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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	8314
Gene name Gene Name - the full gene name approved by the HGNC.	BRCA1 associated deubiquitinase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	BAP1
Synonyms (NCBI Gene) Gene synonyms aliases	HUCEP-13, KURIS, TPDS1, UBM2, UCHL2, UVM2, hucep-6
Chromosome Chromosome number	3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	3p21.1
Summary Summary of gene provided in NCBI Entrez Gene.	This gene belongs to the ubiquitin C-terminal hydrolase subfamily of deubiquitinating enzymes that are involved in the removal of ubiquitin from proteins. The encoded enzyme binds to the breast cancer type 1 susceptibility protein (BRCA1) via the RING fin

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SNP ID	Visualize variation	Clinical significance	Consequence
rs112194987	T>A,C	Likely-pathogenic	Splice acceptor variant
rs143901408	A>C,G	Pathogenic, benign, benign-likely-benign, likely-benign	Stop gained, synonymous variant, coding sequence variant
rs149158790	G>A	Not-provided, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs150945583	A>G	Benign-likely-benign, conflicting-interpretations-of-pathogenicity, likely-benign, benign	Intron variant
rs151308667	C>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs199608453	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs200156887	A>C	Pathogenic, uncertain-significance	Coding sequence variant, stop gained
rs201122466	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs201203425	C>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs369277958	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs369744075	C>G	Conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign	Coding sequence variant, synonymous variant
rs371114912	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs374746213	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, missense variant
rs375129361	T>A,C	Pathogenic	Coding sequence variant, missense variant
rs387906848	G>A	Pathogenic	Coding sequence variant, stop gained
rs387906849	G>A	Pathogenic	Coding sequence variant, stop gained
rs397509414	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs551399575	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs572089064	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs576538858	C>T	Not-provided, conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs587776877	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs587776878	T>C	Pathogenic	Splice acceptor variant
rs587776879	T>C	Pathogenic	Splice acceptor variant
rs752536342	G>A,T	Likely-pathogenic, uncertain-significance	Intron variant
rs753460994	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs770925902	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs773494626	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs774730309	A>C,G	Likely-pathogenic	Splice donor variant
rs775451516	C>A,T	Likely-pathogenic	Splice donor variant
rs776240891	G>A,T	Pathogenic	Coding sequence variant, missense variant, stop gained
