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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	5119
Gene name	Charged multivesicular body protein 1A
Gene symbol	CHMP1A
Synonyms (NCBI Gene)	CHMP1PCH8PCOLN3PRSM1VPS46-1VPS46A
Chromosome	16
Chromosome location	16q24.3
Summary	This gene encodes a member of the CHMP/Chmp family of proteins which are involved in multivesicular body sorting of proteins to the interiors of lysosomes. The initial prediction of the protein sequence encoded by this gene suggested that the encoded prot

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SNP ID	Visualize variation	Clinical significance	Consequence
rs114931496	G>A	Benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant, missense variant
rs200606123	G>A,T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, stop gained, coding sequence variant, synonymous variant
rs201479143	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant, synonymous variant
rs397515426	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained, missense variant
rs398122918	C>A,T	Pathogenic	Intron variant
rs764358419	G>A,T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant, synonymous variant
rs1064794609	C>A,G,T	Uncertain-significance, pathogenic	Genic downstream transcript variant, non coding transcript variant, downstream transcript variant, stop gained, coding sequence variant, missense variant

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miRTarBase ID	miRNA	Experiments
MIRT890440	hsa-miR-103a	CLIP-seq
MIRT890441	hsa-miR-107	CLIP-seq
MIRT890442	hsa-miR-1179	CLIP-seq
MIRT890443	hsa-miR-1200	CLIP-seq
MIRT890444	hsa-miR-1207-5p	CLIP-seq
MIRT890445	hsa-miR-1238	CLIP-seq
MIRT890446	hsa-miR-124	CLIP-seq
MIRT890447	hsa-miR-1257	CLIP-seq
MIRT890448	hsa-miR-1266	CLIP-seq
MIRT890449	hsa-miR-1269	CLIP-seq
MIRT890450	hsa-miR-1269b	CLIP-seq
MIRT890451	hsa-miR-1271	CLIP-seq
MIRT890452	hsa-miR-1285	CLIP-seq
MIRT890453	hsa-miR-1286	CLIP-seq
MIRT890454	hsa-miR-1288	CLIP-seq
MIRT890455	hsa-miR-1292	CLIP-seq
MIRT890456	hsa-miR-148a	CLIP-seq
MIRT890457	hsa-miR-148b	CLIP-seq
MIRT890458	hsa-miR-151-5p	CLIP-seq
MIRT890459	hsa-miR-151b	CLIP-seq
MIRT890460	hsa-miR-152	CLIP-seq
MIRT890461	hsa-miR-15a	CLIP-seq
MIRT890462	hsa-miR-15b	CLIP-seq
MIRT890463	hsa-miR-16	CLIP-seq
MIRT890464	hsa-miR-182	CLIP-seq
MIRT890465	hsa-miR-1908	CLIP-seq
MIRT890466	hsa-miR-195	CLIP-seq
MIRT890467	hsa-miR-1976	CLIP-seq
MIRT890468	hsa-miR-296-5p	CLIP-seq
MIRT890469	hsa-miR-3122	CLIP-seq
MIRT890470	hsa-miR-3126-5p	CLIP-seq
MIRT890471	hsa-miR-3131	CLIP-seq
MIRT890472	hsa-miR-3144-5p	CLIP-seq
MIRT890473	hsa-miR-3150b-3p	CLIP-seq
MIRT890474	hsa-miR-3155	CLIP-seq
MIRT890475	hsa-miR-3155b	CLIP-seq
