USH1G (USH1 protein network component sans)

Gene

• Entrez ID: 124590
• Gene name: USH1 protein network component sans
• Gene symbol: USH1G
• Synonyms (NCBI Gene): ANKS4A, SANS
• Chromosome: 17
• Chromosome location: 17q25.1
• Summary: This gene encodes a protein that contains three ankyrin domains, a class I PDZ-binding motif and a sterile alpha motif. The encoded protein interacts with harmonin, which is associated with Usher syndrome type 1C. This protein plays a role in the developm

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs142486910	G>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs147967199	T>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs201866631	C>A,T	Pathogenic, uncertain-significance	Stop gained, coding sequence variant, missense variant
rs397515345	ACGCTGTCCTCGTCCGAGAG>-	Pathogenic	Frameshift variant, coding sequence variant
rs397517925	T>A	Likely-pathogenic	Coding sequence variant, missense variant
rs538983393	C>T	Pathogenic	Coding sequence variant, missense variant
rs587776546	->C	Pathogenic	Coding sequence variant, frameshift variant
rs730880268	GT>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant, 5 prime UTR variant
rs886043626	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1316299165	C>A,G,T	Pathogenic	Missense variant, coding sequence variant
rs1555627787	->AG	Likely-pathogenic	Frameshift variant, intron variant, 5 prime UTR variant, coding sequence variant
rs1567939718	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1567939793	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1567940507	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1598584825	->G	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT621598	hsa-miR-8485	HITS-CLIP	23824327
MIRT611302	hsa-miR-4643	HITS-CLIP	23824327
MIRT611301	hsa-miR-8064	HITS-CLIP	23824327
MIRT621598	hsa-miR-8485	HITS-CLIP	23824327
MIRT611302	hsa-miR-4643	HITS-CLIP	23824327
MIRT611301	hsa-miR-8064	HITS-CLIP	23824327
MIRT621598	hsa-miR-8485	HITS-CLIP	23824327
MIRT611305	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611304	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT636146	hsa-miR-1178-3p	HITS-CLIP	23824327
MIRT621598	hsa-miR-8485	HITS-CLIP	23824327
MIRT611302	hsa-miR-4643	HITS-CLIP	23824327
MIRT611301	hsa-miR-8064	HITS-CLIP	23824327
MIRT611305	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611304	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT621598	hsa-miR-8485	HITS-CLIP	23824327
MIRT611301	hsa-miR-8064	HITS-CLIP	23824327
MIRT611302	hsa-miR-4643	HITS-CLIP	23824327
MIRT611301	hsa-miR-8064	HITS-CLIP	23824327
