USP53 (ubiquitin specific peptidase 53)

Gene

• Entrez ID: 54532
• Gene name: Ubiquitin specific peptidase 53
• Gene symbol: USP53
• Synonyms (NCBI Gene): PFIC7
• Chromosome: 4
• Chromosome location: 4q26

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs199791850	C>T	Pathogenic	Coding sequence variant, stop gained
rs376368459	C>T	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained
rs751511532	C>T	Pathogenic	Coding sequence variant, stop gained
rs762702807	G>C,T	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs1317656688	G>T	Likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs1452792080	C>T	Pathogenic	Stop gained, coding sequence variant
rs1578490102	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1578491039	T>C	Pathogenic	Splice donor variant
rs1578499691	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1578504946	->AG	Pathogenic	Coding sequence variant, intron variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT023405	hsa-miR-30b-5p	Sequencing	20371350
MIRT032060	hsa-miR-16-5p	Sequencing	20371350
MIRT500583	hsa-miR-200a-3p	PAR-CLIP	24398324
MIRT500582	hsa-miR-141-3p	PAR-CLIP	24398324
MIRT500581	hsa-miR-497-3p	PAR-CLIP	24398324
MIRT309005	hsa-miR-548a-5p	PAR-CLIP	24398324
MIRT309016	hsa-miR-548ab	PAR-CLIP	24398324
MIRT309017	hsa-miR-548ad-5p	PAR-CLIP	24398324
MIRT309018	hsa-miR-548ae-5p	PAR-CLIP	24398324
MIRT309020	hsa-miR-548ak	PAR-CLIP	24398324
MIRT309022	hsa-miR-548am-5p	PAR-CLIP	24398324
MIRT309025	hsa-miR-548ap-5p	PAR-CLIP	24398324
MIRT309027	hsa-miR-548aq-5p	PAR-CLIP	24398324
MIRT309028	hsa-miR-548ar-5p	PAR-CLIP	24398324
MIRT309029	hsa-miR-548as-5p	PAR-CLIP	24398324
MIRT309030	hsa-miR-548au-5p	PAR-CLIP	24398324
MIRT309032	hsa-miR-548ay-5p	PAR-CLIP	24398324
MIRT309004	hsa-miR-548b-5p	PAR-CLIP	24398324
MIRT309033	hsa-miR-548bb-5p	PAR-CLIP	24398324
MIRT309006	hsa-miR-548c-5p	PAR-CLIP	24398324
MIRT309007	hsa-miR-548d-5p	PAR-CLIP	24398324
MIRT309011	hsa-miR-548h-5p	PAR-CLIP	24398324
MIRT309012	hsa-miR-548i	PAR-CLIP	24398324
MIRT309010	hsa-miR-548j-5p	PAR-CLIP	24398324
MIRT309015	hsa-miR-548o-5p	PAR-CLIP	24398324
MIRT309013	hsa-miR-548w	PAR-CLIP	24398324
MIRT309014	hsa-miR-548y	PAR-CLIP	24398324
MIRT309003	hsa-miR-559	PAR-CLIP	24398324
MIRT500579	hsa-miR-6757-3p	PAR-CLIP	24398324
MIRT500580	hsa-miR-15a-5p	PAR-CLIP	24398324
MIRT500578	hsa-miR-15b-5p	PAR-CLIP	24398324
MIRT032060	hsa-miR-16-5p	PAR-CLIP	24398324
MIRT500577	hsa-miR-195-5p	PAR-CLIP	24398324
MIRT500576	hsa-miR-424-5p	PAR-CLIP	24398324
MIRT500575	hsa-miR-497-5p	PAR-CLIP	24398324
MIRT500573	hsa-miR-6838-5p	PAR-CLIP	24398324
MIRT500574	hsa-miR-503-5p	PAR-CLIP	24398324
MIRT500572	hsa-miR-646	PAR-CLIP	24398324
MIRT309023	hsa-miR-3973	PAR-CLIP	24398324
MIRT309024	hsa-miR-4690-3p	PAR-CLIP	24398324
MIRT309031	hsa-miR-5685	PAR-CLIP	24398324
MIRT309001	hsa-miR-186-3p	PAR-CLIP	24398324
MIRT309019	hsa-miR-4456	PAR-CLIP	24398324
MIRT309002	hsa-miR-323a-5p	PAR-CLIP	24398324
MIRT309008	hsa-miR-876-3p	PAR-CLIP	24398324
MIRT309021	hsa-miR-4524a-5p	PAR-CLIP	24398324
MIRT309026	hsa-miR-4524b-5p	PAR-CLIP	24398324
MIRT309009	hsa-miR-374b-3p	PAR-CLIP	24398324