MIRT890476	hsa-miR-3169	CLIP-seq
MIRT890477	hsa-miR-3180	CLIP-seq
MIRT890478	hsa-miR-3180-3p	CLIP-seq
MIRT890479	hsa-miR-3184	CLIP-seq
MIRT890480	hsa-miR-3187-5p	CLIP-seq
MIRT890481	hsa-miR-3196	CLIP-seq
MIRT890482	hsa-miR-339-5p	CLIP-seq
MIRT890483	hsa-miR-346	CLIP-seq
MIRT890484	hsa-miR-3529	CLIP-seq
MIRT890485	hsa-miR-3616-3p	CLIP-seq
MIRT890486	hsa-miR-3649	CLIP-seq
MIRT890487	hsa-miR-3670	CLIP-seq
MIRT890488	hsa-miR-371b-3p	CLIP-seq
MIRT890489	hsa-miR-379	CLIP-seq
MIRT890490	hsa-miR-3913-5p	CLIP-seq
MIRT890491	hsa-miR-3926	CLIP-seq
MIRT890492	hsa-miR-423-5p	CLIP-seq
MIRT890493	hsa-miR-424	CLIP-seq
MIRT890494	hsa-miR-4270	CLIP-seq
MIRT890495	hsa-miR-4279	CLIP-seq
MIRT890496	hsa-miR-4288	CLIP-seq
MIRT890497	hsa-miR-4310	CLIP-seq
MIRT890498	hsa-miR-4323	CLIP-seq
MIRT890499	hsa-miR-4324	CLIP-seq
MIRT890500	hsa-miR-4419a	CLIP-seq
MIRT890501	hsa-miR-4436b-3p	CLIP-seq
MIRT890502	hsa-miR-4438	CLIP-seq
MIRT890503	hsa-miR-4441	CLIP-seq
MIRT890504	hsa-miR-4451	CLIP-seq
MIRT890505	hsa-miR-4466	CLIP-seq
MIRT890506	hsa-miR-4471	CLIP-seq
MIRT890507	hsa-miR-4510	CLIP-seq
MIRT890508	hsa-miR-4514	CLIP-seq
MIRT890509	hsa-miR-4515	CLIP-seq
MIRT890510	hsa-miR-4518	CLIP-seq
MIRT890511	hsa-miR-4520a-3p	CLIP-seq
MIRT890512	hsa-miR-4648	CLIP-seq
MIRT890513	hsa-miR-4650-3p	CLIP-seq
MIRT890514	hsa-miR-4685-5p	CLIP-seq
MIRT890515	hsa-miR-4689	CLIP-seq
MIRT890516	hsa-miR-4690-3p	CLIP-seq
MIRT890517	hsa-miR-4692	CLIP-seq
MIRT890518	hsa-miR-4699-3p	CLIP-seq
MIRT890519	hsa-miR-4706	CLIP-seq
MIRT890520	hsa-miR-4707-3p	CLIP-seq
MIRT890521	hsa-miR-4709-3p	CLIP-seq
MIRT890522	hsa-miR-4713-3p	CLIP-seq
MIRT890523	hsa-miR-4717-3p	CLIP-seq
MIRT890524	hsa-miR-4722-3p	CLIP-seq
MIRT890525	hsa-miR-4728-5p	CLIP-seq
MIRT890526	hsa-miR-4736	CLIP-seq
MIRT890527	hsa-miR-4740-5p	CLIP-seq
MIRT890528	hsa-miR-4747-5p	CLIP-seq
MIRT890529	hsa-miR-4749-3p	CLIP-seq
MIRT890530	hsa-miR-4749-5p	CLIP-seq
MIRT890531	hsa-miR-4763-3p	CLIP-seq
MIRT890532	hsa-miR-4765	CLIP-seq
MIRT890533	hsa-miR-4779	CLIP-seq
MIRT890534	hsa-miR-4784	CLIP-seq
MIRT890535	hsa-miR-4790-3p	CLIP-seq
MIRT890536	hsa-miR-484	CLIP-seq
MIRT890537	hsa-miR-497	CLIP-seq
MIRT890538	hsa-miR-506	CLIP-seq
MIRT890539	hsa-miR-541	CLIP-seq
MIRT890540	hsa-miR-544b	CLIP-seq
MIRT890541	hsa-miR-548an	CLIP-seq
MIRT890542	hsa-miR-548s	CLIP-seq
MIRT890543	hsa-miR-611	CLIP-seq
MIRT890544	hsa-miR-612	CLIP-seq
MIRT890545	hsa-miR-632	CLIP-seq
MIRT890546	hsa-miR-642b	CLIP-seq
MIRT890547	hsa-miR-654-3p	CLIP-seq
MIRT890548	hsa-miR-654-5p	CLIP-seq
MIRT890549	hsa-miR-657	CLIP-seq
MIRT890550	hsa-miR-658	CLIP-seq
MIRT890551	hsa-miR-663	CLIP-seq
MIRT890552	hsa-miR-663b	CLIP-seq
MIRT890553	hsa-miR-675	CLIP-seq
MIRT890554	hsa-miR-96	CLIP-seq
MIRT890440	hsa-miR-103a	CLIP-seq