rs777664260	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs864622592	G>A	Pathogenic	Stop gained, coding sequence variant
rs869025212	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs869312757	G>A,C	Pathogenic, uncertain-significance	Missense variant, stop gained, coding sequence variant
rs878854741	T>G	Likely-pathogenic, uncertain-significance	Intron variant
rs886058705	TA>-	Conflicting-interpretations-of-pathogenicity, pathogenic	Stop gained, coding sequence variant
rs915913191	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs1060503726	C>A,T	Pathogenic, uncertain-significance	Stop gained, missense variant, coding sequence variant
rs1060503727	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1060503731	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1060503732	C>G	Likely-pathogenic	Splice acceptor variant
rs1060503743	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1060503744	T>A	Pathogenic	Stop gained, coding sequence variant
rs1060503750	C>A,T	Likely-pathogenic	Splice donor variant
rs1064795638	G>A	Pathogenic	Stop gained, coding sequence variant
rs1064795667	C>-	Likely-pathogenic	Splice donor variant, coding sequence variant
rs1064795786	A>G,T	Pathogenic, likely-benign	Stop gained, synonymous variant, coding sequence variant
rs1205668341	C>-,CC	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1253151209	G>A,T	Pathogenic	Coding sequence variant, stop gained, synonymous variant
rs1351986946	TT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1365625070	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs1478603808	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1553644634	C>T	Likely-pathogenic	Splice acceptor variant
rs1553644659	T>A	Pathogenic	Stop gained, coding sequence variant
rs1553644815	->A	Pathogenic	Stop gained, coding sequence variant
rs1553644922	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553644949	G>C,T	Pathogenic	Stop gained, coding sequence variant
rs1553645117	CGTCATCCTCAT>-	Pathogenic	Inframe indel, stop gained, coding sequence variant
rs1553645126	->A	Pathogenic	Stop gained, coding sequence variant
rs1553645136	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1553645146	G>A	Pathogenic	Stop gained, coding sequence variant
rs1553645164	G>A	Pathogenic	Stop gained, coding sequence variant
rs1553645329	G>C	Pathogenic	Stop gained, coding sequence variant
rs1553645486	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1553645492	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1553645497	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1553645586	->TAGTA	Pathogenic	Inframe indel, stop gained, coding sequence variant
rs1553645591	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1553645720	C>A	Pathogenic	Stop gained, coding sequence variant
rs1553645725	C>T	Pathogenic	Stop gained, coding sequence variant
rs1553645728	->A	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553645729	C>A,T	Likely-pathogenic	Splice acceptor variant
rs1553645785	C>A,T	Likely-pathogenic	Splice donor variant
