VPS37A (VPS37A subunit of ESCRT-I)

Gene

• Entrez ID: 137492
• Gene name: VPS37A subunit of ESCRT-I
• Gene symbol: VPS37A
• Synonyms (NCBI Gene): HCRP1, PQBP2, SPG53
• Chromosome: 8
• Chromosome location: 8p22
• Summary: This gene belongs to the VPS37 family, and encodes a component of the ESCRT-I (endosomal sorting complex required for transport I) protein complex, required for the sorting of ubiquitinated transmembrane proteins into internal vesicles of multivesicular b

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs150912414	C>A	Pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs211694394	A>G,T	Pathogenic	Non coding transcript variant, missense variant, synonymous variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019385	hsa-miR-148b-3p	Microarray	17612493
MIRT050734	hsa-miR-18a-5p	CLASH	23622248
MIRT651680	hsa-miR-7109-3p	HITS-CLIP	23824327
MIRT651681	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT651679	hsa-miR-483-3p	HITS-CLIP	23824327
MIRT651678	hsa-miR-6777-3p	HITS-CLIP	23824327
MIRT552917	hsa-miR-371b-5p	HITS-CLIP	23824327
MIRT552916	hsa-miR-373-5p	HITS-CLIP	23824327
MIRT552915	hsa-miR-616-5p	HITS-CLIP	23824327
MIRT552919	hsa-miR-371a-5p	HITS-CLIP	23824327
MIRT552914	hsa-miR-372-5p	HITS-CLIP	23824327
MIRT651677	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT651676	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT651675	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT651674	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT651680	hsa-miR-7109-3p	HITS-CLIP	23824327
MIRT651681	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT651679	hsa-miR-483-3p	HITS-CLIP	23824327
MIRT651678	hsa-miR-6777-3p	HITS-CLIP	23824327
MIRT552917	hsa-miR-371b-5p	HITS-CLIP	23824327
MIRT552916	hsa-miR-373-5p	HITS-CLIP	23824327
MIRT552915	hsa-miR-616-5p	HITS-CLIP	23824327
MIRT552919	hsa-miR-371a-5p	HITS-CLIP	23824327
MIRT552914	hsa-miR-372-5p	HITS-CLIP	23824327
MIRT651677	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT651676	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT651675	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT651674	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT552919	hsa-miR-371a-5p	PAR-CLIP	21572407
MIRT105313	hsa-miR-454-3p	PAR-CLIP	21572407
MIRT105305	hsa-miR-130a-3p	PAR-CLIP	21572407
MIRT105307	hsa-miR-301a-3p	PAR-CLIP	21572407
MIRT105314	hsa-miR-301b-3p	PAR-CLIP	21572407
MIRT105320	hsa-miR-3666	PAR-CLIP	21572407