MIRT890441	hsa-miR-107	CLIP-seq
MIRT1963949	hsa-miR-1184	CLIP-seq
MIRT1963950	hsa-miR-1185	CLIP-seq
MIRT1963951	hsa-miR-1205	CLIP-seq
MIRT1963952	hsa-miR-1262	CLIP-seq
MIRT890448	hsa-miR-1266	CLIP-seq
MIRT890449	hsa-miR-1269	CLIP-seq
MIRT890450	hsa-miR-1269b	CLIP-seq
MIRT890451	hsa-miR-1271	CLIP-seq
MIRT890452	hsa-miR-1285	CLIP-seq
MIRT890454	hsa-miR-1288	CLIP-seq
MIRT1963953	hsa-miR-1293	CLIP-seq
MIRT1963954	hsa-miR-1587	CLIP-seq
MIRT890464	hsa-miR-182	CLIP-seq
MIRT1963955	hsa-miR-1909	CLIP-seq
MIRT890467	hsa-miR-1976	CLIP-seq
MIRT1963956	hsa-miR-2117	CLIP-seq
MIRT1963957	hsa-miR-296-3p	CLIP-seq
MIRT890468	hsa-miR-296-5p	CLIP-seq
MIRT890480	hsa-miR-3187-5p	CLIP-seq
MIRT1963958	hsa-miR-3200-5p	CLIP-seq
MIRT1963959	hsa-miR-3591-3p	CLIP-seq
MIRT1963960	hsa-miR-3605-5p	CLIP-seq
MIRT1963961	hsa-miR-361-3p	CLIP-seq
MIRT1963962	hsa-miR-3622a-3p	CLIP-seq
MIRT1963963	hsa-miR-3622b-3p	CLIP-seq
MIRT890486	hsa-miR-3649	CLIP-seq
MIRT1963964	hsa-miR-3678-3p	CLIP-seq
MIRT1963965	hsa-miR-3679-5p	CLIP-seq
MIRT1963966	hsa-miR-3691-5p	CLIP-seq
MIRT1963967	hsa-miR-3913-3p	CLIP-seq
MIRT1963968	hsa-miR-3918	CLIP-seq
MIRT890494	hsa-miR-4270	CLIP-seq
MIRT1963969	hsa-miR-4283	CLIP-seq
MIRT1963970	hsa-miR-4308	CLIP-seq
MIRT890497	hsa-miR-4310	CLIP-seq
MIRT890498	hsa-miR-4323	CLIP-seq
MIRT1963971	hsa-miR-4418	CLIP-seq
MIRT1963972	hsa-miR-4436a	CLIP-seq
MIRT890503	hsa-miR-4441	CLIP-seq
MIRT890505	hsa-miR-4466	CLIP-seq
MIRT1963973	hsa-miR-4483	CLIP-seq
MIRT1963974	hsa-miR-4491	CLIP-seq
MIRT890509	hsa-miR-4515	CLIP-seq
MIRT890510	hsa-miR-4518	CLIP-seq
MIRT890512	hsa-miR-4648	CLIP-seq
MIRT1963975	hsa-miR-4657	CLIP-seq
MIRT1963976	hsa-miR-4682	CLIP-seq
MIRT1963977	hsa-miR-4701-3p	CLIP-seq
MIRT890520	hsa-miR-4707-3p	CLIP-seq
MIRT890524	hsa-miR-4722-3p	CLIP-seq
MIRT1963978	hsa-miR-4733-3p	CLIP-seq
MIRT890527	hsa-miR-4740-5p	CLIP-seq
MIRT890528	hsa-miR-4747-5p	CLIP-seq
MIRT890529	hsa-miR-4749-3p	CLIP-seq
MIRT1963979	hsa-miR-4752	CLIP-seq
MIRT1963980	hsa-miR-4757-5p	CLIP-seq
MIRT890532	hsa-miR-4765	CLIP-seq
MIRT1963981	hsa-miR-4768-5p	CLIP-seq
MIRT1963982	hsa-miR-489	CLIP-seq
MIRT1963983	hsa-miR-509-3-5p	CLIP-seq
MIRT1963984	hsa-miR-509-5p	CLIP-seq
MIRT890539	hsa-miR-541	CLIP-seq
MIRT1963985	hsa-miR-548aa	CLIP-seq
MIRT890544	hsa-miR-612	CLIP-seq
MIRT890548	hsa-miR-654-5p	CLIP-seq
MIRT890550	hsa-miR-658	CLIP-seq
MIRT890553	hsa-miR-675	CLIP-seq
MIRT890554	hsa-miR-96	CLIP-seq
MIRT2200118	hsa-miR-1256	CLIP-seq
MIRT2200119	hsa-miR-1827	CLIP-seq
MIRT2200120	hsa-miR-205	CLIP-seq
MIRT890532	hsa-miR-4765	CLIP-seq
MIRT2200121	hsa-miR-520a-5p	CLIP-seq
MIRT2200122	hsa-miR-525-5p	CLIP-seq
MIRT2200123	hsa-miR-646	CLIP-seq
MIRT890440	hsa-miR-103a	CLIP-seq
MIRT890441	hsa-miR-107	CLIP-seq
