAR-CLIP	21572407
MIRT546609	hsa-miR-497-5p	PAR-CLIP	21572407
MIRT546608	hsa-miR-6838-5p	PAR-CLIP	21572407
MIRT031523	hsa-miR-16-5p	PAR-CLIP	21572407
MIRT546607	hsa-miR-15b-5p	PAR-CLIP	21572407
MIRT546606	hsa-miR-195-5p	PAR-CLIP	21572407
MIRT546605	hsa-miR-503-5p	PAR-CLIP	21572407
MIRT546604	hsa-miR-374c-3p	PAR-CLIP	21572407
MIRT546603	hsa-miR-646	PAR-CLIP	21572407
MIRT546601	hsa-miR-4310	PAR-CLIP	21572407
MIRT546602	hsa-miR-7157-5p	PAR-CLIP	21572407
MIRT546600	hsa-miR-4289	PAR-CLIP	21572407
MIRT546599	hsa-miR-4530	PAR-CLIP	21572407
MIRT546598	hsa-miR-4524a-5p	PAR-CLIP	21572407
MIRT546597	hsa-miR-4524b-5p	PAR-CLIP	21572407
MIRT546596	hsa-miR-6512-3p	PAR-CLIP	21572407
MIRT546595	hsa-miR-6720-5p	PAR-CLIP	21572407
MIRT546594	hsa-miR-3611	PAR-CLIP	21572407
MIRT546593	hsa-miR-374b-3p	PAR-CLIP	21572407
MIRT534537	hsa-miR-505-3p	PAR-CLIP	22012620
MIRT534536	hsa-miR-21-3p	PAR-CLIP	22012620
MIRT534535	hsa-miR-3591-3p	PAR-CLIP	22012620
MIRT534534	hsa-miR-10b-3p	PAR-CLIP	22012620
MIRT534533	hsa-miR-4649-3p	PAR-CLIP	22012620
MIRT534532	hsa-miR-1827	PAR-CLIP	22012620
MIRT534531	hsa-miR-7112-3p	PAR-CLIP	22012620
MIRT534530	hsa-miR-4711-5p	PAR-CLIP	22012620
MIRT534529	hsa-miR-1256	PAR-CLIP	22012620
MIRT534528	hsa-miR-5007-3p	PAR-CLIP	22012620
MIRT1324889	hsa-miR-103a	CLIP-seq
MIRT1324890	hsa-miR-15a	CLIP-seq
MIRT1324891	hsa-miR-15b	CLIP-seq
MIRT1324892	hsa-miR-16	CLIP-seq
MIRT1324893	hsa-miR-195	CLIP-seq
MIRT1324894	hsa-miR-424	CLIP-seq
MIRT1324895	hsa-miR-4524	CLIP-seq
MIRT1324896	hsa-miR-497	CLIP-seq
MIRT1324897	hsa-miR-503	CLIP-seq
MIRT1324898	hsa-miR-1908	CLIP-seq
MIRT1324899	hsa-miR-3180	CLIP-seq
MIRT1324900	hsa-miR-3180-3p	CLIP-seq
MIRT1324901	hsa-miR-3196	CLIP-seq
MIRT1324902	hsa-miR-4447	CLIP-seq
MIRT1324903	hsa-miR-4472	CLIP-seq
MIRT1324904	hsa-miR-4651	CLIP-seq
MIRT1324905	hsa-miR-608	CLIP-seq
MIRT1324906	hsa-miR-663	CLIP-seq
MIRT1324907	hsa-miR-744	CLIP-seq
MIRT2432906	hsa-miR-101	CLIP-seq
MIRT2432907	hsa-miR-1297	CLIP-seq
MIRT2432908	hsa-miR-144	CLIP-seq
MIRT2432909	hsa-miR-26a	CLIP-seq
MIRT2432910	hsa-miR-26b	CLIP-seq
MIRT2432911	hsa-miR-3143	CLIP-seq
MIRT2432912	hsa-miR-3613-3p	CLIP-seq
MIRT2432913	hsa-miR-4282	CLIP-seq
MIRT2432914	hsa-miR-4465	CLIP-seq
MIRT2432915	hsa-miR-4477a	CLIP-seq
MIRT2432916	hsa-miR-4709-3p	CLIP-seq
MIRT2432917	hsa-miR-543	CLIP-seq
MIRT2432918	hsa-miR-582-5p	CLIP-seq
MIRT2440034	hsa-miR-3120-3p	CLIP-seq
MIRT2458725	hsa-miR-1252	CLIP-seq
MIRT2458726	hsa-miR-2110	CLIP-seq
MIRT2458727	hsa-miR-3179	CLIP-seq
MIRT1324899	hsa-miR-3180	CLIP-seq
MIRT1324900	hsa-miR-3180-3p	CLIP-seq
MIRT1324901	hsa-miR-3196	CLIP-seq
MIRT2458728	hsa-miR-3202	CLIP-seq
MIRT2458729	hsa-miR-4271	CLIP-seq
MIRT2458730	hsa-miR-4476	CLIP-seq
MIRT2458731	hsa-miR-4667-5p	CLIP-seq
MIRT2458732	hsa-miR-4700-5p	CLIP-seq
MIRT2458733	hsa-miR-4725-3p	CLIP-seq
MIRT2458734	hsa-miR-637	CLIP-seq
MIRT2458725	hsa-miR-1252	CLIP-seq
MIRT2458726	hsa-miR-2110	CLIP-seq
MIRT2458727	hsa-miR-3179	CLIP-seq
MIRT1324899	hsa-miR-3180	CLIP-seq
MIRT1324900	hsa-miR-3180-3p	CLIP-seq
MIRT1324901	hsa-miR-3196	CLIP-seq
MIRT2458728	hsa-miR-3202	CLIP-seq
MIRT2458729	hsa-miR-4271	CLIP-seq
MIRT2458730	hsa-miR-4476	CLIP-seq
MIRT2458731	hsa-miR-4667-5p	CLIP-seq
MIRT2458732	hsa-miR-4700-5p	CLIP-seq
MIRT2458733	hsa-miR-4725-3p	CLIP-seq
MIRT2458734	hsa-miR-637	CLIP-seq
MIRT2458725	hsa-miR-1252	CLIP-seq
MIRT2458726	hsa-miR-2110	CLIP-seq
MIRT2458727	hsa-miR-3179	CLIP-seq
MIRT1324899	hsa-miR-3180	CLIP-seq
MIRT1324900	hsa-miR-3180-3p	CLIP-seq
MIRT1324901	hsa-miR-3196	CLIP-seq
MIRT2458728	hsa-miR-3202	CLIP-seq
MIRT2458729	hsa-miR-4271	CLIP-seq
MIRT2458730	hsa-miR-4476	CLIP-seq
MIRT2458731	hsa-miR-4667-5p	CLIP-seq
MIRT2458732	hsa-miR-4700-5p	CLIP-seq
MIRT2458733	hsa-miR-4725-3p	CLIP-seq
MIRT2458734	hsa-miR-637	CLIP-seq