MIRT105308	hsa-miR-130b-3p	PAR-CLIP	21572407
MIRT105317	hsa-miR-4295	PAR-CLIP	21572407
MIRT105302	hsa-miR-19a-3p	PAR-CLIP	21572407
MIRT105303	hsa-miR-19b-3p	PAR-CLIP	21572407
MIRT105318	hsa-miR-4282	PAR-CLIP	21572407
MIRT552918	hsa-miR-205-3p	PAR-CLIP	21572407
MIRT105304	hsa-miR-148a-3p	PAR-CLIP	21572407
MIRT019385	hsa-miR-148b-3p	PAR-CLIP	21572407
MIRT105306	hsa-miR-152-3p	PAR-CLIP	21572407
MIRT552917	hsa-miR-371b-5p	PAR-CLIP	21572407
MIRT552916	hsa-miR-373-5p	PAR-CLIP	21572407
MIRT552915	hsa-miR-616-5p	PAR-CLIP	21572407
MIRT552914	hsa-miR-372-5p	PAR-CLIP	21572407
MIRT552913	hsa-miR-298	PAR-CLIP	21572407
MIRT105321	hsa-miR-4671-3p	PAR-CLIP	21572407
MIRT552912	hsa-miR-4276	PAR-CLIP	21572407
MIRT552911	hsa-miR-513c-5p	PAR-CLIP	21572407
MIRT552910	hsa-miR-514b-5p	PAR-CLIP	21572407
MIRT552909	hsa-miR-30a-3p	PAR-CLIP	21572407
MIRT552908	hsa-miR-30d-3p	PAR-CLIP	21572407
MIRT552907	hsa-miR-30e-3p	PAR-CLIP	21572407
MIRT651680	hsa-miR-7109-3p	HITS-CLIP	23824327
MIRT651681	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT651679	hsa-miR-483-3p	HITS-CLIP	23824327
MIRT651678	hsa-miR-6777-3p	HITS-CLIP	23824327
MIRT552917	hsa-miR-371b-5p	HITS-CLIP	23824327
MIRT552916	hsa-miR-373-5p	HITS-CLIP	23824327
MIRT552915	hsa-miR-616-5p	HITS-CLIP	23824327
MIRT552919	hsa-miR-371a-5p	HITS-CLIP	23824327
MIRT552914	hsa-miR-372-5p	HITS-CLIP	23824327
MIRT651677	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT651676	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT651675	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT651674	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT651680	hsa-miR-7109-3p	HITS-CLIP	23824327
MIRT651681	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT651679	hsa-miR-483-3p	HITS-CLIP	23824327
MIRT651678	hsa-miR-6777-3p	HITS-CLIP	23824327
MIRT552917	hsa-miR-371b-5p	HITS-CLIP	23824327
MIRT552916	hsa-miR-373-5p	HITS-CLIP	23824327
MIRT552915	hsa-miR-616-5p	HITS-CLIP	23824327
MIRT552919	hsa-miR-371a-5p	HITS-CLIP	23824327
MIRT552914	hsa-miR-372-5p	HITS-CLIP	23824327
MIRT651677	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT651676	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT651675	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT651674	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT552919	hsa-miR-371a-5p	PAR-CLIP	21572407
MIRT105313	hsa-miR-454-3p	PAR-CLIP	21572407
MIRT105305	hsa-miR-130a-3p	PAR-CLIP	21572407