MIRT1963949	hsa-miR-1184	CLIP-seq
MIRT890443	hsa-miR-1200	CLIP-seq
MIRT1963951	hsa-miR-1205	CLIP-seq
MIRT2502921	hsa-miR-1207-3p	CLIP-seq
MIRT890444	hsa-miR-1207-5p	CLIP-seq
MIRT2502922	hsa-miR-1224-3p	CLIP-seq
MIRT890445	hsa-miR-1238	CLIP-seq
MIRT1963952	hsa-miR-1262	CLIP-seq
MIRT890448	hsa-miR-1266	CLIP-seq
MIRT2502923	hsa-miR-128	CLIP-seq
MIRT2502924	hsa-miR-149	CLIP-seq
MIRT1963954	hsa-miR-1587	CLIP-seq
MIRT890461	hsa-miR-15a	CLIP-seq
MIRT890462	hsa-miR-15b	CLIP-seq
MIRT890463	hsa-miR-16	CLIP-seq
MIRT2200119	hsa-miR-1827	CLIP-seq
MIRT2502925	hsa-miR-1913	CLIP-seq
MIRT890466	hsa-miR-195	CLIP-seq
MIRT890467	hsa-miR-1976	CLIP-seq
MIRT2200120	hsa-miR-205	CLIP-seq
MIRT2502926	hsa-miR-2115	CLIP-seq
MIRT1963956	hsa-miR-2117	CLIP-seq
MIRT2502927	hsa-miR-22	CLIP-seq
MIRT2502928	hsa-miR-2467-3p	CLIP-seq
MIRT2502929	hsa-miR-28-5p	CLIP-seq
MIRT890468	hsa-miR-296-5p	CLIP-seq
MIRT2502930	hsa-miR-3064-5p	CLIP-seq
MIRT2502931	hsa-miR-3130-3p	CLIP-seq
MIRT2502932	hsa-miR-3136-3p	CLIP-seq
MIRT2502933	hsa-miR-3139	CLIP-seq
MIRT2502934	hsa-miR-3158-5p	CLIP-seq
MIRT2502935	hsa-miR-3166	CLIP-seq
MIRT2502936	hsa-miR-3189-3p	CLIP-seq
MIRT2502937	hsa-miR-3189-5p	CLIP-seq
MIRT2502938	hsa-miR-3194-3p	CLIP-seq
MIRT2502939	hsa-miR-320e	CLIP-seq
MIRT2502940	hsa-miR-324-3p	CLIP-seq
MIRT890483	hsa-miR-346	CLIP-seq
MIRT1963959	hsa-miR-3591-3p	CLIP-seq
MIRT1963961	hsa-miR-361-3p	CLIP-seq
MIRT890486	hsa-miR-3649	CLIP-seq
MIRT890487	hsa-miR-3670	CLIP-seq
MIRT1963964	hsa-miR-3678-3p	CLIP-seq
MIRT2502941	hsa-miR-3684	CLIP-seq
MIRT2502942	hsa-miR-376c	CLIP-seq
MIRT1963967	hsa-miR-3913-3p	CLIP-seq
MIRT1963968	hsa-miR-3918	CLIP-seq
MIRT2502943	hsa-miR-3925-3p	CLIP-seq
MIRT890493	hsa-miR-424	CLIP-seq
MIRT890494	hsa-miR-4270	CLIP-seq
MIRT2502944	hsa-miR-4287	CLIP-seq
MIRT890496	hsa-miR-4288	CLIP-seq
MIRT2502945	hsa-miR-4312	CLIP-seq
MIRT890498	hsa-miR-4323	CLIP-seq
MIRT890499	hsa-miR-4324	CLIP-seq
MIRT890503	hsa-miR-4441	CLIP-seq
MIRT890505	hsa-miR-4466	CLIP-seq
MIRT2502946	hsa-miR-4493	CLIP-seq
MIRT2502947	hsa-miR-4497	CLIP-seq
MIRT890508	hsa-miR-4514	CLIP-seq
MIRT890510	hsa-miR-4518	CLIP-seq
MIRT890511	hsa-miR-4520a-3p	CLIP-seq
MIRT2502948	hsa-miR-4522	CLIP-seq
MIRT2502949	hsa-miR-4640-3p	CLIP-seq
MIRT2502950	hsa-miR-4641	CLIP-seq
MIRT890512	hsa-miR-4648	CLIP-seq
MIRT2502951	hsa-miR-4674	CLIP-seq
MIRT2502952	hsa-miR-4685-3p	CLIP-seq
MIRT890514	hsa-miR-4685-5p	CLIP-seq
MIRT2502953	hsa-miR-4687-3p	CLIP-seq
MIRT890516	hsa-miR-4690-3p	CLIP-seq
MIRT890517	hsa-miR-4692	CLIP-seq
MIRT1963977	hsa-miR-4701-3p	CLIP-seq
MIRT890520	hsa-miR-4707-3p	CLIP-seq
MIRT890523	hsa-miR-4717-3p	CLIP-seq
MIRT890524	hsa-miR-4722-3p	CLIP-seq
MIRT2502954	hsa-miR-4731-5p	CLIP-seq
MIRT890526	hsa-miR-4736	CLIP-seq