MIRT611305	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611304	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611303	hsa-miR-4696	HITS-CLIP	23824327
MIRT611302	hsa-miR-4643	HITS-CLIP	23824327
MIRT611301	hsa-miR-8064	HITS-CLIP	23824327
MIRT499750	hsa-miR-4779	PAR-CLIP	20371350
MIRT499749	hsa-miR-4690-3p	PAR-CLIP	20371350
MIRT499748	hsa-miR-5685	PAR-CLIP	20371350
MIRT499739	hsa-miR-1827	PAR-CLIP	20371350
MIRT499738	hsa-miR-184	PAR-CLIP	20371350
MIRT499737	hsa-miR-765	PAR-CLIP	20371350
MIRT499736	hsa-miR-3612	PAR-CLIP	20371350
MIRT499735	hsa-miR-650	PAR-CLIP	20371350
MIRT499734	hsa-miR-7106-5p	PAR-CLIP	20371350
MIRT499733	hsa-miR-6825-5p	PAR-CLIP	20371350
MIRT499725	hsa-miR-8071	PAR-CLIP	20371350
MIRT499724	hsa-miR-4804-5p	PAR-CLIP	20371350
MIRT499750	hsa-miR-4779	PAR-CLIP	20371350
MIRT499749	hsa-miR-4690-3p	PAR-CLIP	20371350
MIRT499748	hsa-miR-5685	PAR-CLIP	20371350
MIRT499747	hsa-miR-2276-5p	PAR-CLIP	20371350
MIRT499746	hsa-miR-326	PAR-CLIP	20371350
MIRT499745	hsa-miR-330-5p	PAR-CLIP	20371350
MIRT499744	hsa-miR-4667-5p	PAR-CLIP	20371350
MIRT499743	hsa-miR-4700-5p	PAR-CLIP	20371350
MIRT499741	hsa-miR-8089	PAR-CLIP	20371350
MIRT499742	hsa-miR-637	PAR-CLIP	20371350
MIRT499740	hsa-miR-7155-5p	PAR-CLIP	20371350
MIRT499739	hsa-miR-1827	PAR-CLIP	20371350
MIRT499738	hsa-miR-184	PAR-CLIP	20371350
MIRT499737	hsa-miR-765	PAR-CLIP	20371350
MIRT499736	hsa-miR-3612	PAR-CLIP	20371350
MIRT499735	hsa-miR-650	PAR-CLIP	20371350
MIRT499734	hsa-miR-7106-5p	PAR-CLIP	20371350
MIRT499733	hsa-miR-6825-5p	PAR-CLIP	20371350
MIRT499732	hsa-miR-342-5p	PAR-CLIP	20371350
MIRT499731	hsa-miR-4664-5p	PAR-CLIP	20371350
MIRT499730	hsa-miR-4651	PAR-CLIP	20371350
MIRT499729	hsa-miR-608	PAR-CLIP	20371350
MIRT499728	hsa-miR-6747-5p	PAR-CLIP	20371350
MIRT499727	hsa-miR-363-5p	PAR-CLIP	20371350
MIRT499726	hsa-miR-6745	PAR-CLIP	20371350
MIRT499725	hsa-miR-8071	PAR-CLIP	20371350
MIRT499724	hsa-miR-4804-5p	PAR-CLIP	20371350
MIRT499723	hsa-miR-6737-5p	PAR-CLIP	20371350
MIRT499722	hsa-miR-6812-5p	PAR-CLIP	20371350
MIRT499721	hsa-miR-6819-5p	PAR-CLIP	20371350
MIRT499750	hsa-miR-4779	PAR-CLIP	24398324
MIRT499749	hsa-miR-4690-3p	PAR-CLIP	24398324
MIRT499748	hsa-miR-5685	PAR-CLIP	24398324
MIRT499747	hsa-miR-2276-5p	PAR-CLIP	24398324
MIRT499746	hsa-miR-326	PAR-CLIP	24398324
MIRT499745	hsa-miR-330-5p	PAR-CLIP	24398324
MIRT499744	hsa-miR-4667-5p	PAR-CLIP	24398324
MIRT499743	hsa-miR-4700-5p	PAR-CLIP	24398324
MIRT499741	hsa-miR-8089	PAR-CLIP	24398324
MIRT499742	hsa-miR-637	PAR-CLIP	24398324
MIRT499740	hsa-miR-7155-5p	PAR-CLIP	24398324
MIRT499739	hsa-miR-1827	PAR-CLIP	24398324
MIRT499738	hsa-miR-184	PAR-CLIP	24398324
MIRT499737	hsa-miR-765	PAR-CLIP	24398324
MIRT499736	hsa-miR-3612	PAR-CLIP	24398324