MIRT105307	hsa-miR-301a-3p	PAR-CLIP	21572407
MIRT105314	hsa-miR-301b-3p	PAR-CLIP	21572407
MIRT105320	hsa-miR-3666	PAR-CLIP	21572407
MIRT105308	hsa-miR-130b-3p	PAR-CLIP	21572407
MIRT105317	hsa-miR-4295	PAR-CLIP	21572407
MIRT105302	hsa-miR-19a-3p	PAR-CLIP	21572407
MIRT105303	hsa-miR-19b-3p	PAR-CLIP	21572407
MIRT105318	hsa-miR-4282	PAR-CLIP	21572407
MIRT552918	hsa-miR-205-3p	PAR-CLIP	21572407
MIRT105304	hsa-miR-148a-3p	PAR-CLIP	21572407
MIRT019385	hsa-miR-148b-3p	PAR-CLIP	21572407
MIRT105306	hsa-miR-152-3p	PAR-CLIP	21572407
MIRT552917	hsa-miR-371b-5p	PAR-CLIP	21572407
MIRT552916	hsa-miR-373-5p	PAR-CLIP	21572407
MIRT552915	hsa-miR-616-5p	PAR-CLIP	21572407
MIRT552914	hsa-miR-372-5p	PAR-CLIP	21572407
MIRT552913	hsa-miR-298	PAR-CLIP	21572407
MIRT105321	hsa-miR-4671-3p	PAR-CLIP	21572407
MIRT552912	hsa-miR-4276	PAR-CLIP	21572407
MIRT552911	hsa-miR-513c-5p	PAR-CLIP	21572407
MIRT552910	hsa-miR-514b-5p	PAR-CLIP	21572407
MIRT552909	hsa-miR-30a-3p	PAR-CLIP	21572407
MIRT552908	hsa-miR-30d-3p	PAR-CLIP	21572407
MIRT552907	hsa-miR-30e-3p	PAR-CLIP	21572407
MIRT1486670	hsa-miR-103b	CLIP-seq
MIRT1486671	hsa-miR-1273f	CLIP-seq
MIRT1486672	hsa-miR-130a	CLIP-seq
MIRT1486673	hsa-miR-130b	CLIP-seq
MIRT1486674	hsa-miR-143	CLIP-seq
MIRT1486675	hsa-miR-148a	CLIP-seq
MIRT1486676	hsa-miR-148b	CLIP-seq
MIRT1486677	hsa-miR-152	CLIP-seq
MIRT1486678	hsa-miR-154	CLIP-seq
MIRT1486679	hsa-miR-183	CLIP-seq
MIRT1486680	hsa-miR-194	CLIP-seq
MIRT1486681	hsa-miR-19a	CLIP-seq
MIRT1486682	hsa-miR-19b	CLIP-seq
MIRT1486683	hsa-miR-203	CLIP-seq
MIRT1486684	hsa-miR-2052	CLIP-seq
MIRT1486685	hsa-miR-2113	CLIP-seq
MIRT1486686	hsa-miR-2114	CLIP-seq
MIRT1486687	hsa-miR-2682	CLIP-seq
MIRT1486688	hsa-miR-300	CLIP-seq
MIRT1486689	hsa-miR-301a	CLIP-seq
MIRT1486690	hsa-miR-301b	CLIP-seq
MIRT1486691	hsa-miR-3074-3p	CLIP-seq
MIRT1486692	hsa-miR-3147	CLIP-seq
MIRT1486693	hsa-miR-3163	CLIP-seq
MIRT1486694	hsa-miR-3610	CLIP-seq
MIRT1486695	hsa-miR-361-5p	CLIP-seq
MIRT1486696	hsa-miR-3686	CLIP-seq
MIRT1486697	hsa-miR-371-5p	CLIP-seq
MIRT1486698	hsa-miR-381	CLIP-seq
MIRT1486699	hsa-miR-3908	CLIP-seq
MIRT1486700	hsa-miR-3914	CLIP-seq
MIRT1486701	hsa-miR-3942-5p	CLIP-seq
MIRT1486702	hsa-miR-4252	CLIP-seq
MIRT1486703	hsa-miR-4264	CLIP-seq
MIRT1486704	hsa-miR-4277	CLIP-seq
MIRT1486705	hsa-miR-4290	CLIP-seq
MIRT1486706	hsa-miR-4307	CLIP-seq
MIRT1486707	hsa-miR-4425	CLIP-seq
MIRT1486708	hsa-miR-4464	CLIP-seq
MIRT1486709	hsa-miR-449c	CLIP-seq