Show/Hide all(49)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	16443351
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000792	Component	Heterochromatin	IDA	15158448
GO:0000792	Component	Heterochromatin	IEA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA
GO:0001657	Process	Ureteric bud development	ISS
GO:0001658	Process	Branching involved in ureteric bud morphogenesis	ISS
GO:0001822	Process	Kidney development	IMP	16971658
GO:0003281	Process	Ventricular septum development	ISS
GO:0003337	Process	Mesenchymal to epithelial transition involved in metanephros morphogenesis	IEA
GO:0003337	Process	Mesenchymal to epithelial transition involved in metanephros morphogenesis	IEP	11511981
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	18297069, 32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	12065233, 16443351
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IDA	12065233
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0007507	Process	Heart development	IEA
GO:0007507	Process	Heart development	IMP	11484202
GO:0008013	Function	Beta-catenin binding	IDA	15158448
GO:0008270	Function	Zinc ion binding	IEA
GO:0008406	Process	Gonad development	IEP	11511981
GO:0009966	Process	Regulation of signal transduction	IEA
GO:0010369	Component	Chromocenter	IDA	16443351
GO:0021553	Process	Olfactory nerve development	ISS
GO:0021772	Process	Olfactory bulb development	IEA
GO:0021889	Process	Olfactory bulb interneuron differentiation	ISS
GO:0021983	Process	Pituitary gland development	IEP	12065233
GO:0030177	Process	Positive regulation of Wnt signaling pathway	IDA	15158448
GO:0030325	Process	Adrenal gland development	IEP	12065233
GO:0031129	Process	Inductive cell-cell signaling	ISS
GO:0035295	Process	Tube development	IEA
GO:0042733	Process	Embryonic digit morphogenesis	IEA
GO:0042733	Process	Embryonic digit morphogenesis	IMP	18280297
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	16443351
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	15158448
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	15158448
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048566	Process	Embryonic digestive tract development	IMP	18280297
GO:0060173	Process	Limb development	IMP	18470945
GO:0061034	Process	Olfactory bulb mitral cell layer development	IMP	18024993
GO:0072073	Process	Kidney epithelium development	ISS
GO:0072092	Process	Ureteric bud invasion	ISS