MIRT499735	hsa-miR-650	PAR-CLIP	24398324
MIRT499734	hsa-miR-7106-5p	PAR-CLIP	24398324
MIRT499733	hsa-miR-6825-5p	PAR-CLIP	24398324
MIRT499732	hsa-miR-342-5p	PAR-CLIP	24398324
MIRT499731	hsa-miR-4664-5p	PAR-CLIP	24398324
MIRT499730	hsa-miR-4651	PAR-CLIP	24398324
MIRT499729	hsa-miR-608	PAR-CLIP	24398324
MIRT499728	hsa-miR-6747-5p	PAR-CLIP	24398324
MIRT499727	hsa-miR-363-5p	PAR-CLIP	24398324
MIRT499726	hsa-miR-6745	PAR-CLIP	24398324
MIRT499725	hsa-miR-8071	PAR-CLIP	24398324
MIRT499724	hsa-miR-4804-5p	PAR-CLIP	24398324
MIRT499723	hsa-miR-6737-5p	PAR-CLIP	24398324
MIRT499722	hsa-miR-6812-5p	PAR-CLIP	24398324
MIRT499721	hsa-miR-6819-5p	PAR-CLIP	24398324
MIRT621598	hsa-miR-8485	HITS-CLIP	23824327
MIRT611302	hsa-miR-4643	HITS-CLIP	23824327
MIRT611301	hsa-miR-8064	HITS-CLIP	23824327
MIRT621598	hsa-miR-8485	HITS-CLIP	23824327
MIRT611302	hsa-miR-4643	HITS-CLIP	23824327
MIRT611301	hsa-miR-8064	HITS-CLIP	23824327
MIRT621598	hsa-miR-8485	HITS-CLIP	23824327
MIRT611305	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611304	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT636146	hsa-miR-1178-3p	HITS-CLIP	23824327
MIRT621598	hsa-miR-8485	HITS-CLIP	23824327
MIRT611302	hsa-miR-4643	HITS-CLIP	23824327
MIRT611301	hsa-miR-8064	HITS-CLIP	23824327
MIRT611305	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611304	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT621598	hsa-miR-8485	HITS-CLIP	23824327
MIRT611301	hsa-miR-8064	HITS-CLIP	23824327
MIRT611302	hsa-miR-4643	HITS-CLIP	23824327
MIRT611301	hsa-miR-8064	HITS-CLIP	23824327
MIRT611305	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611304	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611303	hsa-miR-4696	HITS-CLIP	23824327
MIRT611302	hsa-miR-4643	HITS-CLIP	23824327
MIRT611301	hsa-miR-8064	HITS-CLIP	23824327
MIRT499750	hsa-miR-4779	PAR-CLIP	20371350
MIRT499749	hsa-miR-4690-3p	PAR-CLIP	20371350
MIRT499748	hsa-miR-5685	PAR-CLIP	20371350
MIRT499739	hsa-miR-1827	PAR-CLIP	20371350
MIRT499738	hsa-miR-184	PAR-CLIP	20371350
MIRT499737	hsa-miR-765	PAR-CLIP	20371350
MIRT499736	hsa-miR-3612	PAR-CLIP	20371350
MIRT499735	hsa-miR-650	PAR-CLIP	20371350
MIRT499734	hsa-miR-7106-5p	PAR-CLIP	20371350
MIRT499733	hsa-miR-6825-5p	PAR-CLIP	20371350
MIRT499725	hsa-miR-8071	PAR-CLIP	20371350
MIRT499724	hsa-miR-4804-5p	PAR-CLIP	20371350
MIRT499750	hsa-miR-4779	PAR-CLIP	20371350
MIRT499749	hsa-miR-4690-3p	PAR-CLIP	20371350
MIRT499748	hsa-miR-5685	PAR-CLIP	20371350
MIRT499747	hsa-miR-2276-5p	PAR-CLIP	20371350
MIRT499746	hsa-miR-326	PAR-CLIP	20371350
MIRT499745	hsa-miR-330-5p	PAR-CLIP	20371350
MIRT499744	hsa-miR-4667-5p	PAR-CLIP	20371350
MIRT499743	hsa-miR-4700-5p	PAR-CLIP	20371350