MIRT1486710	hsa-miR-4502	CLIP-seq
MIRT1486711	hsa-miR-4503	CLIP-seq
MIRT1486712	hsa-miR-450b-5p	CLIP-seq
MIRT1486713	hsa-miR-454	CLIP-seq
MIRT1486714	hsa-miR-4540	CLIP-seq
MIRT1486715	hsa-miR-4662a-5p	CLIP-seq
MIRT1486716	hsa-miR-4666-3p	CLIP-seq
MIRT1486717	hsa-miR-4694-5p	CLIP-seq
MIRT1486718	hsa-miR-4703-5p	CLIP-seq
MIRT1486719	hsa-miR-4708-5p	CLIP-seq
MIRT1486720	hsa-miR-4736	CLIP-seq
MIRT1486721	hsa-miR-4742-3p	CLIP-seq
MIRT1486722	hsa-miR-4747-5p	CLIP-seq
MIRT1486723	hsa-miR-4748	CLIP-seq
MIRT1486724	hsa-miR-4766-3p	CLIP-seq
MIRT1486725	hsa-miR-4770	CLIP-seq
MIRT1486726	hsa-miR-4775	CLIP-seq
MIRT1486727	hsa-miR-4790-3p	CLIP-seq
MIRT1486728	hsa-miR-4797-3p	CLIP-seq
MIRT1486729	hsa-miR-487a	CLIP-seq
MIRT1486730	hsa-miR-491-3p	CLIP-seq
MIRT1486731	hsa-miR-495	CLIP-seq
MIRT1486732	hsa-miR-513a-3p	CLIP-seq
MIRT1486733	hsa-miR-513c	CLIP-seq
MIRT1486734	hsa-miR-518a-5p	CLIP-seq
MIRT1486735	hsa-miR-527	CLIP-seq
MIRT1486736	hsa-miR-548p	CLIP-seq
MIRT1486737	hsa-miR-576-5p	CLIP-seq
MIRT1486738	hsa-miR-586	CLIP-seq
MIRT1486739	hsa-miR-587	CLIP-seq
MIRT1486740	hsa-miR-590-3p	CLIP-seq
MIRT1486741	hsa-miR-619	CLIP-seq
MIRT1486742	hsa-miR-622	CLIP-seq
MIRT1486743	hsa-miR-624	CLIP-seq
MIRT1486744	hsa-miR-657	CLIP-seq
MIRT1486745	hsa-miR-659	CLIP-seq
MIRT1486746	hsa-miR-7	CLIP-seq
MIRT1486747	hsa-miR-758	CLIP-seq
MIRT1486748	hsa-miR-759	CLIP-seq
MIRT1486749	hsa-miR-940	CLIP-seq
MIRT1486672	hsa-miR-130a	CLIP-seq
MIRT1486673	hsa-miR-130b	CLIP-seq
MIRT1486750	hsa-miR-138	CLIP-seq
MIRT1486751	hsa-miR-141	CLIP-seq
MIRT1486675	hsa-miR-148a	CLIP-seq
MIRT1486676	hsa-miR-148b	CLIP-seq
MIRT1486677	hsa-miR-152	CLIP-seq
MIRT1486681	hsa-miR-19a	CLIP-seq
MIRT1486682	hsa-miR-19b	CLIP-seq
MIRT1486752	hsa-miR-200a	CLIP-seq
MIRT1486688	hsa-miR-300	CLIP-seq
MIRT1486689	hsa-miR-301a	CLIP-seq
MIRT1486690	hsa-miR-301b	CLIP-seq
MIRT1486753	hsa-miR-3065-5p	CLIP-seq
MIRT1486692	hsa-miR-3147	CLIP-seq
MIRT1486694	hsa-miR-3610	CLIP-seq
MIRT1486754	hsa-miR-3685	CLIP-seq
MIRT1486696	hsa-miR-3686	CLIP-seq
MIRT1486698	hsa-miR-381	CLIP-seq
MIRT1486755	hsa-miR-384	CLIP-seq
MIRT1486703	hsa-miR-4264	CLIP-seq
MIRT1486704	hsa-miR-4277	CLIP-seq
MIRT1486756	hsa-miR-4420	CLIP-seq
MIRT1486707	hsa-miR-4425	CLIP-seq
MIRT1486713	hsa-miR-454	CLIP-seq
MIRT1486716	hsa-miR-4666-3p	CLIP-seq
MIRT1486717	hsa-miR-4694-5p	CLIP-seq
MIRT1486757	hsa-miR-4728-3p	CLIP-seq
MIRT1486721	hsa-miR-4742-3p	CLIP-seq
MIRT1486722	hsa-miR-4747-5p	CLIP-seq