MIRT309036	hsa-miR-3120-3p	PAR-CLIP	23592263
MIRT309038	hsa-miR-6504-3p	PAR-CLIP	23592263
MIRT309034	hsa-miR-545-3p	PAR-CLIP	23592263
MIRT464345	hsa-miR-6806-5p	PAR-CLIP	23592263
MIRT464344	hsa-miR-6792-5p	PAR-CLIP	23592263
MIRT500583	hsa-miR-200a-3p	PAR-CLIP	24398324
MIRT500582	hsa-miR-141-3p	PAR-CLIP	24398324
MIRT500581	hsa-miR-497-3p	PAR-CLIP	24398324
MIRT309005	hsa-miR-548a-5p	PAR-CLIP	24398324
MIRT309016	hsa-miR-548ab	PAR-CLIP	24398324
MIRT309017	hsa-miR-548ad-5p	PAR-CLIP	24398324
MIRT309018	hsa-miR-548ae-5p	PAR-CLIP	24398324
MIRT309020	hsa-miR-548ak	PAR-CLIP	24398324
MIRT309022	hsa-miR-548am-5p	PAR-CLIP	24398324
MIRT309025	hsa-miR-548ap-5p	PAR-CLIP	24398324
MIRT309027	hsa-miR-548aq-5p	PAR-CLIP	24398324
MIRT309028	hsa-miR-548ar-5p	PAR-CLIP	24398324
MIRT309029	hsa-miR-548as-5p	PAR-CLIP	24398324
MIRT309030	hsa-miR-548au-5p	PAR-CLIP	24398324
MIRT309032	hsa-miR-548ay-5p	PAR-CLIP	24398324
MIRT309004	hsa-miR-548b-5p	PAR-CLIP	24398324
MIRT309033	hsa-miR-548bb-5p	PAR-CLIP	24398324
MIRT309006	hsa-miR-548c-5p	PAR-CLIP	24398324
MIRT309007	hsa-miR-548d-5p	PAR-CLIP	24398324
MIRT309011	hsa-miR-548h-5p	PAR-CLIP	24398324
MIRT309012	hsa-miR-548i	PAR-CLIP	24398324
MIRT309010	hsa-miR-548j-5p	PAR-CLIP	24398324
MIRT309015	hsa-miR-548o-5p	PAR-CLIP	24398324
MIRT309013	hsa-miR-548w	PAR-CLIP	24398324
MIRT309014	hsa-miR-548y	PAR-CLIP	24398324
MIRT309003	hsa-miR-559	PAR-CLIP	24398324
MIRT500579	hsa-miR-6757-3p	PAR-CLIP	24398324
MIRT500580	hsa-miR-15a-5p	PAR-CLIP	24398324
MIRT500578	hsa-miR-15b-5p	PAR-CLIP	24398324
MIRT032060	hsa-miR-16-5p	PAR-CLIP	24398324
MIRT500577	hsa-miR-195-5p	PAR-CLIP	24398324
MIRT500576	hsa-miR-424-5p	PAR-CLIP	24398324
MIRT500575	hsa-miR-497-5p	PAR-CLIP	24398324
MIRT500573	hsa-miR-6838-5p	PAR-CLIP	24398324
MIRT500574	hsa-miR-503-5p	PAR-CLIP	24398324
MIRT500572	hsa-miR-646	PAR-CLIP	24398324
MIRT309023	hsa-miR-3973	PAR-CLIP	24398324
MIRT309024	hsa-miR-4690-3p	PAR-CLIP	24398324
MIRT309031	hsa-miR-5685	PAR-CLIP	24398324
MIRT309001	hsa-miR-186-3p	PAR-CLIP	24398324
MIRT309019	hsa-miR-4456	PAR-CLIP	24398324
MIRT309002	hsa-miR-323a-5p	PAR-CLIP	24398324
MIRT309008	hsa-miR-876-3p	PAR-CLIP	24398324
MIRT309021	hsa-miR-4524a-5p	PAR-CLIP	24398324
MIRT309026	hsa-miR-4524b-5p	PAR-CLIP	24398324
MIRT309009	hsa-miR-374b-3p	PAR-CLIP	24398324
MIRT309036	hsa-miR-3120-3p	PAR-CLIP	23592263
MIRT309038	hsa-miR-6504-3p	PAR-CLIP	23592263
MIRT309034	hsa-miR-545-3p	PAR-CLIP	23592263
MIRT464345	hsa-miR-6806-5p	PAR-CLIP	23592263
MIRT464344	hsa-miR-6792-5p	PAR-CLIP	23592263
MIRT1480276	hsa-miR-105	CLIP-seq
MIRT1480277	hsa-miR-1179	CLIP-seq
MIRT1480278	hsa-miR-1244	CLIP-seq
MIRT1480279	hsa-miR-1256	CLIP-seq
MIRT1480280	hsa-miR-1271	CLIP-seq
MIRT1480281	hsa-miR-1297	CLIP-seq
MIRT1480282	hsa-miR-1305	CLIP-seq
MIRT1480283	hsa-miR-132	CLIP-seq
MIRT1480284	hsa-miR-141	CLIP-seq
MIRT1480285	hsa-miR-144	CLIP-seq
MIRT1480286	hsa-miR-15a	CLIP-seq
MIRT1480287	hsa-miR-15b	CLIP-seq
MIRT1480288	hsa-miR-16	CLIP-seq
MIRT1480289	hsa-miR-182	CLIP-seq
MIRT1480290	hsa-miR-195	CLIP-seq
MIRT1480291	hsa-miR-200a	CLIP-seq
MIRT1480292	hsa-miR-212	CLIP-seq
MIRT1480293	hsa-miR-224	CLIP-seq
MIRT1480294	hsa-miR-23a	CLIP-seq