MIRT499741	hsa-miR-8089	PAR-CLIP	20371350
MIRT499742	hsa-miR-637	PAR-CLIP	20371350
MIRT499740	hsa-miR-7155-5p	PAR-CLIP	20371350
MIRT499739	hsa-miR-1827	PAR-CLIP	20371350
MIRT499738	hsa-miR-184	PAR-CLIP	20371350
MIRT499737	hsa-miR-765	PAR-CLIP	20371350
MIRT499736	hsa-miR-3612	PAR-CLIP	20371350
MIRT499735	hsa-miR-650	PAR-CLIP	20371350
MIRT499734	hsa-miR-7106-5p	PAR-CLIP	20371350
MIRT499733	hsa-miR-6825-5p	PAR-CLIP	20371350
MIRT499732	hsa-miR-342-5p	PAR-CLIP	20371350
MIRT499731	hsa-miR-4664-5p	PAR-CLIP	20371350
MIRT499730	hsa-miR-4651	PAR-CLIP	20371350
MIRT499729	hsa-miR-608	PAR-CLIP	20371350
MIRT499728	hsa-miR-6747-5p	PAR-CLIP	20371350
MIRT499727	hsa-miR-363-5p	PAR-CLIP	20371350
MIRT499726	hsa-miR-6745	PAR-CLIP	20371350
MIRT499725	hsa-miR-8071	PAR-CLIP	20371350
MIRT499724	hsa-miR-4804-5p	PAR-CLIP	20371350
MIRT499723	hsa-miR-6737-5p	PAR-CLIP	20371350
MIRT499722	hsa-miR-6812-5p	PAR-CLIP	20371350
MIRT499721	hsa-miR-6819-5p	PAR-CLIP	20371350
MIRT499750	hsa-miR-4779	PAR-CLIP	24398324
MIRT499749	hsa-miR-4690-3p	PAR-CLIP	24398324
MIRT499748	hsa-miR-5685	PAR-CLIP	24398324
MIRT499747	hsa-miR-2276-5p	PAR-CLIP	24398324
MIRT499746	hsa-miR-326	PAR-CLIP	24398324
MIRT499745	hsa-miR-330-5p	PAR-CLIP	24398324
MIRT499744	hsa-miR-4667-5p	PAR-CLIP	24398324
MIRT499743	hsa-miR-4700-5p	PAR-CLIP	24398324
MIRT499741	hsa-miR-8089	PAR-CLIP	24398324
MIRT499742	hsa-miR-637	PAR-CLIP	24398324
MIRT499740	hsa-miR-7155-5p	PAR-CLIP	24398324
MIRT499739	hsa-miR-1827	PAR-CLIP	24398324
MIRT499738	hsa-miR-184	PAR-CLIP	24398324
MIRT499737	hsa-miR-765	PAR-CLIP	24398324
MIRT499736	hsa-miR-3612	PAR-CLIP	24398324
MIRT499735	hsa-miR-650	PAR-CLIP	24398324
MIRT499734	hsa-miR-7106-5p	PAR-CLIP	24398324
MIRT499733	hsa-miR-6825-5p	PAR-CLIP	24398324
MIRT499732	hsa-miR-342-5p	PAR-CLIP	24398324
MIRT499731	hsa-miR-4664-5p	PAR-CLIP	24398324
MIRT499730	hsa-miR-4651	PAR-CLIP	24398324
MIRT499729	hsa-miR-608	PAR-CLIP	24398324
MIRT499728	hsa-miR-6747-5p	PAR-CLIP	24398324
MIRT499727	hsa-miR-363-5p	PAR-CLIP	24398324
MIRT499726	hsa-miR-6745	PAR-CLIP	24398324
MIRT499725	hsa-miR-8071	PAR-CLIP	24398324
MIRT499724	hsa-miR-4804-5p	PAR-CLIP	24398324
MIRT499723	hsa-miR-6737-5p	PAR-CLIP	24398324
MIRT499722	hsa-miR-6812-5p	PAR-CLIP	24398324
MIRT499721	hsa-miR-6819-5p	PAR-CLIP	24398324
MIRT1477187	hsa-miR-10a	CLIP-seq
MIRT1477188	hsa-miR-10b	CLIP-seq
MIRT1477189	hsa-miR-1197	CLIP-seq
MIRT1477190	hsa-miR-1236	CLIP-seq
MIRT1477191	hsa-miR-1286	CLIP-seq
MIRT1477192	hsa-miR-204	CLIP-seq
MIRT1477193	hsa-miR-211	CLIP-seq
MIRT1477194	hsa-miR-2115	CLIP-seq
MIRT1477195	hsa-miR-214	CLIP-seq
MIRT1477196	hsa-miR-28-5p	CLIP-seq
MIRT1477197	hsa-miR-3065-3p	CLIP-seq