rs1553645806	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1553645809	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1553645838	C>A	Likely-pathogenic	Splice donor variant
rs1553646061	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1559585465	->CCAGC	Pathogenic	Frameshift variant, coding sequence variant
rs1559585778	GAGT>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1559586168	C>T	Likely-pathogenic	Splice acceptor variant
rs1559586374	C>-	Pathogenic	Splice donor variant, coding sequence variant
rs1559586782	TC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1559586965	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1559587104	G>A	Pathogenic	Stop gained, coding sequence variant
rs1559588632	CATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAG>-	Pathogenic	Splice acceptor variant, intron variant, coding sequence variant
rs1559589252	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1559589344	T>A	Likely-pathogenic	Splice acceptor variant
rs1559589809	T>C	Likely-pathogenic	Splice acceptor variant, intron variant
rs1559590613	AG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1559591511	CAGAGTCCAGCAGACCT>-	Likely-pathogenic	Splice donor variant, intron variant, coding sequence variant
rs1559591728	C>T	Pathogenic	Stop gained, coding sequence variant
rs1578218746	TCTCTGGTCATCAATCTGT>-	Likely-pathogenic	Intron variant, coding sequence variant, splice acceptor variant
rs1578218761	G>A	Pathogenic	Stop gained, coding sequence variant
rs1578219056	A>T	Pathogenic	Stop gained, coding sequence variant
rs1578220161	C>T	Pathogenic	Splice donor variant
rs1578220452	AAAGCACC>TGTGGGAGGTGTG	Pathogenic	Frameshift variant, coding sequence variant
rs1578220681	AG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1578221396	C>T	Likely-pathogenic	Splice acceptor variant
rs1578222261	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1578223103	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1578223503	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1578224271	TCAGAGGCTGCAGGGGCCCT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1578224341	CT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1578225176	->C	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1578225793	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1578225864	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1578226444	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1578227520	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1578227605	->T	Pathogenic	Frameshift variant, coding sequence variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT000730	hsa-miR-200a-3p	Review	19574400
MIRT000727	hsa-miR-141-3p	Review	19574400
MIRT000726	hsa-miR-200c-3p	Review	19574400
MIRT000724	hsa-miR-200b-3p	Review	19574400
MIRT000730	hsa-miR-200a-3p	Microarray	17875710
MIRT000724	hsa-miR-200b-3p	Microarray	17875710
MIRT000726	hsa-miR-200c-3p	Microarray	17875710
MIRT000727	hsa-miR-141-3p	Microarray	17875710
MIRT016637	hsa-miR-429	Reporter assay	20005803
MIRT000730	hsa-miR-200a-3p	Reporter assay	20005803
MIRT000726	hsa-miR-200c-3p	Reporter assay	20005803