MIRT1480295	hsa-miR-23b	CLIP-seq
MIRT1480296	hsa-miR-23c	CLIP-seq
MIRT1480297	hsa-miR-26a	CLIP-seq
MIRT1480298	hsa-miR-26b	CLIP-seq
MIRT1480299	hsa-miR-3064-3p	CLIP-seq
MIRT1480300	hsa-miR-3154	CLIP-seq
MIRT1480301	hsa-miR-3168	CLIP-seq
MIRT1480302	hsa-miR-3170	CLIP-seq
MIRT1480303	hsa-miR-323-5p	CLIP-seq
MIRT1480304	hsa-miR-330-3p	CLIP-seq
MIRT1480305	hsa-miR-3672	CLIP-seq
MIRT1480306	hsa-miR-375	CLIP-seq
MIRT1480307	hsa-miR-3908	CLIP-seq
MIRT1480308	hsa-miR-3942-5p	CLIP-seq
MIRT1480309	hsa-miR-424	CLIP-seq
MIRT1480310	hsa-miR-4251	CLIP-seq
MIRT1480311	hsa-miR-4259	CLIP-seq
MIRT1480312	hsa-miR-4263	CLIP-seq
MIRT1480313	hsa-miR-4272	CLIP-seq
MIRT1480314	hsa-miR-4275	CLIP-seq
MIRT1480315	hsa-miR-4282	CLIP-seq
MIRT1480316	hsa-miR-4329	CLIP-seq
MIRT1480317	hsa-miR-433	CLIP-seq
MIRT1480318	hsa-miR-4433	CLIP-seq
MIRT1480319	hsa-miR-4459	CLIP-seq
MIRT1480320	hsa-miR-4465	CLIP-seq
MIRT1480321	hsa-miR-4524	CLIP-seq
MIRT1480322	hsa-miR-4642	CLIP-seq
MIRT1480323	hsa-miR-4652-3p	CLIP-seq
MIRT1480324	hsa-miR-4666-5p	CLIP-seq
MIRT1480325	hsa-miR-4703-3p	CLIP-seq
MIRT1480326	hsa-miR-4703-5p	CLIP-seq
MIRT1480327	hsa-miR-4714-3p	CLIP-seq
MIRT1480328	hsa-miR-4715-5p	CLIP-seq
MIRT1480329	hsa-miR-4729	CLIP-seq
MIRT1480330	hsa-miR-4760-3p	CLIP-seq
MIRT1480331	hsa-miR-4766-3p	CLIP-seq
MIRT1480332	hsa-miR-4768-3p	CLIP-seq
MIRT1480333	hsa-miR-4775	CLIP-seq
MIRT1480334	hsa-miR-4802-3p	CLIP-seq
MIRT1480335	hsa-miR-4803	CLIP-seq
MIRT1480336	hsa-miR-497	CLIP-seq
MIRT1480337	hsa-miR-503	CLIP-seq
MIRT1480338	hsa-miR-5096	CLIP-seq
MIRT1480339	hsa-miR-520g	CLIP-seq
MIRT1480340	hsa-miR-520h	CLIP-seq
MIRT1480341	hsa-miR-545	CLIP-seq
MIRT1480342	hsa-miR-548a-3p	CLIP-seq
MIRT1480343	hsa-miR-548c-3p	CLIP-seq
MIRT1480344	hsa-miR-548e	CLIP-seq
MIRT1480345	hsa-miR-548f	CLIP-seq
MIRT1480346	hsa-miR-548h	CLIP-seq
MIRT1480347	hsa-miR-548j	CLIP-seq
MIRT1480348	hsa-miR-548k	CLIP-seq
MIRT1480349	hsa-miR-548l	CLIP-seq
MIRT1480350	hsa-miR-548n	CLIP-seq
MIRT1480351	hsa-miR-549	CLIP-seq
MIRT1480352	hsa-miR-562	CLIP-seq
MIRT1480353	hsa-miR-563	CLIP-seq
MIRT1480354	hsa-miR-576-5p	CLIP-seq
MIRT1480355	hsa-miR-582-5p	CLIP-seq
MIRT1480356	hsa-miR-590-3p	CLIP-seq
MIRT1480357	hsa-miR-607	CLIP-seq
MIRT1480358	hsa-miR-654-3p	CLIP-seq
MIRT1480359	hsa-miR-96	CLIP-seq
MIRT1557271	hsa-miR-376a	CLIP-seq
MIRT1557272	hsa-miR-376b	CLIP-seq
MIRT1557273	hsa-miR-487a	CLIP-seq
MIRT2144504	hsa-miR-125a-5p	CLIP-seq
MIRT2144505	hsa-miR-125b	CLIP-seq
MIRT2144506	hsa-miR-1262	CLIP-seq
MIRT1480282	hsa-miR-1305	CLIP-seq
MIRT2144507	hsa-miR-3146	CLIP-seq
MIRT1480304	hsa-miR-330-3p	CLIP-seq
MIRT2144508	hsa-miR-3622a-3p	CLIP-seq
MIRT2144509	hsa-miR-3622b-3p	CLIP-seq
MIRT2144510	hsa-miR-3924	CLIP-seq
MIRT2144511	hsa-miR-4287	CLIP-seq
MIRT2144512	hsa-miR-4319	CLIP-seq
MIRT2144513	hsa-miR-4469	CLIP-seq
MIRT2144514	hsa-miR-4506	CLIP-seq
MIRT2144515	hsa-miR-4685-3p	CLIP-seq
MIRT2144516	hsa-miR-4701-3p	CLIP-seq
MIRT2144517	hsa-miR-4732-3p	CLIP-seq
MIRT1480333	hsa-miR-4775	CLIP-seq
MIRT1480338	hsa-miR-5096	CLIP-seq
MIRT1480343	hsa-miR-548c-3p	CLIP-seq
MIRT1480356	hsa-miR-590-3p	CLIP-seq
MIRT1480357	hsa-miR-607	CLIP-seq
MIRT2144518	hsa-miR-670	CLIP-seq