MIRT1477198	hsa-miR-3139	CLIP-seq
MIRT1477199	hsa-miR-3176	CLIP-seq
MIRT1477200	hsa-miR-3179	CLIP-seq
MIRT1477201	hsa-miR-3192	CLIP-seq
MIRT1477202	hsa-miR-3619-3p	CLIP-seq
MIRT1477203	hsa-miR-3619-5p	CLIP-seq
MIRT1477204	hsa-miR-3620	CLIP-seq
MIRT1477205	hsa-miR-3663-3p	CLIP-seq
MIRT1477206	hsa-miR-3922-3p	CLIP-seq
MIRT1477207	hsa-miR-4283	CLIP-seq
MIRT1477208	hsa-miR-4314	CLIP-seq
MIRT1477209	hsa-miR-4488	CLIP-seq
MIRT1477210	hsa-miR-4489	CLIP-seq
MIRT1477211	hsa-miR-4530	CLIP-seq
MIRT1477212	hsa-miR-4646-5p	CLIP-seq
MIRT1477213	hsa-miR-4649-3p	CLIP-seq
MIRT1477214	hsa-miR-4656	CLIP-seq
MIRT1477215	hsa-miR-4688	CLIP-seq
MIRT1477216	hsa-miR-4691-3p	CLIP-seq
MIRT1477217	hsa-miR-4697-5p	CLIP-seq
MIRT1477218	hsa-miR-4722-5p	CLIP-seq
MIRT1477219	hsa-miR-4727-5p	CLIP-seq
MIRT1477220	hsa-miR-4731-5p	CLIP-seq
MIRT1477221	hsa-miR-4755-5p	CLIP-seq
MIRT1477222	hsa-miR-486-3p	CLIP-seq
MIRT1477223	hsa-miR-513b	CLIP-seq
MIRT1477224	hsa-miR-516a-3p	CLIP-seq
MIRT1477225	hsa-miR-558	CLIP-seq
MIRT1477226	hsa-miR-593	CLIP-seq
MIRT1477227	hsa-miR-623	CLIP-seq
MIRT1477228	hsa-miR-708	CLIP-seq
MIRT1477229	hsa-miR-760	CLIP-seq
MIRT1477230	hsa-miR-761	CLIP-seq
MIRT2143712	hsa-miR-1255a	CLIP-seq
MIRT2143713	hsa-miR-1255b	CLIP-seq
MIRT2143714	hsa-miR-1972	CLIP-seq
MIRT1477197	hsa-miR-3065-3p	CLIP-seq
MIRT2143715	hsa-miR-3155	CLIP-seq
MIRT2143716	hsa-miR-3155b	CLIP-seq
MIRT1477200	hsa-miR-3179	CLIP-seq
MIRT1477201	hsa-miR-3192	CLIP-seq
MIRT2143717	hsa-miR-331-3p	CLIP-seq
MIRT2143718	hsa-miR-361-3p	CLIP-seq
MIRT1477207	hsa-miR-4283	CLIP-seq
MIRT2143719	hsa-miR-4308	CLIP-seq
MIRT1477208	hsa-miR-4314	CLIP-seq
MIRT1477210	hsa-miR-4489	CLIP-seq
MIRT1477212	hsa-miR-4646-5p	CLIP-seq
MIRT1477215	hsa-miR-4688	CLIP-seq
MIRT2143720	hsa-miR-4755-3p	CLIP-seq
MIRT2143721	hsa-miR-484	CLIP-seq
MIRT1477222	hsa-miR-486-3p	CLIP-seq
MIRT1477229	hsa-miR-760	CLIP-seq
MIRT1477197	hsa-miR-3065-3p	CLIP-seq
MIRT1477200	hsa-miR-3179	CLIP-seq
MIRT1477201	hsa-miR-3192	CLIP-seq
MIRT2364028	hsa-miR-4257	CLIP-seq
MIRT1477207	hsa-miR-4283	CLIP-seq
MIRT1477208	hsa-miR-4314	CLIP-seq
MIRT1477210	hsa-miR-4489	CLIP-seq
MIRT1477212	hsa-miR-4646-5p	CLIP-seq
MIRT2364029	hsa-miR-466	CLIP-seq
MIRT1477215	hsa-miR-4688	CLIP-seq
MIRT2364030	hsa-miR-4789-3p	CLIP-seq
MIRT1477222	hsa-miR-486-3p	CLIP-seq
MIRT2364031	hsa-miR-596	CLIP-seq
MIRT2364032	hsa-miR-648	CLIP-seq
MIRT1477229	hsa-miR-760	CLIP-seq
MIRT2657751	hsa-miR-1292	CLIP-seq
MIRT2657752	hsa-miR-1324	CLIP-seq
MIRT2143718	hsa-miR-361-3p	CLIP-seq
MIRT2657753	hsa-miR-4471	CLIP-seq
MIRT2657751	hsa-miR-1292	CLIP-seq
MIRT2657752	hsa-miR-1324	CLIP-seq
MIRT2143718	hsa-miR-361-3p	CLIP-seq