MIRT890528	hsa-miR-4747-5p	CLIP-seq
MIRT890529	hsa-miR-4749-3p	CLIP-seq
MIRT2502955	hsa-miR-4758-3p	CLIP-seq
MIRT890531	hsa-miR-4763-3p	CLIP-seq
MIRT1963981	hsa-miR-4768-5p	CLIP-seq
MIRT2502956	hsa-miR-4771	CLIP-seq
MIRT2502957	hsa-miR-4789-3p	CLIP-seq
MIRT2502958	hsa-miR-4793-3p	CLIP-seq
MIRT2502959	hsa-miR-4794	CLIP-seq
MIRT1963982	hsa-miR-489	CLIP-seq
MIRT890537	hsa-miR-497	CLIP-seq
MIRT2502960	hsa-miR-512-3p	CLIP-seq
MIRT890539	hsa-miR-541	CLIP-seq
MIRT890540	hsa-miR-544b	CLIP-seq
MIRT2502961	hsa-miR-558	CLIP-seq
MIRT2502962	hsa-miR-589	CLIP-seq
MIRT890545	hsa-miR-632	CLIP-seq
MIRT2502963	hsa-miR-635	CLIP-seq
MIRT890546	hsa-miR-642b	CLIP-seq
MIRT890547	hsa-miR-654-3p	CLIP-seq
MIRT890548	hsa-miR-654-5p	CLIP-seq
MIRT890549	hsa-miR-657	CLIP-seq
MIRT890550	hsa-miR-658	CLIP-seq
MIRT890553	hsa-miR-675	CLIP-seq
MIRT2502964	hsa-miR-708	CLIP-seq
MIRT2502965	hsa-miR-760	CLIP-seq
MIRT2502966	hsa-miR-765	CLIP-seq
MIRT2502967	hsa-miR-766	CLIP-seq
MIRT890451	hsa-miR-1271	CLIP-seq
MIRT890464	hsa-miR-182	CLIP-seq
MIRT890554	hsa-miR-96	CLIP-seq
MIRT890440	hsa-miR-103a	CLIP-seq
MIRT890441	hsa-miR-107	CLIP-seq
MIRT1963949	hsa-miR-1184	CLIP-seq
MIRT890443	hsa-miR-1200	CLIP-seq
MIRT1963951	hsa-miR-1205	CLIP-seq
MIRT2502921	hsa-miR-1207-3p	CLIP-seq
MIRT890444	hsa-miR-1207-5p	CLIP-seq
MIRT2502922	hsa-miR-1224-3p	CLIP-seq
MIRT890445	hsa-miR-1238	CLIP-seq
MIRT2200118	hsa-miR-1256	CLIP-seq
MIRT1963952	hsa-miR-1262	CLIP-seq
MIRT890448	hsa-miR-1266	CLIP-seq
MIRT890451	hsa-miR-1271	CLIP-seq
MIRT2502923	hsa-miR-128	CLIP-seq
MIRT2678112	hsa-miR-138	CLIP-seq
MIRT2502924	hsa-miR-149	CLIP-seq
MIRT1963954	hsa-miR-1587	CLIP-seq
MIRT890461	hsa-miR-15a	CLIP-seq
MIRT890462	hsa-miR-15b	CLIP-seq
MIRT890463	hsa-miR-16	CLIP-seq
MIRT890464	hsa-miR-182	CLIP-seq
MIRT2200119	hsa-miR-1827	CLIP-seq
MIRT2502925	hsa-miR-1913	CLIP-seq
MIRT890466	hsa-miR-195	CLIP-seq
MIRT890467	hsa-miR-1976	CLIP-seq
MIRT2200120	hsa-miR-205	CLIP-seq
MIRT2502926	hsa-miR-2115	CLIP-seq
MIRT1963956	hsa-miR-2117	CLIP-seq
MIRT2502927	hsa-miR-22	CLIP-seq
MIRT2502928	hsa-miR-2467-3p	CLIP-seq
MIRT2502929	hsa-miR-28-5p	CLIP-seq
MIRT1963957	hsa-miR-296-3p	CLIP-seq
MIRT890468	hsa-miR-296-5p	CLIP-seq
MIRT2502930	hsa-miR-3064-5p	CLIP-seq
MIRT2502931	hsa-miR-3130-3p	CLIP-seq
MIRT2502932	hsa-miR-3136-3p	CLIP-seq
MIRT2502933	hsa-miR-3139	CLIP-seq
MIRT2502934	hsa-miR-3158-5p	CLIP-seq
MIRT2678113	hsa-miR-3165	CLIP-seq
MIRT2502935	hsa-miR-3166	CLIP-seq
MIRT2678114	hsa-miR-3170	CLIP-seq
MIRT2502936	hsa-miR-3189-3p	CLIP-seq
MIRT2502937	hsa-miR-3189-5p	CLIP-seq
MIRT2502938	hsa-miR-3194-3p	CLIP-seq
MIRT2502939	hsa-miR-320e	CLIP-seq
MIRT2502940	hsa-miR-324-3p	CLIP-seq
MIRT2678115	hsa-miR-342-5p	CLIP-seq
MIRT890483	hsa-miR-346	CLIP-seq
MIRT1963959	hsa-miR-3591-3p	CLIP-seq