MIRT2364818	hsa-miR-1278	CLIP-seq
MIRT2364819	hsa-miR-136	CLIP-seq
MIRT1480284	hsa-miR-141	CLIP-seq
MIRT1480286	hsa-miR-15a	CLIP-seq
MIRT1480287	hsa-miR-15b	CLIP-seq
MIRT1480288	hsa-miR-16	CLIP-seq
MIRT2364820	hsa-miR-1911	CLIP-seq
MIRT2364821	hsa-miR-193a-3p	CLIP-seq
MIRT2364822	hsa-miR-193b	CLIP-seq
MIRT1480290	hsa-miR-195	CLIP-seq
MIRT1480291	hsa-miR-200a	CLIP-seq
MIRT2364823	hsa-miR-200b	CLIP-seq
MIRT2364824	hsa-miR-200c	CLIP-seq
MIRT2364825	hsa-miR-2053	CLIP-seq
MIRT2364826	hsa-miR-216a	CLIP-seq
MIRT2364827	hsa-miR-216b	CLIP-seq
MIRT2364828	hsa-miR-221	CLIP-seq
MIRT2364829	hsa-miR-222	CLIP-seq
MIRT2364830	hsa-miR-3121-3p	CLIP-seq
MIRT2144507	hsa-miR-3146	CLIP-seq
MIRT2364831	hsa-miR-3157-3p	CLIP-seq
MIRT2364832	hsa-miR-323-3p	CLIP-seq
MIRT1480303	hsa-miR-323-5p	CLIP-seq
MIRT2364833	hsa-miR-361-5p	CLIP-seq
MIRT2364834	hsa-miR-3622a-5p	CLIP-seq
MIRT2364835	hsa-miR-374c	CLIP-seq
MIRT1557271	hsa-miR-376a	CLIP-seq
MIRT1557272	hsa-miR-376b	CLIP-seq
MIRT1480307	hsa-miR-3908	CLIP-seq
MIRT2364836	hsa-miR-3923	CLIP-seq
MIRT1480308	hsa-miR-3942-5p	CLIP-seq
MIRT1480309	hsa-miR-424	CLIP-seq
MIRT2364837	hsa-miR-4264	CLIP-seq
MIRT1480314	hsa-miR-4275	CLIP-seq
MIRT2364838	hsa-miR-4278	CLIP-seq
MIRT2364839	hsa-miR-429	CLIP-seq
MIRT2364840	hsa-miR-4423-3p	CLIP-seq
MIRT1480318	hsa-miR-4433	CLIP-seq
MIRT1480319	hsa-miR-4459	CLIP-seq
MIRT2364841	hsa-miR-4495	CLIP-seq
MIRT2364842	hsa-miR-4517	CLIP-seq
MIRT1480321	hsa-miR-4524	CLIP-seq
MIRT2364843	hsa-miR-4635	CLIP-seq
MIRT2364844	hsa-miR-4699-3p	CLIP-seq
MIRT2364845	hsa-miR-4701-5p	CLIP-seq
MIRT1480326	hsa-miR-4703-5p	CLIP-seq
MIRT2364846	hsa-miR-4704-3p	CLIP-seq
MIRT2364847	hsa-miR-4716-3p	CLIP-seq
MIRT1480331	hsa-miR-4766-3p	CLIP-seq
MIRT1480332	hsa-miR-4768-3p	CLIP-seq
MIRT2364848	hsa-miR-4786-3p	CLIP-seq
MIRT2364849	hsa-miR-4797-3p	CLIP-seq
MIRT1480336	hsa-miR-497	CLIP-seq
MIRT1480337	hsa-miR-503	CLIP-seq
MIRT2364850	hsa-miR-520d-5p	CLIP-seq
MIRT2364851	hsa-miR-524-5p	CLIP-seq
MIRT1480342	hsa-miR-548a-3p	CLIP-seq
MIRT1480344	hsa-miR-548e	CLIP-seq
MIRT1480345	hsa-miR-548f	CLIP-seq
MIRT2364852	hsa-miR-570	CLIP-seq
MIRT2364853	hsa-miR-576-3p	CLIP-seq
MIRT1480355	hsa-miR-582-5p	CLIP-seq
MIRT2364854	hsa-miR-588	CLIP-seq
MIRT2364855	hsa-miR-655	CLIP-seq
MIRT2364856	hsa-miR-892b	CLIP-seq
MIRT2364857	hsa-miR-934	CLIP-seq
MIRT2364858	hsa-miR-935	CLIP-seq
MIRT1480278	hsa-miR-1244	CLIP-seq
MIRT1480279	hsa-miR-1256	CLIP-seq
MIRT2144506	hsa-miR-1262	CLIP-seq
MIRT1480280	hsa-miR-1271	CLIP-seq
MIRT1480281	hsa-miR-1297	CLIP-seq
MIRT1480282	hsa-miR-1305	CLIP-seq
MIRT1480283	hsa-miR-132	CLIP-seq
MIRT2434469	hsa-miR-142-5p	CLIP-seq
MIRT1480285	hsa-miR-144	CLIP-seq
MIRT1480286	hsa-miR-15a	CLIP-seq
MIRT1480287	hsa-miR-15b	CLIP-seq
MIRT1480288	hsa-miR-16	CLIP-seq
MIRT1480289	hsa-miR-182	CLIP-seq
MIRT2434470	hsa-miR-194	CLIP-seq
MIRT1480290	hsa-miR-195	CLIP-seq
MIRT1480292	hsa-miR-212	CLIP-seq
MIRT1480294	hsa-miR-23a	CLIP-seq
MIRT1480295	hsa-miR-23b	CLIP-seq
MIRT1480296	hsa-miR-23c	CLIP-seq
MIRT1480297	hsa-miR-26a	CLIP-seq
MIRT1480298	hsa-miR-26b	CLIP-seq
MIRT2434471	hsa-miR-28-5p	CLIP-seq
MIRT2434472	hsa-miR-3139	CLIP-seq