MIRT1486728	hsa-miR-4797-3p	CLIP-seq
MIRT1486737	hsa-miR-576-5p	CLIP-seq
MIRT1486742	hsa-miR-622	CLIP-seq
MIRT1486746	hsa-miR-7	CLIP-seq
MIRT2146355	hsa-miR-1206	CLIP-seq
MIRT2146356	hsa-miR-1283	CLIP-seq
MIRT1486672	hsa-miR-130a	CLIP-seq
MIRT1486673	hsa-miR-130b	CLIP-seq
MIRT1486679	hsa-miR-183	CLIP-seq
MIRT1486683	hsa-miR-203	CLIP-seq
MIRT1486684	hsa-miR-2052	CLIP-seq
MIRT2146357	hsa-miR-2054	CLIP-seq
MIRT1486685	hsa-miR-2113	CLIP-seq
MIRT2146358	hsa-miR-221	CLIP-seq
MIRT2146359	hsa-miR-222	CLIP-seq
MIRT1486688	hsa-miR-300	CLIP-seq
MIRT1486689	hsa-miR-301a	CLIP-seq
MIRT1486690	hsa-miR-301b	CLIP-seq
MIRT1486693	hsa-miR-3163	CLIP-seq
MIRT2146360	hsa-miR-3183	CLIP-seq
MIRT2146361	hsa-miR-3202	CLIP-seq
MIRT2146362	hsa-miR-325	CLIP-seq
MIRT2146363	hsa-miR-34a	CLIP-seq
MIRT2146364	hsa-miR-34c-5p	CLIP-seq
MIRT1486694	hsa-miR-3610	CLIP-seq
MIRT2146365	hsa-miR-3647-3p	CLIP-seq
MIRT2146366	hsa-miR-3657	CLIP-seq
MIRT2146367	hsa-miR-3682-3p	CLIP-seq
MIRT1486754	hsa-miR-3685	CLIP-seq
MIRT1486696	hsa-miR-3686	CLIP-seq
MIRT2146368	hsa-miR-376c	CLIP-seq
MIRT1486698	hsa-miR-381	CLIP-seq
MIRT1486755	hsa-miR-384	CLIP-seq
MIRT1486699	hsa-miR-3908	CLIP-seq
MIRT1486701	hsa-miR-3942-5p	CLIP-seq
MIRT1486702	hsa-miR-4252	CLIP-seq
MIRT1486703	hsa-miR-4264	CLIP-seq
MIRT2146369	hsa-miR-4272	CLIP-seq
MIRT1486704	hsa-miR-4277	CLIP-seq
MIRT2146370	hsa-miR-4293	CLIP-seq
MIRT2146371	hsa-miR-449a	CLIP-seq
MIRT2146372	hsa-miR-449b	CLIP-seq
MIRT1486710	hsa-miR-4502	CLIP-seq
MIRT2146373	hsa-miR-4517	CLIP-seq
MIRT2146374	hsa-miR-4533	CLIP-seq
MIRT1486713	hsa-miR-454	CLIP-seq
MIRT1486715	hsa-miR-4662a-5p	CLIP-seq
MIRT1486716	hsa-miR-4666-3p	CLIP-seq
MIRT2146375	hsa-miR-4669	CLIP-seq
MIRT2146376	hsa-miR-4677-3p	CLIP-seq
MIRT2146377	hsa-miR-4679	CLIP-seq
MIRT1486718	hsa-miR-4703-5p	CLIP-seq
MIRT2146378	hsa-miR-4723-3p	CLIP-seq
MIRT1486721	hsa-miR-4742-3p	CLIP-seq
MIRT2146379	hsa-miR-4760-5p	CLIP-seq
MIRT1486724	hsa-miR-4766-3p	CLIP-seq
MIRT1486728	hsa-miR-4797-3p	CLIP-seq
MIRT1486734	hsa-miR-518a-5p	CLIP-seq
MIRT1486735	hsa-miR-527	CLIP-seq
MIRT2146380	hsa-miR-548u	CLIP-seq
MIRT1486737	hsa-miR-576-5p	CLIP-seq
MIRT2146381	hsa-miR-592	CLIP-seq
MIRT2146382	hsa-miR-599	CLIP-seq
MIRT2146383	hsa-miR-610	CLIP-seq
MIRT1486742	hsa-miR-622	CLIP-seq
MIRT1486745	hsa-miR-659	CLIP-seq
MIRT2146384	hsa-miR-935	CLIP-seq
MIRT2366863	hsa-miR-1257	CLIP-seq
MIRT1486672	hsa-miR-130a	CLIP-seq
MIRT1486673	hsa-miR-130b	CLIP-seq