MIRT000727	hsa-miR-141-3p	Reporter assay	20005803
MIRT000724	hsa-miR-200b-3p	Reporter assay	20005803
MIRT038727	hsa-miR-93-3p	CLASH	23622248
MIRT037201	hsa-miR-877-3p	CLASH	23622248
MIRT036361	hsa-miR-1229-3p	CLASH	23622248
MIRT441127	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT441127	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT756410	hsa-miR-150-5p	Luciferase reporter assay, Western blotting, qRT-PCR	35833822
MIRT815825	hsa-miR-1207-5p	CLIP-seq
MIRT815826	hsa-miR-125a-5p	CLIP-seq
MIRT815827	hsa-miR-125b	CLIP-seq
MIRT815828	hsa-miR-1271	CLIP-seq
MIRT815829	hsa-miR-1298	CLIP-seq
MIRT815830	hsa-miR-15a	CLIP-seq
MIRT815831	hsa-miR-15b	CLIP-seq
MIRT815832	hsa-miR-16	CLIP-seq
MIRT815833	hsa-miR-182	CLIP-seq
MIRT815834	hsa-miR-195	CLIP-seq
MIRT815835	hsa-miR-214	CLIP-seq
MIRT815836	hsa-miR-2278	CLIP-seq
MIRT815837	hsa-miR-3151	CLIP-seq
MIRT815838	hsa-miR-3189-5p	CLIP-seq
MIRT815839	hsa-miR-3619-5p	CLIP-seq
MIRT815840	hsa-miR-3918	CLIP-seq
MIRT815841	hsa-miR-424	CLIP-seq
MIRT815842	hsa-miR-4266	CLIP-seq
MIRT815843	hsa-miR-4299	CLIP-seq
MIRT815844	hsa-miR-4319	CLIP-seq
MIRT815845	hsa-miR-4533	CLIP-seq
MIRT815846	hsa-miR-4682	CLIP-seq
MIRT815847	hsa-miR-4690-3p	CLIP-seq
MIRT815848	hsa-miR-4699-3p	CLIP-seq
MIRT815849	hsa-miR-4712-5p	CLIP-seq
MIRT815850	hsa-miR-4725-5p	CLIP-seq
MIRT815851	hsa-miR-4731-5p	CLIP-seq
MIRT815852	hsa-miR-4732-3p	CLIP-seq
MIRT815853	hsa-miR-4747-5p	CLIP-seq
MIRT815854	hsa-miR-4758-3p	CLIP-seq
MIRT815855	hsa-miR-4763-3p	CLIP-seq
MIRT815856	hsa-miR-4795-5p	CLIP-seq
MIRT815857	hsa-miR-486-3p	CLIP-seq
MIRT815858	hsa-miR-497	CLIP-seq
MIRT815859	hsa-miR-504	CLIP-seq
MIRT815860	hsa-miR-508-5p	CLIP-seq
MIRT815861	hsa-miR-5095	CLIP-seq
MIRT815862	hsa-miR-512-3p	CLIP-seq
MIRT815863	hsa-miR-640	CLIP-seq
MIRT815864	hsa-miR-664	CLIP-seq
MIRT815865	hsa-miR-670	CLIP-seq
MIRT815866	hsa-miR-720	CLIP-seq
MIRT815867	hsa-miR-761	CLIP-seq
MIRT815868	hsa-miR-765	CLIP-seq
MIRT815869	hsa-miR-770-5p	CLIP-seq
MIRT815870	hsa-miR-96	CLIP-seq
MIRT1941321	hsa-miR-1972	CLIP-seq
MIRT815836	hsa-miR-2278	CLIP-seq
MIRT1941322	hsa-miR-27a	CLIP-seq
MIRT1941323	hsa-miR-27b	CLIP-seq
MIRT1941324	hsa-miR-296-5p	CLIP-seq
MIRT1941325	hsa-miR-300	CLIP-seq
MIRT1941326	hsa-miR-361-3p	CLIP-seq
MIRT1941327	hsa-miR-3661	CLIP-seq
MIRT1941328	hsa-miR-370	CLIP-seq
MIRT1941329	hsa-miR-381	CLIP-seq
MIRT815840	hsa-miR-3918	CLIP-seq
MIRT1941330	hsa-miR-4252	CLIP-seq
MIRT1941331	hsa-miR-4264	CLIP-seq
MIRT1941332	hsa-miR-4436a	CLIP-seq
MIRT1941333	hsa-miR-4704-3p	CLIP-seq
MIRT1941334	hsa-miR-4717-5p	CLIP-seq
MIRT1941335	hsa-miR-4724-5p	CLIP-seq
MIRT1941336	hsa-miR-4733-3p	CLIP-seq
MIRT1941337	hsa-miR-492	CLIP-seq
MIRT1941338	hsa-miR-513a-5p	CLIP-seq
MIRT1941339	hsa-miR-577	CLIP-seq
MIRT1941340	hsa-miR-624	CLIP-seq
MIRT1941341	hsa-miR-631	CLIP-seq
MIRT815864	hsa-miR-664	CLIP-seq
MIRT815825	hsa-miR-1207-5p	CLIP-seq
MIRT2180086	hsa-miR-1254	CLIP-seq
MIRT815826	hsa-miR-125a-5p	CLIP-seq
MIRT815827	hsa-miR-125b	CLIP-seq
MIRT2180087	hsa-miR-1266	CLIP-seq
MIRT815829	hsa-miR-1298	CLIP-seq
MIRT2180088	hsa-miR-1915	CLIP-seq
MIRT1941321	hsa-miR-1972	CLIP-seq