MIRT2434473	hsa-miR-3143	CLIP-seq
MIRT2144507	hsa-miR-3146	CLIP-seq
MIRT1480300	hsa-miR-3154	CLIP-seq
MIRT2434474	hsa-miR-3163	CLIP-seq
MIRT1480301	hsa-miR-3168	CLIP-seq
MIRT2364832	hsa-miR-323-3p	CLIP-seq
MIRT1480303	hsa-miR-323-5p	CLIP-seq
MIRT1480304	hsa-miR-330-3p	CLIP-seq
MIRT2434475	hsa-miR-338-3p	CLIP-seq
MIRT2434476	hsa-miR-340	CLIP-seq
MIRT2434477	hsa-miR-3613-3p	CLIP-seq
MIRT2364833	hsa-miR-361-5p	CLIP-seq
MIRT2434478	hsa-miR-3647-3p	CLIP-seq
MIRT2434479	hsa-miR-3680	CLIP-seq
MIRT2434480	hsa-miR-369-3p	CLIP-seq
MIRT2434481	hsa-miR-374a	CLIP-seq
MIRT2434482	hsa-miR-374b	CLIP-seq
MIRT1480306	hsa-miR-375	CLIP-seq
MIRT1557271	hsa-miR-376a	CLIP-seq
MIRT1557272	hsa-miR-376b	CLIP-seq
MIRT2434483	hsa-miR-380	CLIP-seq
MIRT1480307	hsa-miR-3908	CLIP-seq
MIRT2364836	hsa-miR-3923	CLIP-seq
MIRT2144510	hsa-miR-3924	CLIP-seq
MIRT1480308	hsa-miR-3942-5p	CLIP-seq
MIRT2434484	hsa-miR-409-5p	CLIP-seq
MIRT2434485	hsa-miR-410	CLIP-seq
MIRT1480309	hsa-miR-424	CLIP-seq
MIRT1480311	hsa-miR-4259	CLIP-seq
MIRT1480312	hsa-miR-4263	CLIP-seq
MIRT2364837	hsa-miR-4264	CLIP-seq
MIRT1480315	hsa-miR-4282	CLIP-seq
MIRT2434486	hsa-miR-4307	CLIP-seq
MIRT1480317	hsa-miR-433	CLIP-seq
MIRT2434487	hsa-miR-4422	CLIP-seq
MIRT1480318	hsa-miR-4433	CLIP-seq
MIRT2434488	hsa-miR-4436b-3p	CLIP-seq
MIRT1480319	hsa-miR-4459	CLIP-seq
MIRT2434489	hsa-miR-4464	CLIP-seq
MIRT1480320	hsa-miR-4465	CLIP-seq
MIRT2434490	hsa-miR-4477a	CLIP-seq
MIRT2364841	hsa-miR-4495	CLIP-seq
MIRT2144514	hsa-miR-4506	CLIP-seq
MIRT2364842	hsa-miR-4517	CLIP-seq
MIRT1480321	hsa-miR-4524	CLIP-seq
MIRT2434491	hsa-miR-4533	CLIP-seq
MIRT1480322	hsa-miR-4642	CLIP-seq
MIRT1480323	hsa-miR-4652-3p	CLIP-seq
MIRT2364844	hsa-miR-4699-3p	CLIP-seq
MIRT2144516	hsa-miR-4701-3p	CLIP-seq
MIRT1480325	hsa-miR-4703-3p	CLIP-seq
MIRT1480326	hsa-miR-4703-5p	CLIP-seq
MIRT1480327	hsa-miR-4714-3p	CLIP-seq
MIRT1480328	hsa-miR-4715-5p	CLIP-seq
MIRT2434492	hsa-miR-4735-5p	CLIP-seq
MIRT2434493	hsa-miR-4747-5p	CLIP-seq
MIRT2434494	hsa-miR-4748	CLIP-seq
MIRT1480331	hsa-miR-4766-3p	CLIP-seq
MIRT1480332	hsa-miR-4768-3p	CLIP-seq
MIRT1480333	hsa-miR-4775	CLIP-seq
MIRT2364848	hsa-miR-4786-3p	CLIP-seq
MIRT2434495	hsa-miR-4795-3p	CLIP-seq
MIRT2364849	hsa-miR-4797-3p	CLIP-seq
MIRT2434496	hsa-miR-4799-5p	CLIP-seq
MIRT1480335	hsa-miR-4803	CLIP-seq
MIRT1557273	hsa-miR-487a	CLIP-seq
MIRT2434497	hsa-miR-493	CLIP-seq
MIRT1480336	hsa-miR-497	CLIP-seq
MIRT1480337	hsa-miR-503	CLIP-seq
MIRT2364850	hsa-miR-520d-5p	CLIP-seq
MIRT1480339	hsa-miR-520g	CLIP-seq
MIRT1480340	hsa-miR-520h	CLIP-seq
MIRT2364851	hsa-miR-524-5p	CLIP-seq
MIRT2434498	hsa-miR-543	CLIP-seq
MIRT1480342	hsa-miR-548a-3p	CLIP-seq
MIRT2434499	hsa-miR-548ag	CLIP-seq
MIRT2434500	hsa-miR-548ai	CLIP-seq
MIRT1480343	hsa-miR-548c-3p	CLIP-seq
MIRT1480344	hsa-miR-548e	CLIP-seq
MIRT1480345	hsa-miR-548f	CLIP-seq
MIRT1480346	hsa-miR-548h	CLIP-seq
MIRT1480347	hsa-miR-548j	CLIP-seq
MIRT1480348	hsa-miR-548k	CLIP-seq
MIRT1480349	hsa-miR-548l	CLIP-seq
MIRT2434501	hsa-miR-548u	CLIP-seq
MIRT1480351	hsa-miR-549	CLIP-seq
MIRT1480354	hsa-miR-576-5p	CLIP-seq
MIRT1480356	hsa-miR-590-3p	CLIP-seq
MIRT1480357	hsa-miR-607	CLIP-seq