MIRT1486675	hsa-miR-148a	CLIP-seq
MIRT1486676	hsa-miR-148b	CLIP-seq
MIRT1486677	hsa-miR-152	CLIP-seq
MIRT1486681	hsa-miR-19a	CLIP-seq
MIRT1486682	hsa-miR-19b	CLIP-seq
MIRT1486688	hsa-miR-300	CLIP-seq
MIRT1486689	hsa-miR-301a	CLIP-seq
MIRT1486690	hsa-miR-301b	CLIP-seq
MIRT2146362	hsa-miR-325	CLIP-seq
MIRT1486696	hsa-miR-3686	CLIP-seq
MIRT2366864	hsa-miR-3692	CLIP-seq
MIRT1486698	hsa-miR-381	CLIP-seq
MIRT1486755	hsa-miR-384	CLIP-seq
MIRT2366865	hsa-miR-3935	CLIP-seq
MIRT1486703	hsa-miR-4264	CLIP-seq
MIRT1486704	hsa-miR-4277	CLIP-seq
MIRT2366866	hsa-miR-4528	CLIP-seq
MIRT1486713	hsa-miR-454	CLIP-seq
MIRT1486716	hsa-miR-4666-3p	CLIP-seq
MIRT2146376	hsa-miR-4677-3p	CLIP-seq
MIRT2146377	hsa-miR-4679	CLIP-seq
MIRT1486721	hsa-miR-4742-3p	CLIP-seq
MIRT1486728	hsa-miR-4797-3p	CLIP-seq
MIRT2366867	hsa-miR-577	CLIP-seq
MIRT1486742	hsa-miR-622	CLIP-seq
MIRT1486716	hsa-miR-4666-3p	CLIP-seq
MIRT2463288	hsa-miR-2116	CLIP-seq
MIRT2463289	hsa-miR-375	CLIP-seq
MIRT2463290	hsa-miR-4273	CLIP-seq
MIRT2463291	hsa-miR-4677-5p	CLIP-seq
MIRT1486726	hsa-miR-4775	CLIP-seq
MIRT1486731	hsa-miR-495	CLIP-seq
MIRT1486740	hsa-miR-590-3p	CLIP-seq
MIRT2463292	hsa-miR-873	CLIP-seq
MIRT2463292	hsa-miR-873	CLIP-seq
MIRT1486670	hsa-miR-103b	CLIP-seq
MIRT1486672	hsa-miR-130a	CLIP-seq
MIRT1486673	hsa-miR-130b	CLIP-seq
MIRT1486751	hsa-miR-141	CLIP-seq
MIRT1486675	hsa-miR-148a	CLIP-seq
MIRT1486676	hsa-miR-148b	CLIP-seq
MIRT1486677	hsa-miR-152	CLIP-seq
MIRT1486680	hsa-miR-194	CLIP-seq
MIRT1486681	hsa-miR-19a	CLIP-seq
MIRT1486682	hsa-miR-19b	CLIP-seq
MIRT1486752	hsa-miR-200a	CLIP-seq
MIRT1486689	hsa-miR-301a	CLIP-seq
MIRT1486690	hsa-miR-301b	CLIP-seq
MIRT2660501	hsa-miR-302f	CLIP-seq
MIRT1486753	hsa-miR-3065-5p	CLIP-seq
MIRT2660502	hsa-miR-3140-3p	CLIP-seq
MIRT2660503	hsa-miR-3194-3p	CLIP-seq
MIRT2146365	hsa-miR-3647-3p	CLIP-seq
MIRT2660504	hsa-miR-3658	CLIP-seq
MIRT1486697	hsa-miR-371-5p	CLIP-seq
MIRT2660505	hsa-miR-374a	CLIP-seq
MIRT2660506	hsa-miR-374b	CLIP-seq
MIRT2660507	hsa-miR-380	CLIP-seq
MIRT1486699	hsa-miR-3908	CLIP-seq
MIRT2660508	hsa-miR-3924	CLIP-seq
MIRT1486701	hsa-miR-3942-5p	CLIP-seq
MIRT2660509	hsa-miR-4495	CLIP-seq
MIRT2366866	hsa-miR-4528	CLIP-seq
MIRT1486713	hsa-miR-454	CLIP-seq
MIRT1486716	hsa-miR-4666-3p	CLIP-seq
MIRT1486718	hsa-miR-4703-5p	CLIP-seq
MIRT1486724	hsa-miR-4766-3p	CLIP-seq
MIRT2660510	hsa-miR-488	CLIP-seq
MIRT1486732	hsa-miR-513a-3p	CLIP-seq
MIRT1486733	hsa-miR-513c	CLIP-seq
MIRT2660511	hsa-miR-561	CLIP-seq