MIRT2180089	hsa-miR-200b	CLIP-seq
MIRT2180090	hsa-miR-200c	CLIP-seq
MIRT1941322	hsa-miR-27a	CLIP-seq
MIRT1941323	hsa-miR-27b	CLIP-seq
MIRT2180091	hsa-miR-3116	CLIP-seq
MIRT2180092	hsa-miR-3127-5p	CLIP-seq
MIRT815837	hsa-miR-3151	CLIP-seq
MIRT2180093	hsa-miR-3153	CLIP-seq
MIRT1941326	hsa-miR-361-3p	CLIP-seq
MIRT2180094	hsa-miR-3620	CLIP-seq
MIRT2180095	hsa-miR-3690	CLIP-seq
MIRT1941328	hsa-miR-370	CLIP-seq
MIRT2180096	hsa-miR-378	CLIP-seq
MIRT2180097	hsa-miR-378b	CLIP-seq
MIRT2180098	hsa-miR-378c	CLIP-seq
MIRT2180099	hsa-miR-378d	CLIP-seq
MIRT2180100	hsa-miR-378e	CLIP-seq
MIRT2180101	hsa-miR-378f	CLIP-seq
MIRT2180102	hsa-miR-378h	CLIP-seq
MIRT2180103	hsa-miR-378i	CLIP-seq
MIRT815840	hsa-miR-3918	CLIP-seq
MIRT2180104	hsa-miR-3925-3p	CLIP-seq
MIRT2180105	hsa-miR-422a	CLIP-seq
MIRT1941330	hsa-miR-4252	CLIP-seq
MIRT815842	hsa-miR-4266	CLIP-seq
MIRT2180106	hsa-miR-4271	CLIP-seq
MIRT815844	hsa-miR-4319	CLIP-seq
MIRT2180107	hsa-miR-4512	CLIP-seq
MIRT2180108	hsa-miR-4518	CLIP-seq
MIRT815845	hsa-miR-4533	CLIP-seq
MIRT2180109	hsa-miR-4646-5p	CLIP-seq
MIRT2180110	hsa-miR-4650-5p	CLIP-seq
MIRT2180111	hsa-miR-4668-5p	CLIP-seq
MIRT2180112	hsa-miR-4685-5p	CLIP-seq
MIRT815848	hsa-miR-4699-3p	CLIP-seq
MIRT815849	hsa-miR-4712-5p	CLIP-seq
MIRT1941334	hsa-miR-4717-5p	CLIP-seq
MIRT1941335	hsa-miR-4724-5p	CLIP-seq
MIRT2180113	hsa-miR-4725-3p	CLIP-seq
MIRT2180114	hsa-miR-4726-3p	CLIP-seq
MIRT815853	hsa-miR-4747-5p	CLIP-seq
MIRT815855	hsa-miR-4763-3p	CLIP-seq
MIRT2180115	hsa-miR-4773	CLIP-seq
MIRT2180116	hsa-miR-4794	CLIP-seq
MIRT815856	hsa-miR-4795-5p	CLIP-seq
MIRT815857	hsa-miR-486-3p	CLIP-seq
MIRT815861	hsa-miR-5095	CLIP-seq
MIRT1941338	hsa-miR-513a-5p	CLIP-seq
MIRT2180117	hsa-miR-626	CLIP-seq
MIRT815863	hsa-miR-640	CLIP-seq
MIRT815864	hsa-miR-664	CLIP-seq
MIRT2180118	hsa-miR-7	CLIP-seq
MIRT2180119	hsa-miR-766	CLIP-seq
MIRT2180120	hsa-miR-769-5p	CLIP-seq
MIRT815869	hsa-miR-770-5p	CLIP-seq
MIRT2384740	hsa-miR-1202	CLIP-seq
MIRT2384741	hsa-miR-3065-3p	CLIP-seq
MIRT2384742	hsa-miR-3194-5p	CLIP-seq
MIRT2384743	hsa-miR-3972	CLIP-seq
MIRT1941331	hsa-miR-4264	CLIP-seq
MIRT2384744	hsa-miR-4286	CLIP-seq
MIRT1941333	hsa-miR-4704-3p	CLIP-seq
MIRT2384740	hsa-miR-1202	CLIP-seq
MIRT2483479	hsa-miR-1233	CLIP-seq
MIRT2483480	hsa-miR-1253	CLIP-seq
MIRT2483481	hsa-miR-1295	CLIP-seq
MIRT2483482	hsa-miR-1296	CLIP-seq
MIRT2483483	hsa-miR-138	CLIP-seq
MIRT2483484	hsa-miR-141	CLIP-seq
MIRT815830	hsa-miR-15a	CLIP-seq
MIRT815831	hsa-miR-15b	CLIP-seq
MIRT815832	hsa-miR-16	CLIP-seq
MIRT2483485	hsa-miR-185	CLIP-seq
MIRT2180088	hsa-miR-1915	CLIP-seq
MIRT815834	hsa-miR-195	CLIP-seq
MIRT2483486	hsa-miR-200a	CLIP-seq
MIRT815835	hsa-miR-214	CLIP-seq
MIRT815836	hsa-miR-2278	CLIP-seq
MIRT1941324	hsa-miR-296-5p	CLIP-seq
MIRT1941325	hsa-miR-300	CLIP-seq
MIRT2483487	hsa-miR-3064-3p	CLIP-seq
MIRT2384741	hsa-miR-3065-3p	CLIP-seq
MIRT2483488	hsa-miR-3125	CLIP-seq
MIRT815838	hsa-miR-3189-5p	CLIP-seq
MIRT2384742	hsa-miR-3194-5p	CLIP-seq
MIRT2483489	hsa-miR-3200-3p	CLIP-seq
MIRT1941326	hsa-miR-361-3p	CLIP-seq
MIRT815839	hsa-miR-3619-5p	CLIP-seq
MIRT2483490	hsa-miR-3622b-5p	CLIP-seq