MIRT2434502	hsa-miR-634	CLIP-seq
MIRT2434503	hsa-miR-647	CLIP-seq
MIRT2434504	hsa-miR-708	CLIP-seq
MIRT2364858	hsa-miR-935	CLIP-seq
MIRT1480359	hsa-miR-96	CLIP-seq
MIRT2658663	hsa-miR-106a	CLIP-seq
MIRT2658664	hsa-miR-106b	CLIP-seq
MIRT2144504	hsa-miR-125a-5p	CLIP-seq
MIRT2144505	hsa-miR-125b	CLIP-seq
MIRT2144506	hsa-miR-1262	CLIP-seq
MIRT2658665	hsa-miR-129-3p	CLIP-seq
MIRT1480282	hsa-miR-1305	CLIP-seq
MIRT2364819	hsa-miR-136	CLIP-seq
MIRT1480284	hsa-miR-141	CLIP-seq
MIRT1480286	hsa-miR-15a	CLIP-seq
MIRT1480287	hsa-miR-15b	CLIP-seq
MIRT1480288	hsa-miR-16	CLIP-seq
MIRT2658666	hsa-miR-17	CLIP-seq
MIRT1480290	hsa-miR-195	CLIP-seq
MIRT1480291	hsa-miR-200a	CLIP-seq
MIRT2658667	hsa-miR-20a	CLIP-seq
MIRT2658668	hsa-miR-20b	CLIP-seq
MIRT2364826	hsa-miR-216a	CLIP-seq
MIRT2364827	hsa-miR-216b	CLIP-seq
MIRT1480294	hsa-miR-23a	CLIP-seq
MIRT1480295	hsa-miR-23b	CLIP-seq
MIRT1480296	hsa-miR-23c	CLIP-seq
MIRT2658669	hsa-miR-302a	CLIP-seq
MIRT2658670	hsa-miR-302b	CLIP-seq
MIRT2658671	hsa-miR-302c	CLIP-seq
MIRT2658672	hsa-miR-302d	CLIP-seq
MIRT2658673	hsa-miR-302e	CLIP-seq
MIRT2434474	hsa-miR-3163	CLIP-seq
MIRT1480303	hsa-miR-323-5p	CLIP-seq
MIRT2434477	hsa-miR-3613-3p	CLIP-seq
MIRT2144508	hsa-miR-3622a-3p	CLIP-seq
MIRT2144509	hsa-miR-3622b-3p	CLIP-seq
MIRT2658674	hsa-miR-3646	CLIP-seq
MIRT2658675	hsa-miR-372	CLIP-seq
MIRT2658676	hsa-miR-373	CLIP-seq
MIRT2434481	hsa-miR-374a	CLIP-seq
MIRT2434482	hsa-miR-374b	CLIP-seq
MIRT1557271	hsa-miR-376a	CLIP-seq
MIRT1557272	hsa-miR-376b	CLIP-seq
MIRT2144510	hsa-miR-3924	CLIP-seq
MIRT2434484	hsa-miR-409-5p	CLIP-seq
MIRT1480309	hsa-miR-424	CLIP-seq
MIRT1480313	hsa-miR-4272	CLIP-seq
MIRT1480314	hsa-miR-4275	CLIP-seq
MIRT1480315	hsa-miR-4282	CLIP-seq
MIRT2144511	hsa-miR-4287	CLIP-seq
MIRT2144512	hsa-miR-4319	CLIP-seq
MIRT2434487	hsa-miR-4422	CLIP-seq
MIRT2144513	hsa-miR-4469	CLIP-seq
MIRT2144514	hsa-miR-4506	CLIP-seq
MIRT1480321	hsa-miR-4524	CLIP-seq
MIRT2144515	hsa-miR-4685-3p	CLIP-seq
MIRT2144516	hsa-miR-4701-3p	CLIP-seq
MIRT2144517	hsa-miR-4732-3p	CLIP-seq
MIRT2658677	hsa-miR-4778-3p	CLIP-seq
MIRT2364848	hsa-miR-4786-3p	CLIP-seq
MIRT2434495	hsa-miR-4795-3p	CLIP-seq
MIRT1557273	hsa-miR-487a	CLIP-seq
MIRT1480336	hsa-miR-497	CLIP-seq
MIRT1480337	hsa-miR-503	CLIP-seq
MIRT1480338	hsa-miR-5096	CLIP-seq
MIRT2658678	hsa-miR-519d	CLIP-seq
MIRT2658679	hsa-miR-520a-3p	CLIP-seq
MIRT2658680	hsa-miR-520b	CLIP-seq
MIRT2658681	hsa-miR-520c-3p	CLIP-seq
MIRT2658682	hsa-miR-520d-3p	CLIP-seq
MIRT2658683	hsa-miR-520e	CLIP-seq
MIRT2658684	hsa-miR-520f	CLIP-seq
MIRT1480346	hsa-miR-548h	CLIP-seq
MIRT1480347	hsa-miR-548j	CLIP-seq
MIRT1480348	hsa-miR-548k	CLIP-seq
MIRT1480350	hsa-miR-548n	CLIP-seq
MIRT2434501	hsa-miR-548u	CLIP-seq
MIRT1480351	hsa-miR-549	CLIP-seq
MIRT2658685	hsa-miR-577	CLIP-seq
MIRT2658686	hsa-miR-660	CLIP-seq
MIRT2144518	hsa-miR-670	CLIP-seq
MIRT2658687	hsa-miR-93	CLIP-seq
MIRT2658688	hsa-miR-944	CLIP-seq
MIRT2144504	hsa-miR-125a-5p	CLIP-seq
MIRT2144505	hsa-miR-125b	CLIP-seq
MIRT2144506	hsa-miR-1262	CLIP-seq
MIRT2658665	hsa-miR-129-3p	CLIP-seq
MIRT1480282	hsa-miR-1305	CLIP-seq
MIRT1480284	hsa-miR-141	CLIP-seq
MIRT1480286	hsa-miR-15a	CLIP-seq