MIM	HGNC	e!Ensembl
602218	10524	ENSG00000103449

Protein

UniProt ID

Q9NSC2

Protein name

Sal-like protein 1 (Spalt-like transcription factor 1) (Zinc finger protein 794) (Zinc finger protein SALL1) (Zinc finger protein Spalt-1) (HSal1) (Sal-1)

Protein function

Transcriptional repressor involved in organogenesis. Plays an essential role in ureteric bud invasion during kidney development.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00096	zf-C2H2	477 → 499	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	734 → 756	Zinc finger, C2H2 type	Domain
PF12874	zf-met	766 → 786		Domain
PF12874	zf-met	1001 → 1024		Domain
PF00096	zf-C2H2	1029 → 1051	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	1134 → 1156	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	1162 → 1184	Zinc finger, C2H2 type	Domain

Tissue specificity

TISSUE SPECIFICITY: Highest levels in kidney. Lower levels in adult brain (enriched in corpus callosum, lower expression in substantia nigra) and liver.

Sequence

MSRRKQAKPQHFQSDPEVASLPRRDGDTEKGQPSRPTKSKDAHVCGRCCAEFFELSDLLL
HKKNCTKNQLVLIVNENPASPPETFSPSPPPDNPDEQMNDTVNKTDQVDCSDLSEHNGLD
REESMEVEAPVANKSGSGTSSGSHSSTAPSSSSSSSSSSGGGGSSSTGTSAITTSLPQLG
DLTTLGNFSVINSNVIIENLQSTKVAVAQFSQEARCGGASGGKLAVPALMEQLLALQQQQ
IHQLQLIEQIRHQILLLASQNADLPTSSSPSQGTLRTSANPLSTLSSHLSQQLAAAAGLA
QSLASQSASISGVKQLPPIQLPQSSSGNTIIPSNSGSSPNMNILAAAVTTPSSEKVASSA
GASHVSNPAVSSSSSPAFAISSLLSPASNPLLPQQASANSVFPSPLPNIGTTAEDLNSLS
ALAQQRKSKPPNVTAFEAKSTSDEAFFKHKCRFCAKVFGSDSALQIHLRSHTGERPFKCN
ICGNRFSTKGNLKVHFQRHKEKYPHIQMNPYPVPEHLDNIPTSTGIPYGMSIPPEKPVTS
WLDTKPVLPTLTTSVGLPLPPTLPSLIPFIKTEEPAPIPISHSATSPPGSVKSDSGGPES
ATRNLGGLPEEAEGSTLPPSGGKSEESGMVTNSVPTASSSVLSSPAADCGPAGSATTFTN
PLLPLMSEQFKAKFPFGGLLDSAQASETSKLQQLVENIDKKATDPNECIICHRVLSCQSA
LKMHYRTHTGERPFKCKICGRAFTTKGNLKTHYSVHRAMPPLRVQHSCPICQKKFTNAVV
LQQHIRMHMGGQIPNTPVPDSYSESMESDTGSFDEKNFDDLDNFSDENMEDCPEGSIPDT
PKSADASQDSLSSSPLPLEMSSIAALENQMKMINAGLAEQLQASLKSVENGSIEGDVLTN
DSSSVGGDMESQSAGSPAISESTSSMQALSPSNSTQEFHKSPSIEEKPQRAVPSEFANGL
SPTPVNGGALDLTSSHAEKIIKEDSLGILFPFRDRGKFKNTACDICGKTFACQSALDIHY
RSHTKERPFICTVCNRGFSTKGNLKQHMLTHQMRDLPSQLFEPSSNLGPNQNSAVIPANS
LSSLIKTEVNGFVHVSPQDSKDTPTSHVPSGPLSSSATSPVLLPALPRRTPKQHYCNTCG
KTFSSSSALQIHERTHTGEKPFACTICGRAFTTKGNLKVHMGTHMWNSTPARRGRRLSVD
GPMTFLGGNPVKFPEMFQKDLAARSGSGDPSSFWNQYAAALSNGLAMKANEISVIQNGGI
PPIPGSLGSGNSSPVSGLTGNLERLQNSEPNAPLAGLEKMASSENGTNFRFTRFVEDSKE
IVTS