MIRT1486737	hsa-miR-576-5p	CLIP-seq
MIRT1486672	hsa-miR-130a	CLIP-seq
MIRT1486673	hsa-miR-130b	CLIP-seq
MIRT1486689	hsa-miR-301a	CLIP-seq
MIRT1486690	hsa-miR-301b	CLIP-seq
MIRT2146365	hsa-miR-3647-3p	CLIP-seq
MIRT1486713	hsa-miR-454	CLIP-seq
MIRT1486672	hsa-miR-130a	CLIP-seq
MIRT1486673	hsa-miR-130b	CLIP-seq
MIRT1486689	hsa-miR-301a	CLIP-seq
MIRT1486690	hsa-miR-301b	CLIP-seq
MIRT1486713	hsa-miR-454	CLIP-seq
MIRT1486751	hsa-miR-141	CLIP-seq
MIRT1486752	hsa-miR-200a	CLIP-seq
MIRT2660501	hsa-miR-302f	CLIP-seq
MIRT2660502	hsa-miR-3140-3p	CLIP-seq
MIRT2660503	hsa-miR-3194-3p	CLIP-seq
MIRT2695070	hsa-miR-4462	CLIP-seq
MIRT2660510	hsa-miR-488	CLIP-seq
MIRT2660511	hsa-miR-561	CLIP-seq
MIRT2695071	hsa-miR-767-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000813	Component	ESCRT I complex	IBA
GO:0000813	Component	ESCRT I complex	IDA	18005716, 20654576, 21757351
GO:0000813	Component	ESCRT I complex	IEA
GO:0000813	Component	ESCRT I complex	IPI	18005716, 21757351
GO:0000813	Component	ESCRT I complex	ISS
GO:0000813	Component	ESCRT I complex	TAS	20588296
GO:0005515	Function	Protein binding	IPI	25416956, 32296183, 32814053, 33961781, 35271311
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005768	Component	Endosome	IEA
GO:0005813	Component	Centrosome	IDA
GO:0005829	Component	Cytosol	IDA
GO:0006612	Process	Protein targeting to membrane	IBA
GO:0006623	Process	Protein targeting to vacuole	IBA
GO:0010008	Component	Endosome membrane	NAS	32424346
GO:0010008	Component	Endosome membrane	TAS
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016236	Process	Macroautophagy	IEA
GO:0016236	Process	Macroautophagy	TAS	20588296
GO:0031902	Component	Late endosome membrane	IEA
GO:0036258	Process	Multivesicular body assembly	IEA
GO:0036258	Process	Multivesicular body assembly	NAS	32424346
GO:0036258	Process	Multivesicular body assembly	TAS	20588296
GO:0039702	Process	Viral budding via host ESCRT complex	IEA
GO:0039702	Process	Viral budding via host ESCRT complex	TAS	20588296
GO:0043162	Process	Ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	IBA
GO:0043162	Process	Ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	IC	20654576
GO:0043162	Process	Ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	IMP	21757351
GO:0043328	Process	Protein transport to vacuole involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	NAS	32424346
GO:0090148	Process	Membrane fission	NAS	32424346