MIRT1963961	hsa-miR-361-3p	CLIP-seq
MIRT890486	hsa-miR-3649	CLIP-seq
MIRT890487	hsa-miR-3670	CLIP-seq
MIRT1963964	hsa-miR-3678-3p	CLIP-seq
MIRT2502941	hsa-miR-3684	CLIP-seq
MIRT2678116	hsa-miR-370	CLIP-seq
MIRT2502942	hsa-miR-376c	CLIP-seq
MIRT2678117	hsa-miR-3910	CLIP-seq
MIRT1963967	hsa-miR-3913-3p	CLIP-seq
MIRT1963968	hsa-miR-3918	CLIP-seq
MIRT2502943	hsa-miR-3925-3p	CLIP-seq
MIRT890493	hsa-miR-424	CLIP-seq
MIRT890494	hsa-miR-4270	CLIP-seq
MIRT2502944	hsa-miR-4287	CLIP-seq
MIRT890496	hsa-miR-4288	CLIP-seq
MIRT2502945	hsa-miR-4312	CLIP-seq
MIRT890498	hsa-miR-4323	CLIP-seq
MIRT890499	hsa-miR-4324	CLIP-seq
MIRT890503	hsa-miR-4441	CLIP-seq
MIRT2678118	hsa-miR-4455	CLIP-seq
MIRT2678119	hsa-miR-4456	CLIP-seq
MIRT890505	hsa-miR-4466	CLIP-seq
MIRT2502946	hsa-miR-4493	CLIP-seq
MIRT2502947	hsa-miR-4497	CLIP-seq
MIRT890508	hsa-miR-4514	CLIP-seq
MIRT890510	hsa-miR-4518	CLIP-seq
MIRT890511	hsa-miR-4520a-3p	CLIP-seq
MIRT2502948	hsa-miR-4522	CLIP-seq
MIRT2502949	hsa-miR-4640-3p	CLIP-seq
MIRT2502950	hsa-miR-4641	CLIP-seq
MIRT2678120	hsa-miR-4646-5p	CLIP-seq
MIRT890512	hsa-miR-4648	CLIP-seq
MIRT2678121	hsa-miR-4651	CLIP-seq
MIRT2678122	hsa-miR-4664-5p	CLIP-seq
MIRT2502951	hsa-miR-4674	CLIP-seq
MIRT2502952	hsa-miR-4685-3p	CLIP-seq
MIRT890514	hsa-miR-4685-5p	CLIP-seq
MIRT2502953	hsa-miR-4687-3p	CLIP-seq
MIRT890516	hsa-miR-4690-3p	CLIP-seq
MIRT890517	hsa-miR-4692	CLIP-seq
MIRT1963977	hsa-miR-4701-3p	CLIP-seq
MIRT890520	hsa-miR-4707-3p	CLIP-seq
MIRT890523	hsa-miR-4717-3p	CLIP-seq
MIRT890524	hsa-miR-4722-3p	CLIP-seq
MIRT2502954	hsa-miR-4731-5p	CLIP-seq
MIRT1963978	hsa-miR-4733-3p	CLIP-seq
MIRT890526	hsa-miR-4736	CLIP-seq
MIRT890528	hsa-miR-4747-5p	CLIP-seq
MIRT890529	hsa-miR-4749-3p	CLIP-seq
MIRT2502955	hsa-miR-4758-3p	CLIP-seq
MIRT890531	hsa-miR-4763-3p	CLIP-seq
MIRT1963981	hsa-miR-4768-5p	CLIP-seq
MIRT2502956	hsa-miR-4771	CLIP-seq
MIRT2502957	hsa-miR-4789-3p	CLIP-seq
MIRT2502958	hsa-miR-4793-3p	CLIP-seq
MIRT2502959	hsa-miR-4794	CLIP-seq
MIRT1963982	hsa-miR-489	CLIP-seq
MIRT890537	hsa-miR-497	CLIP-seq
MIRT2502960	hsa-miR-512-3p	CLIP-seq
MIRT890539	hsa-miR-541	CLIP-seq
MIRT890540	hsa-miR-544b	CLIP-seq
MIRT2502961	hsa-miR-558	CLIP-seq
MIRT2502962	hsa-miR-589	CLIP-seq
MIRT2678123	hsa-miR-596	CLIP-seq
MIRT2678124	hsa-miR-608	CLIP-seq
MIRT890545	hsa-miR-632	CLIP-seq
MIRT2502963	hsa-miR-635	CLIP-seq
MIRT890546	hsa-miR-642b	CLIP-seq
MIRT890547	hsa-miR-654-3p	CLIP-seq
MIRT890548	hsa-miR-654-5p	CLIP-seq
MIRT890549	hsa-miR-657	CLIP-seq
MIRT890550	hsa-miR-658	CLIP-seq
MIRT890553	hsa-miR-675	CLIP-seq
MIRT2502964	hsa-miR-708	CLIP-seq
MIRT2502965	hsa-miR-760	CLIP-seq
MIRT2502966	hsa-miR-765	CLIP-seq
MIRT2502967	hsa-miR-766	CLIP-seq
MIRT890554	hsa-miR-96	CLIP-seq