MIRT2483491	hsa-miR-3652	CLIP-seq
MIRT1941327	hsa-miR-3661	CLIP-seq
MIRT1941329	hsa-miR-381	CLIP-seq
MIRT2483492	hsa-miR-3914	CLIP-seq
MIRT2483493	hsa-miR-3916	CLIP-seq
MIRT815840	hsa-miR-3918	CLIP-seq
MIRT2483494	hsa-miR-3940-5p	CLIP-seq
MIRT2384743	hsa-miR-3972	CLIP-seq
MIRT815841	hsa-miR-424	CLIP-seq
MIRT1941331	hsa-miR-4264	CLIP-seq
MIRT2483495	hsa-miR-4274	CLIP-seq
MIRT2384744	hsa-miR-4286	CLIP-seq
MIRT2483496	hsa-miR-4306	CLIP-seq
MIRT2483497	hsa-miR-4422	CLIP-seq
MIRT2483498	hsa-miR-4430	CLIP-seq
MIRT1941332	hsa-miR-4436a	CLIP-seq
MIRT2483499	hsa-miR-4438	CLIP-seq
MIRT2483500	hsa-miR-4456	CLIP-seq
MIRT2483501	hsa-miR-4493	CLIP-seq
MIRT2483502	hsa-miR-4505	CLIP-seq
MIRT2483503	hsa-miR-4507	CLIP-seq
MIRT2180107	hsa-miR-4512	CLIP-seq
MIRT2483504	hsa-miR-4635	CLIP-seq
MIRT2483505	hsa-miR-4639-3p	CLIP-seq
MIRT2483506	hsa-miR-4644	CLIP-seq
MIRT2180112	hsa-miR-4685-5p	CLIP-seq
MIRT1941333	hsa-miR-4704-3p	CLIP-seq
MIRT2483507	hsa-miR-4709-3p	CLIP-seq
MIRT815851	hsa-miR-4731-5p	CLIP-seq
MIRT1941336	hsa-miR-4733-3p	CLIP-seq
MIRT2483508	hsa-miR-4747-3p	CLIP-seq
MIRT815854	hsa-miR-4758-3p	CLIP-seq
MIRT2180115	hsa-miR-4773	CLIP-seq
MIRT2483509	hsa-miR-4781-3p	CLIP-seq
MIRT2180116	hsa-miR-4794	CLIP-seq
MIRT2483510	hsa-miR-4802-5p	CLIP-seq
MIRT1941337	hsa-miR-492	CLIP-seq
MIRT815858	hsa-miR-497	CLIP-seq
MIRT2483511	hsa-miR-505	CLIP-seq
MIRT2483512	hsa-miR-516a-3p	CLIP-seq
MIRT1941340	hsa-miR-624	CLIP-seq
MIRT1941341	hsa-miR-631	CLIP-seq
MIRT815866	hsa-miR-720	CLIP-seq
MIRT815867	hsa-miR-761	CLIP-seq
MIRT2180120	hsa-miR-769-5p	CLIP-seq
MIRT2384740	hsa-miR-1202	CLIP-seq
MIRT2483479	hsa-miR-1233	CLIP-seq
MIRT2483481	hsa-miR-1295	CLIP-seq
MIRT2483482	hsa-miR-1296	CLIP-seq
MIRT2483484	hsa-miR-141	CLIP-seq
MIRT2483485	hsa-miR-185	CLIP-seq
MIRT2483486	hsa-miR-200a	CLIP-seq
MIRT815836	hsa-miR-2278	CLIP-seq
MIRT1941324	hsa-miR-296-5p	CLIP-seq
MIRT1941325	hsa-miR-300	CLIP-seq
MIRT2483487	hsa-miR-3064-3p	CLIP-seq
MIRT2384741	hsa-miR-3065-3p	CLIP-seq
MIRT2384742	hsa-miR-3194-5p	CLIP-seq
MIRT2483489	hsa-miR-3200-3p	CLIP-seq
MIRT2483490	hsa-miR-3622b-5p	CLIP-seq
MIRT1941327	hsa-miR-3661	CLIP-seq
MIRT1941329	hsa-miR-381	CLIP-seq
MIRT2483492	hsa-miR-3914	CLIP-seq
MIRT2483494	hsa-miR-3940-5p	CLIP-seq
MIRT2384743	hsa-miR-3972	CLIP-seq
MIRT1941331	hsa-miR-4264	CLIP-seq
MIRT2483495	hsa-miR-4274	CLIP-seq
MIRT2384744	hsa-miR-4286	CLIP-seq
MIRT2483496	hsa-miR-4306	CLIP-seq
MIRT2483497	hsa-miR-4422	CLIP-seq
MIRT1941332	hsa-miR-4436a	CLIP-seq
MIRT2483501	hsa-miR-4493	CLIP-seq
MIRT2483503	hsa-miR-4507	CLIP-seq
MIRT2180107	hsa-miR-4512	CLIP-seq
MIRT2483504	hsa-miR-4635	CLIP-seq
MIRT2483506	hsa-miR-4644	CLIP-seq
MIRT1941333	hsa-miR-4704-3p	CLIP-seq
MIRT1941336	hsa-miR-4733-3p	CLIP-seq
MIRT2483508	hsa-miR-4747-3p	CLIP-seq
MIRT2180115	hsa-miR-4773	CLIP-seq
MIRT2483509	hsa-miR-4781-3p	CLIP-seq
MIRT2180116	hsa-miR-4794	CLIP-seq
MIRT2483510	hsa-miR-4802-5p	CLIP-seq
MIRT1941337	hsa-miR-492	CLIP-seq
MIRT2483511	hsa-miR-505	CLIP-seq
MIRT1941339	hsa-miR-577	CLIP-seq
MIRT1941340	hsa-miR-624	CLIP-seq
MIRT1941341	hsa-miR-631	CLIP-seq
MIRT2180120	hsa-miR-769-5p	CLIP-seq