Other IDs

• MIM: 609927
• HGNC: 24928
• e!Ensembl: ENSG00000155975

Protein

• UniProt ID: Q8NEZ2
• Protein name: Vacuolar protein sorting-associated protein 37A (hVps37A) (ESCRT-I complex subunit VPS37A) (Hepatocellular carcinoma-related protein 1)
• Protein function: Component of the ESCRT-I complex, a regulator of vesicular trafficking process. Required for the sorting of endocytic ubiquitinated cargos into multivesicular bodies. May be involved in cell growth and differentiation. {ECO:0000269|PubMed:152408
• PDB: 8E22
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07200	Mod_r	235 → 380	Modifier of rudimentary (Mod(r)) protein	Domain

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. Examined tissues include heart, brain, placenta, liver, skeletal muscle, kidney and pancreas. More abundant in liver. Strongly decreased or undetected in hepatomas. {ECO:0000269|PubMed:14623289, ECO:0000269|PubMed:227
• Sequence:

  MSWLFPLTKSASSSAAGSPGGLTSLQQQKQRLIESLRNSHSSIAEIQKDVEYRLPFTINN
  LTININILLPPQFPQEKPVISVYPPIRHHLMDKQGVYVTSPLVNNFTMHSDLGKIIQSLL
  DEFWKNPPVLAPTSTAFPYLYSNPSGMSPYASQGFPFLPPYPPQEANRSITSLSVADTVS
  SSTTSHTTAKPAAPSFGVLSNLPLPIPTVDASIPTSQNGFGYKMPDVPDAFPELSELSVS
  QLTDMNEQEEVLLEQFLTLPQLKQIITDKDDLVKSIEELARKNLLLEPSLEAKRQTVLDK
  YELLTQMKSTFEKKMQRQHELSESCSASALQARLKVAAHEAEEESDNIAEDFLEGKMEID
  DFLSSFMEKRTICHCRRAKEEKLQQAIAMHSQFHAPL

• Sequence length: 397

Pathways

KEGG:

Endocytosis

Reactome:

Budding and maturation of HIV virion
Membrane binding and targetting of GAG proteins
Endosomal Sorting Complex Required For Transport (ESCRT)
HCMV Late Events

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
Hereditary spastic paraplegia 53	Pathogenic	rs211694394	RCV000032956	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 53	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX HEREDITARY SPASTIC PARAPLEGIA	—	ClinGen, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary spastic paraplegia	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic transverse myelitis	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARAPLEGIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA, HEREDITARY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VPS37A-related disorder	Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Autosomal recessive spastic paraplegia type 53	Spastic Paraplegia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	BEFREE	28122307		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	25550832	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	26304749	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	22016507, 28122307		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	28122307		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	33757599	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	30518879		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	30518879		★☆☆☆☆ Found in Text Mining only
Congenital pectus carinatum	Congenital Pectus Carinatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cortical Dysplasia	Cortical Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	36465646	Inhibit	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	28826094		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	33197651	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrichosis	HYPERTRICHOSIS	HPO_DG			★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	14623289, 28122307, 28350062		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	28122307		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	31929761	Inhibit	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	28122307		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of oropharynx	Malignant Neoplasm Of Oropharynx	BEFREE	22891969		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	22016507, 28122307		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	28458158, 29416742		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	25738530		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28122307, 30518879, 31152734		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	30518879		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease, Upper	Motor Neuron Disease	BEFREE	22717650		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	22016507, 28122307, 28458158, 30518879, 31152734		★☆☆☆☆ Found in Text Mining only
Oropharyngeal Carcinoma	Oropharyngeal Carcinoma	BEFREE	22891969		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	22016507, 28122307		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	28458158, 29416742		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	31929761	Associate	★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE	Spastic Paraplegia	UNIPROT_DG	22717650		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE	Spastic Paraplegia	ORPHANET_DG	22717650		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE	Spastic Paraplegia	GENOMICS_ENGLAND_DG	22717650		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE	Spastic Paraplegia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE	Spastic Paraplegia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	31152734		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of oropharynx	Oropharyngeal carcinoma	BEFREE	22891969		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	25738530		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	25550832	Inhibit	★☆☆☆☆ Found in Text Mining only