Show/Hide all (79)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000421	Component	Autophagosome membrane	IDA	17984323
GO:0000776	Component	Kinetochore	IDA	26040712
GO:0000776	Component	Kinetochore	IEA
GO:0000794	Component	Condensed nuclear chromosome	IDA	11559747
GO:0000815	Component	ESCRT III complex	IBA
GO:0000815	Component	ESCRT III complex	NAS	36107470
GO:0001778	Process	Plasma membrane repair	IDA	24482116
GO:0001778	Process	Plasma membrane repair	IEA
GO:0005515	Function	Protein binding	IPI	11559748, 12445808, 14505570, 14519844, 16730941, 17711858, 17928862, 19129479, 19129480, 19302785, 21988832, 23045692, 28514442, 32296183, 32814053, 33961781, 35271311
GO:0005634	Component	Nucleus	IEA
GO:0005643	Component	Nuclear pore	IDA	26040713
GO:0005643	Component	Nuclear pore	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005765	Component	Lysosomal membrane	IDA	17984323
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005768	Component	Endosome	IEA
GO:0005769	Component	Early endosome	IDA	11559748
GO:0005771	Component	Multivesicular body	IBA
GO:0005815	Component	Microtubule organizing center	IDA	11559748
GO:0005828	Component	Kinetochore microtubule	IDA	26040712
GO:0005828	Component	Kinetochore microtubule	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA	24878737
GO:0006914	Process	Autophagy	IMP	17984323
GO:0006997	Process	Nucleus organization	IMP	20616062
GO:0007034	Process	Vacuolar transport	IEA
GO:0007076	Process	Mitotic chromosome condensation	IDA	11559747
GO:0007080	Process	Mitotic metaphase chromosome alignment	IEA
GO:0007080	Process	Mitotic metaphase chromosome alignment	IMP	20616062
GO:0008237	Function	Metallopeptidase activity	TAS	8863740
GO:0008270	Function	Zinc ion binding	TAS	8863740
GO:0010008	Component	Endosome membrane	IEA
GO:0010629	Process	Negative regulation of gene expression	IDA	11559747
GO:0010824	Process	Regulation of centrosome duplication	IMP	20616062
GO:0012505	Component	Endomembrane system	IDA	11559748
GO:0015031	Process	Protein transport	IBA
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016192	Process	Vesicle-mediated transport	IDA	11559748
GO:0016363	Component	Nuclear matrix	IDA	11559747
GO:0016363	Component	Nuclear matrix	IEA
GO:0019904	Function	Protein domain specific binding	IPI	17928862
GO:0030496	Component	Midbody	IDA	26040712
GO:0030496	Component	Midbody	IEA
GO:0031468	Process	Nuclear membrane reassembly	IEA
GO:0031468	Process	Nuclear membrane reassembly	IMP	26040713
GO:0032509	Process	Endosome transport via multivesicular body sorting pathway	IBA
GO:0032585	Component	Multivesicular body membrane	IDA	16554368
GO:0032585	Component	Multivesicular body membrane	IEA
GO:0036258	Process	Multivesicular body assembly	NAS	16505166, 20588296
GO:0039702	Process	Viral budding via host ESCRT complex	IDA	24878737
GO:0039702	Process	Viral budding via host ESCRT complex	IEA
GO:0039702	Process	Viral budding via host ESCRT complex	NAS	20588296
GO:0042802	Function	Identical protein binding	IPI	16730941, 32296183
GO:0042803	Function	Protein homodimerization activity	IPI	14505570, 14519844
GO:0043162	Process	Ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	IDA	17984323
GO:0043162	Process	Ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	IEA
GO:0045324	Process	Late endosome to vacuole transport	IBA
GO:0046761	Process	Viral budding from plasma membrane	IDA	24878737
GO:0046761	Process	Viral budding from plasma membrane	IEA
GO:0051301	Process	Cell division	IEA
GO:0051301	Process	Cell division	IMP	19129479
GO:0051469	Process	Vesicle fusion with vacuole	NAS	16505166
GO:0061763	Process	Multivesicular body-lysosome fusion	NAS	16505166
GO:0061952	Process	Midbody abscission	IEA
GO:0061952	Process	Midbody abscission	IMP	20616062
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0071985	Process	Multivesicular body sorting pathway	IDA	16554368
GO:0071985	Process	Multivesicular body sorting pathway	IEA
GO:0090148	Process	Membrane fission	NAS	19234443
GO:0097352	Process	Autophagosome maturation	IEA
GO:0097352	Process	Autophagosome maturation	IMP	17984323
GO:1901673	Process	Regulation of mitotic spindle assembly	IEA
GO:1901673	Process	Regulation of mitotic spindle assembly	IMP	20616062
GO:1902774	Process	Late endosome to lysosome transport	IEA
GO:1902774	Process	Late endosome to lysosome transport	IMP	17984323
GO:1904903	Process	ESCRT III complex disassembly	NAS	20588296
GO:1904930	Component	Amphisome membrane	IDA	17984323
GO:1904930	Component	Amphisome membrane	IEA