MIRT2657753	hsa-miR-4471	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001917	Component	Photoreceptor inner segment	IDA	24608321
GO:0001917	Component	Photoreceptor inner segment	IEA
GO:0005515	Function	Protein binding	IPI	19028668, 20142502, 24608321, 25502805, 27173435, 28514442, 29997244, 31515488, 31637240, 32296183, 32814053, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005929	Component	Cilium	IEA
GO:0007605	Process	Sensory perception of sound	IBA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0007605	Process	Sensory perception of sound	IMP	11398101, 12588794
GO:0015030	Component	Cajal body	IDA	34023904
GO:0015030	Component	Cajal body	IEA
GO:0015629	Component	Actin cytoskeleton	IEA
GO:0015629	Component	Actin cytoskeleton	ISS	12588794
GO:0016020	Component	Membrane	IEA
GO:0016607	Component	Nuclear speck	IDA	34023904
GO:0016607	Component	Nuclear speck	IEA
GO:0030507	Function	Spectrin binding	IDA	23704327
GO:0032391	Component	Photoreceptor connecting cilium	IEA
GO:0036064	Component	Ciliary basal body	IEA
GO:0042472	Process	Inner ear morphogenesis	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	IPI	20142502
GO:0042995	Component	Cell projection	IEA
GO:0045494	Process	Photoreceptor cell maintenance	IMP	11398101
GO:0050953	Process	Sensory perception of light stimulus	IEA
GO:0050953	Process	Sensory perception of light stimulus	IMP	11398101
GO:0050957	Process	Equilibrioception	IEA
GO:0050957	Process	Equilibrioception	IMP	12588794
GO:0060113	Process	Inner ear receptor cell differentiation	IEA
GO:0060122	Process	Inner ear receptor cell stereocilium organization	IEA
GO:0097546	Component	Ciliary base	IDA	24608321
GO:0097733	Component	Photoreceptor cell cilium	IDA	31637240
GO:0120025	Component	Plasma membrane bounded cell projection	IEA
GO:2000369	Process	Regulation of clathrin-dependent endocytosis	IMP	24608321

Other IDs

• MIM: 607696
• HGNC: 16356
• e!Ensembl: ENSG00000182040

Protein

• UniProt ID: Q495M9
• Protein name: pre-mRNA splicing regulator USH1G (Scaffold protein containing ankyrin repeats and SAM domain) (Usher syndrome type-1G protein)
• Protein function: Plays a role in pre-mRNA splicing by regulating the release and transfer of U4/U6.U5 tri-small nuclear ribonucleoprotein (tri-snRNP) complexes from their assembly site in Cajal bodies to nuclear speckles, thereby contributing to the assembly of
• PDB: 2L7T, 3K1R, 3PVL
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12796	Ank_2	37 → 126	Ankyrin repeats (3 copies)	Repeat
  PF00536	SAM_1	388 → 447	SAM domain (Sterile alpha motif)	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in vestibule of the inner ear, eye and small intestine. {ECO:0000269|PubMed:12588794}.