Show/Hide all(61)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000278	Process	Mitotic cell cycle	IEA
GO:0001558	Process	Regulation of cell growth	IMP	19815555
GO:0001701	Process	In utero embryonic development	IEA
GO:0001894	Process	Tissue homeostasis	IEA
GO:0002574	Process	Thrombocyte differentiation	IEA
GO:0003682	Function	Chromatin binding	IDA	19815555
GO:0003682	Function	Chromatin binding	IEA
GO:0004843	Function	Cysteine-type deubiquitinase activity	IBA
GO:0004843	Function	Cysteine-type deubiquitinase activity	IDA	18757409, 19188440, 19815555, 20436459, 24703950
GO:0004843	Function	Cysteine-type deubiquitinase activity	IEA
GO:0004843	Function	Cysteine-type deubiquitinase activity	TAS
GO:0005515	Function	Protein binding	IPI	9528852, 19117993, 19188440, 19615732, 19815555, 20436459, 22897849, 24211834, 25451922, 27705803, 28614305, 33961781, 35512704
GO:0005634	Component	Nucleus	IDA	18757409, 19188440, 19815555, 24703950
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	9528852
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	18757409, 19188440, 24703950
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0006325	Process	Chromatin organization	IEA
GO:0006508	Process	Proteolysis	IEA
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008233	Function	Peptidase activity	NAS	9528852
GO:0008234	Function	Cysteine-type peptidase activity	IEA
GO:0008283	Process	Cell population proliferation	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	TAS	9528852
GO:0010467	Process	Gene expression	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0016579	Process	Protein deubiquitination	IDA	18757409, 19815555
GO:0016579	Process	Protein deubiquitination	TAS
GO:0016787	Function	Hydrolase activity	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030218	Process	Erythrocyte differentiation	IEA
GO:0030223	Process	Neutrophil differentiation	IEA
GO:0030851	Process	Granulocyte differentiation	IEA
GO:0031490	Function	Chromatin DNA binding	IEA
GO:0031507	Process	Heterochromatin formation	IBA
GO:0033028	Process	Myeloid cell apoptotic process	IEA
GO:0035517	Component	PR-DUB complex	IDA	20436459, 25451922
GO:0035517	Component	PR-DUB complex	IPI	20436459
GO:0035520	Process	Monoubiquitinated protein deubiquitination	IDA	24703950
GO:0035726	Process	Common myeloid progenitor cell proliferation	IEA
GO:0036211	Process	Protein modification process	NAS	9528852
GO:0036344	Process	Platelet morphogenesis	IEA
GO:0043249	Process	Erythrocyte maturation	IEA
GO:0043363	Process	Nucleate erythrocyte differentiation	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	25451922
GO:0050727	Process	Regulation of inflammatory response	IEA
GO:0051726	Process	Regulation of cell cycle	IMP	19188440
GO:0061484	Process	Hematopoietic stem cell homeostasis	IEA
GO:0061519	Process	Macrophage homeostasis	IEA
GO:0070050	Process	Neuron cellular homeostasis	IEA
GO:0070661	Process	Leukocyte proliferation	IEA
GO:0071108	Process	Protein K48-linked deubiquitination	IMP	19188440
GO:0140950	Function	Histone H2A deubiquitinase activity	IMP	25451922
GO:1900015	Process	Regulation of cytokine production involved in inflammatory response	IEA
GO:1903955	Process	Positive regulation of protein targeting to mitochondrion	HMP	24270810