MIM	HGNC	e!Ensembl
164010	8740	ENSG00000131165

Q9HD42

Protein name

Charged multivesicular body protein 1a (Chromatin-modifying protein 1a) (CHMP1a) (Vacuolar protein sorting-associated protein 46-1) (Vps46-1) (hVps46-1)

Protein function

Probable peripherally associated component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intral

PDB

2JQ9 , 2YMB , 4A5X

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03357	Snf7	4 → 174	Snf7	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in placenta, cultured skin fibroblasts and in osteoblast cell line MG-63. {ECO:0000269|PubMed:8863740}.

Sequence

MDDTLFQLKFTAKQLEKLAKKAEKDSKAEQAKVKKALLQKNVECARVYAENAIRKKNEGV
NWLRMASRVDAVASKVQTAVTMKGVTKNMAQVTKALDKALSTMDLQKVSSVMDRFEQQVQ
NLDVHTSVMEDSMSSATTLTTPQEQVDSLIMQIAEENGLEVLDQLSQLPEGASAVGESSV
RSQEDQLSRRLAALRN

Sequence length

196

Interactions

View interactions

	KEGG		Reactome
	Virion - Hepatitis viruses Endocytosis Necroptosis		HCMV Late Events

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)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Pontocerebellar hypoplasia type 8	Likely pathogenic	rs2543458244, rs398122918	RCV003148450 RCV000033060	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pontoneocerebellar hypoplasia	Likely pathogenic	rs2151511838	RCV003226733	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (24)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ASTHMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BASAL CELL CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHMP1A-related disorder	Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ABSENCE OF PART OF BRAIN	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HYPOPLASIA OF PART OF BRAIN	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL PONTOCEREBELLAR HYPOPLASIA TYPE 8	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYDRANENCEPHALY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LISSENCEPHALY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MACROGYRIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROGYRIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pontocerebellar hypoplasia type 1A	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PONTOCEREBELLAR HYPOPLASIA, TYPE 1A	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PONTOCEREBELLAR HYPOPLASIA, TYPE 8	—	CTD, HPO CTD, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (32)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Astigmatism	Astigmatism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pontocerebellar hypoplasia	Pontoneocerebellar hypoplasia	BEFREE	23023333, 30044992		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pontocerebellar hypoplasia	Pontoneocerebellar hypoplasia	GENOMICS_ENGLAND_DG	23023333		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pontocerebellar hypoplasia type 8	Pontoneocerebellar hypoplasia	GENOMICS_ENGLAND_DG	23023333		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital pontocerebellar hypoplasia type 8	Pontoneocerebellar hypoplasia	ORPHANET_DG	23023333		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital pontocerebellar hypoplasia type 8	Pontoneocerebellar hypoplasia	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital pontocerebellar hypoplasia type 8	Pontoneocerebellar hypoplasia	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	22261332		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	11559747, 11559748, 23023333		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esotropia	Esotropia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	9628816		★★★★★ ★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	9628816		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperopia	Hyperopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Kidney Neoplasm	Kidney Neoplasm	BEFREE	22261332		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	18787405		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	23023333, 30044992		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	11559747, 11559748, 23023333		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	18787405, 22261332		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	18787405		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	19216755	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	34148545	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pontocerebellar Hypoplasia Type 1	Pontoneocerebellar hypoplasia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pontocerebellar hypoplasia type 8	Pontoneocerebellar hypoplasia	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pontoneocerebellar hypoplasia	Pontoneocerebellar hypoplasia	BEFREE	23023333, 30044992		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	22261332		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	30259648	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

CHMP1A (charged multivesicular body protein 1A)