MIRT1480287	hsa-miR-15b	CLIP-seq
MIRT1480288	hsa-miR-16	CLIP-seq
MIRT1480290	hsa-miR-195	CLIP-seq
MIRT1480291	hsa-miR-200a	CLIP-seq
MIRT1480294	hsa-miR-23a	CLIP-seq
MIRT1480295	hsa-miR-23b	CLIP-seq
MIRT1480296	hsa-miR-23c	CLIP-seq
MIRT2434474	hsa-miR-3163	CLIP-seq
MIRT1480303	hsa-miR-323-5p	CLIP-seq
MIRT2434477	hsa-miR-3613-3p	CLIP-seq
MIRT2144508	hsa-miR-3622a-3p	CLIP-seq
MIRT2144509	hsa-miR-3622b-3p	CLIP-seq
MIRT2658674	hsa-miR-3646	CLIP-seq
MIRT1557271	hsa-miR-376a	CLIP-seq
MIRT1557272	hsa-miR-376b	CLIP-seq
MIRT2144510	hsa-miR-3924	CLIP-seq
MIRT1480309	hsa-miR-424	CLIP-seq
MIRT1480314	hsa-miR-4275	CLIP-seq
MIRT1480315	hsa-miR-4282	CLIP-seq
MIRT2144511	hsa-miR-4287	CLIP-seq
MIRT2144512	hsa-miR-4319	CLIP-seq
MIRT2144513	hsa-miR-4469	CLIP-seq
MIRT2144514	hsa-miR-4506	CLIP-seq
MIRT1480321	hsa-miR-4524	CLIP-seq
MIRT2144515	hsa-miR-4685-3p	CLIP-seq
MIRT2144516	hsa-miR-4701-3p	CLIP-seq
MIRT2144517	hsa-miR-4732-3p	CLIP-seq
MIRT2364848	hsa-miR-4786-3p	CLIP-seq
MIRT2434495	hsa-miR-4795-3p	CLIP-seq
MIRT1557273	hsa-miR-487a	CLIP-seq
MIRT1480336	hsa-miR-497	CLIP-seq
MIRT1480337	hsa-miR-503	CLIP-seq
MIRT1480346	hsa-miR-548h	CLIP-seq
MIRT1480347	hsa-miR-548j	CLIP-seq
MIRT1480348	hsa-miR-548k	CLIP-seq
MIRT1480350	hsa-miR-548n	CLIP-seq
MIRT2434501	hsa-miR-548u	CLIP-seq
MIRT2144518	hsa-miR-670	CLIP-seq
MIRT2658688	hsa-miR-944	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001508	Process	Action potential	IEA
GO:0004843	Function	Cysteine-type deubiquitinase activity	IDA	14715245
GO:0005515	Function	Protein binding	IPI	26871637, 27107012, 32296183
GO:0005911	Component	Cell-cell junction	IBA
GO:0005911	Component	Cell-cell junction	IEA
GO:0005923	Component	Bicellular tight junction	IEA
GO:0005923	Component	Bicellular tight junction	IMP	32124521
GO:0007605	Process	Sensory perception of sound	IBA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0010996	Process	Response to auditory stimulus	IBA
GO:0010996	Process	Response to auditory stimulus	IEA
GO:0016579	Process	Protein deubiquitination	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051402	Process	Neuron apoptotic process	IEA
GO:0061578	Function	K63-linked deubiquitinase activity	IDA	39587316
GO:0061578	Function	K63-linked deubiquitinase activity	IEA
GO:0070161	Component	Anchoring junction	IEA
GO:1904019	Process	Epithelial cell apoptotic process	IEA
GO:1905584	Process	Outer hair cell apoptotic process	IEA

Other IDs

• MIM: 617431
• HGNC: 29255
• e!Ensembl: ENSG00000145390

Protein

• UniProt ID: Q70EK8
• Protein name: Ubiquitin carboxyl-terminal hydrolase 53 (EC 3.4.19.12) (Ubiquitin-specific peptidase 53)
• Protein function: Deubiquitinase that mediates 'Lys-63'-linked deubiquitination of tight junction proteins, such as MARVELD2 and LSR, and which is involved in the survival of auditory hair cells and hearing (PubMed:32124521, PubMed:39587316). Specifically cleaves
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00443	UCH	30 → 348	Ubiquitin carboxyl-terminal hydrolase	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed predominantly in skeletal muscle and heart. {ECO:0000269|PubMed:14715245}.