Sequence length

1324

Interactions

View interactions

	Reactome
			POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation

Show/Hide Causal Diseases (3)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Townes Syndrome	townes syndrome	rs1597228188, rs1597230288, rs1064793257, rs1555475275, rs104894538, rs1555475120, rs1555475342, rs1555475106, rs1555475319, rs1555475334, rs104894537, rs864321635, rs1567316325, rs886041236	N/A
Townes-Brocks Syndrome	townes-brocks syndrome 1	rs1597230241, rs1064793257, rs1597228568, rs1597230909, rs1085307143, rs1597228490, rs1597229151, rs104894538, rs1597230349, rs137853084, rs104894535, rs1597230687, rs104894537, rs864321635, rs1597230341	N/A
Townes-Brocks-Branchiootorenal-Like Syndrome	townes-brocks-branchiootorenal-like syndrome	rs1597229721, rs104894538	N/A

Show/Hide Unknown Diseases (5)

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.
Alzheimer disease	Alzheimer's disease or gastroesophageal reflux disease	N/A	N/A	GWAS
Congenital anomalies of kidney and urinary tract	Congenital anomaly of kidney and urinary tract	N/A	N/A	ClinVar
Diabetes Mellitus	Diabetes mellitus	N/A	N/A	GWAS
Insomnia	Insomnia	N/A	N/A	GWAS
Microcephaly	microcephaly	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (44)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Alcohol Related Disorders	Associate	23069192
Anus Imperforate	Associate	33478437
Blindness Cortical	Associate	23069192
Breast Neoplasms	Associate	20205715, 33441805
Cakut	Associate	24429398, 29197384
Colorectal Neoplasms	Associate	25774687
Congenital Abnormalities	Associate	23069192
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	32168371
Deafness	Associate	33095980
Dementia Vascular	Associate	39909351
Developmental Disabilities	Associate	23069192
Dwarfism Pituitary	Associate	23894113
Ear Diseases	Associate	33478437
Endocrine System Diseases	Associate	23894113, 38296632
Epilepsy	Associate	27878761
Foot Deformities	Associate	33478437
Glioblastoma	Inhibit	31040265
Glioma	Inhibit	31040265
Glomerulosclerosis Focal Segmental	Associate	39910415
Glycosuria Renal	Associate	33478437
Goldenhar Syndrome	Associate	9973281
Hearing Loss	Associate	33478437
Heart Defects Congenital	Associate	29110636, 33478437
Heart Diseases	Associate	32037394
Hypertension	Associate	24165912
Hypothyroidism	Associate	23894113
Intellectual Disability	Associate	23069192
Kidney Diseases	Associate	33478437
Leukemia Lymphocytic Chronic B Cell	Associate	20484983
Neoplasms	Associate	25774687, 31040265
Nervous System Malformations	Associate	23069192
Nonsyndromic Deafness	Associate	33478437
Obesity Abdominal	Associate	33441805
Olfaction Disorders	Associate	27878761
Parkinson Disease	Associate	27878761
Pediatric acute onset neuropsychiatric syndrome	Associate	27878761
Polydactyly	Associate	39910415
Prolapse	Associate	34027909
Renal Insufficiency Chronic	Associate	39910415
Schizophrenia	Associate	27878761
Squamous Cell Carcinoma of Head and Neck	Associate	34257535
Thumb deformity	Associate	33478437
Townes Brocks syndrome	Associate	20003547, 23069192, 23894113, 29110636, 33478437, 38296632, 39910415, 9973281
Urogenital Abnormalities	Associate	29110636, 33478437

SALL1 (spalt like transcription factor 1)