• Sequence:

  MNDQYHRAARDGYLELLKEATRKELNAPDEDGMTPTLWAAYHGNLESLRLIVSRGGDPDK
  CDIWGNTPLHLAASNGHLHCLSFLVSFGANIWCLDNDYHTPLDMAAMKGHMECVRYLDSI
  AAKQSSLNPKLVGKLKDKAFREAERRIRECAKLQRRHHERMERRYRRELAERSDTLSFSS
  LTSSTLSRRLQHLALGSHLPYSQATLHGTARGKTKMQKKLERRKQGGEGTFKVSEDGRKS
  ARSLSGLQLGSDVMFVRQGTYANPKEWGRAPLRDMFLSDEDSVSRATLAAEPAHSEVSTD
  SGHDSLFTRPGLGTMVFRRNYLSSGLHGLGREDGGLDGVGAPRGRLQSSPSLDDDSLGSA
  NSLQDRSCGEELPWDELDLGLDEDLEPETSPLETFLASLHMEDFAALLRQEKIDLEALML
  CSDLDLRSISVPLGPRKKILGAVRRRRQAMERPPALEDTEL

• Sequence length: 461

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Deafness	Likely pathogenic; Pathogenic	rs1567939793, rs201866631	RCV000679845 RCV000679846	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hearing impairment	Likely pathogenic; Pathogenic	rs1567939718, rs1567940507	RCV000754557 RCV000754558	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hearing loss, autosomal recessive	Likely pathogenic; Pathogenic	rs1567939793, rs201866631	RCV001291496 RCV001291495	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rare genetic deafness	Likely pathogenic; Pathogenic	rs397517925	RCV000041415	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
USH1G-related disorder	Likely pathogenic	rs2544431166	RCV004545618	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Usher syndrome	Pathogenic; Likely pathogenic	rs773231689, rs1226851798, rs727504890, rs2544428980	RCV004699133 RCV001825113 RCV003123554 RCV003389558	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Usher syndrome type 1	Pathogenic	rs397515345, rs587776546, rs1555627787, rs1598584825	RCV000216021 RCV000222936 RCV001199566 RCV001003247	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Usher syndrome type 1G	Likely pathogenic; Pathogenic	rs1337840598, rs928656346, rs2144755152, rs2144754031, rs104894651, rs730880268, rs397515345, rs587776546, rs104894652, rs2544427345, rs2544435572, rs886043626, rs2544431739, rs751695203, rs2544435210, rs201866631, rs397517925, rs1316299165, rs1359109336	RCV002283541 RCV002495984 RCV001785118 RCV001785119 RCV000003048 RCV000003049 RCV000003050 RCV000003051 RCV000003052 RCV003155580 RCV003155581 RCV000985188 RCV005030125 RCV005412566 RCV000024283 RCV001002707 RCV001799509 RCV000770886 RCV002497446	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Autosomal recessive nonsyndromic hearing loss 18A	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 18	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEARING LOSS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC PULMONARY FIBROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-Syndromic Hereditary Hearing Impairment	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic atrophy	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Retinal dystrophy	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis pigmentosa-deafness syndrome	Uncertain significance; Benign; Likely benign	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
USHER SYNDROME, TYPE I	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
USHER SYNDROME, TYPE IG	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Anxiety	Anxiety Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aphasia	Aphasia	BEFREE	29128326		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathy	Pubtator	34023904	Associate	★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Congenital sensorineural hearing loss	Congenital Sensorineural Hearing Loss	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	33095980	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Depressive disorder	Mental Depression	BEFREE	19361959		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hallucinations	Hallucinations	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	12519370, 30872814, 