• Sequence:

  MAWVKFLRKPGGNLGKVYQPGSMLSLAPTKGLLNEPGQNSCFLNSAVQVLWQLDIFRRSL
  RVLTGHVCQGDACIFCALKTIFAQFQHSREKALPSDNIRHALAESFKDEQRFQLGLMDDA
  AECFENMLERIHFHIVPSRDADMCTSKSCITHQKFAMTLYEQCVCRSCGASSDPLPFTEF
  VRYISTTALCNEVERMLERHERFKPEMFAELLQAANTTDDYRKCPSNCGQKIKIRRVLMN
  CPEIVTIGLVWDSEHSDLTEAVVRNLATHLYLPGLFYRVTDENAKNSELNLVGMICYTSQ
  HYCAFAFHTKSSKWVFFDDANVKEIGTRWKDVVSKCIRCHFQPLLLFYANPDGTAVSTED
  ALRQVISWSHYKSVAENMGCEKPVIHKSDNLKENGFGDQAKQRENQKFPTDNISSSNRSH
  SHTGVGKGPAKLSHIDQREKIKDISRECALKAIEQKNLLSSQRKDLEKGQRKDLGRHRDL
  VDEDLSHFQSGSPPAPNGFKQHGNPHLYHSQGKGSYKHDRVVPQSRASAQIISSSKSQIL
  APGEKITGKVKSDNGTGYDTDSSQDSRDRGNSCDSSSKSRNRGWKPMRETLNVDSIFSES
  EKRQHSPRHKPNISNKPKSSKDPSFSNWPKENPKQKGLMTIYEDEMKQEIGSRSSLESNG
  KGAEKNKGLVEGKVHGDNWQMQRTESGYESSDHISNGSTNLDSPVIDGNGTVMDISGVKE
  TVCFSDQITTSNLNKERGDCTSLQSQHHLEGFRKELRNLEAGYKSHEFHPESHLQIKNHL
  IKRSHVHEDNGKLFPSSSLQIPKDHNAREHIHQSDEQKLEKPNECKFSEWLNIENSERTG
  LPFHVDNSASGKRVNSNEPSSLWSSHLRTVGLKPETAPLIQQQNIMDQCYFENSLSTECI
  IRSASRSDGCQMPKLFCQNLPPPLPPKKYAITSVPQSEKSESTPDVKLTEVFKATSHLPK
  HSLSTASEPSLEVSTHMNDERHKETFQVRECFGNTPNCPSSSSTNDFQANSGAIDAFCQP
  ELDSISTCPNETVSLTTYFSVDSCMTDTYRLKYHQRPKLSFPESSGFCNNSLS

• Sequence length: 1073

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
Cholestasis	Pathogenic; Likely pathogenic	rs751511532, rs376368459, rs762702807, rs1578490102, rs1578499691, rs1578504946, rs1317656688, rs199791850, rs1452792080, rs1578491039	RCV000856559 RCV000856552 RCV000856553 RCV000856554 RCV000856556 RCV000856557 RCV000856558 RCV000856560 RCV000856561 RCV000856555	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cholestasis, progressive familial intrahepatic, (PFIC4-like)	Pathogenic	rs751511532	RCV000855541	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss	Pathogenic; Likely pathogenic	rs2149389813, rs1561279060, rs2149374086, rs1748101805, rs2149341072, rs767460503, rs1263067327, rs2530515702, rs1751264238, rs2530194325, rs2530512499, rs1265790137, rs1288933417, rs749211191, rs1748106152, rs770909166, rs1748093286, rs2530264975, rs751511532, rs376368459, rs762702807, rs1578499691, rs199791850, rs1452792080	RCV001795663 RCV001795664 RCV001795665 RCV001808242 RCV002052053 RCV002052191 RCV002246805 RCV002283729 RCV002283808 RCV002283943 RCV003131853 RCV003988105 RCV003340843 RCV003338225 RCV003448754 RCV003448755 RCV003494422 RCV003988978 RCV001796277 RCV001796278 RCV001796279 RCV001796280 RCV005225171 RCV002051902	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
USP53-related disorder	Likely pathogenic	rs2530650387, rs2530264975	RCV003403089 RCV004756558	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORNEAL ASTIGMATISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Premature ovarian insufficiency	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROGRESSIVE INTRAHEPATIC CHOLESTASIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	32508265	Associate	★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	BEFREE	30250217		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cholestasis	Cholelithiasis	Pubtator	30250217, 33075013, 34681012, 37992747, 39498937	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cholestasis Intrahepatic	Intrahepatic cholestasis	Pubtator	38204320	Associate	★☆☆☆☆ Found in Text Mining only
Cholestasis progressive familial intrahepatic 1	Cholelithiasis	Pubtator	37992747, 38204320	Associate	★☆☆☆☆ Found in Text Mining only
Cholestasis progressive familial intrahepatic 3	Cholelithiasis	Pubtator	34681012	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	30250217	Associate	★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholestasis of Pregnancy	Intrahepatic cholestasis of pregnancy	Pubtator	39498937	Associate	★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	33075013	Associate	★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	30250217, 33075013	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	34681012	Associate	★☆☆☆☆ Found in Text Mining only
Splenomegaly	Splenomegaly	Pubtator	33075013	Associate	★☆☆☆☆ Found in Text Mining only