33095980	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemianopsia	Hemianopsia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hereditary retinal dystrophy	Hereditary Retinal Dystrophy	CLINGEN_DG	11941484, 12588794, 17923142, 21436032, 22381527, 24608321, 25798947, 26936824, 27583663		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	19361959		★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	CLINGEN_DG	21436032, 22381527, 23804846, 24022220, 25255398, 25528277, 26226137, 26561413, 26969326, 30029624		★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
obsolete Rod-cone dystrophy	Rod-cone dystrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Rod-Cone Dystrophy	Rod-cone dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Schizoaffective Disorder	Schizoaffective Disorder	BEFREE	10667752, 9723138		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	10667752, 12084428, 29555213, 29996973, 30619470, 9723138		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Schizophrenia, Childhood	Schizophrenia	BEFREE	29146021		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Subcortical cerebral atrophy	Subcortical cerebral atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	17896313		★☆☆☆☆ Found in Text Mining only
Usher Syndrome	Usher Syndrome	BEFREE	16283141, 17896313, 21203349, 24608321, 25255398, 28137943, 29142287, 29339184		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Usher Syndrome	Usher Syndrome	LHGDN	16283141, 17896313		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Usher syndrome type 1	Usher Syndrome	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Usher syndrome type 1B	Usher syndrome	Pubtator	16679490, 21203349, 22219650	Associate	★☆☆☆☆ Found in Text Mining only
Usher syndrome, type 1A	Usher Syndrome	BEFREE	12588794, 17896313, 22219650, 25255398		★☆☆☆☆ Found in Text Mining only
Usher syndrome, type 1A	Usher Syndrome	GENOMICS_ENGLAND_DG	21436032		★☆☆☆☆ Found in Text Mining only
Usher syndrome, type 1B	Usher Syndrome	BEFREE	15660226		★☆☆☆☆ Found in Text Mining only
Usher Syndrome, Type I	Usher Syndrome	CLINVAR_DG	11941484, 12588794, 21569298		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Usher Syndrome, Type I	Usher Syndrome	CLINGEN_DG	11941484, 12588794, 17923142, 21436032, 22381527, 24608321, 25798947, 26936824, 27583663		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Usher Syndrome, Type I	Usher Syndrome	BEFREE	12588794, 16679490, 17896313, 22219650, 25255398		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY	Usher Syndrome	CLINGEN_DG	11941484, 12588794, 17923142, 21436032, 22381527, 24608321, 25798947, 26936824, 27583663		★☆☆☆☆ Found in Text Mining only
USHER SYNDROME, TYPE IA, FORMERLY	Usher Syndrome	CLINGEN_DG	11941484, 12588794, 17923142, 21436032, 22381527, 24608321, 25798947, 26936824, 27583663		★☆☆☆☆ Found in Text Mining only
USHER SYNDROME, TYPE IB (disorder)	Usher Syndrome	CLINGEN_DG	11941484, 12588794, 17923142, 21436032, 22381527, 24608321, 25798947, 26936824, 27583663		★☆☆☆☆ Found in Text Mining only
USHER SYNDROME, TYPE IG	Usher Syndrome	UNIPROT_DG	12588794, 16283141, 20142502		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
USHER SYNDROME, TYPE IG	Usher Syndrome	GENOMICS_ENGLAND_DG	24608321		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
USHER SYNDROME, TYPE IG	Usher Syndrome	BEFREE	25255398, 28031293		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
USHER SYNDROME, TYPE IG	Usher Syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
USHER SYNDROME, TYPE IG	Usher Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Usher Syndromes	Usher syndrome	Pubtator	22219650, 22876113, 25404053, 25575603, 25798947, 27583663, 34023904, 38139438	Associate	★☆☆☆☆ Found in Text Mining only