MIM	HGNC	e!Ensembl
603089	950	ENSG00000163930

Protein

UniProt ID

Q92560

Protein name

Ubiquitin carboxyl-terminal hydrolase BAP1 (EC 3.4.19.12) (BRCA1-associated protein 1) (Cerebral protein 6)

Protein function

Deubiquitinating enzyme that plays a key role in chromatin by mediating deubiquitination of histone H2A and HCFC1 (PubMed:12485996, PubMed:18757409, PubMed:20436459, PubMed:25451922, PubMed:35051358). Catalytic component of the polycomb repressi

PDB

7VPW , 8H1T , 8SVF

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01088	Peptidase_C12	5 → 215	Ubiquitin carboxyl-terminal hydrolase, family 1	Domain
PF18031	UCH_C	643 → 688	Ubiquitin carboxyl-terminal hydrolases	Domain

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in testis, placenta and ovary (PubMed:9528852). Expressed in breast (PubMed:9528852). levels in the placenta increase over the course of pregnancy (PubMed:34170818). {ECO:0000269|PubMed:34170818, ECO:0000269|PubMed:952

Sequence

MNKGWLELESDPGLFTLLVEDFGVKGVQVEEIYDLQSKCQGPVYGFIFLFKWIEERRSRR
KVSTLVDDTSVIDDDIVNNMFFAHQLIPNSCATHALLSVLLNCSSVDLGPTLSRMKDFTK
GFSPESKGYAIGNAPELAKAHNSHARPEPRHLPEKQNGLSAVRTMEAFHFVSYVPITGRL
FELDGLKVYPIDHGPWGEDEEWTDKARRVIMERIGLATAGEPYHDIRFNLMAVVPDRRIK
YEARLHVLKVNRQTVLEALQQLIRVTQPELIQTHKSQESQLPEESKSASNKSPLVLEANR
APAASEGNHTDGAEEAAGSCAQAPSHSPPNKPKLVVKPPGSSLNGVHPNPTPIVQRLPAF
LDNHNYAKSPMQEEEDLAAGVGRSRVPVRPPQQYSDDEDDYEDDEEDDVQNTNSALRYKG
KGTGKPGALSGSADGQLSVLQPNTINVLAEKLKESQKDLSIPLSIKTSSGAGSPAVAVPT
HSQPSPTPSNESTDTASEIGSAFNSPLRSPIRSANPTRPSSPVTSHISKVLFGEDDSLLR
VDCIRYNRAVRDLGPVISTGLLHLAEDGVLSPLALTEGGKGSSPSIRPIQGSQGSSSPVE
KEVVEATDSREKTGMVRPGEPLSGEKYSPKELLALLKCVEAEIANYEACLKEEVEKRKKF
KIDDQRRTHNYDEFICTFISMLAQEGMLANLVEQNISVRRRQGVSIGRLHKQRKPDRRKR
SRPYKAKRQ

Sequence length

729

Interactions

View interactions

	KEGG		Reactome
	Polycomb repressive complex		UCH proteinases Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks

Show/Hide Causal Diseases (4)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
neoplasm	Neoplasm	rs1559587104	N/A
TUMOR PREDISPOSITION SYNDROME	BAP1-related tumor predisposition syndrome	rs1553645591, rs869312757, rs1578225793, rs1553645729, rs1559586374, rs1060503735, rs1578225864, rs200156887, rs1553645725, rs878854741, rs1578218644, rs1553645492, rs1060503727, rs1705034786, rs587776877 View all (72 more)	N/A
Multiple myeloma	multiple myeloma	rs1478603808	N/A
Uveal Melanoma	uveal melanoma	rs1559588632	N/A

Show/Hide Unknown Diseases (3)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Adenocarcinoma	adenoid cystic carcinoma	N/A	N/A	ClinVar
hereditary cancer	Hereditary cancer	N/A	N/A	ClinVar
Medulloblastoma	medulloblastoma	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (143)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
AA amyloidosis	Associate	26680512
Adenocarcinoma	Associate	32158967, 33112113
Adenocarcinoma of Lung	Associate	21941004, 27553041
Adenoma Pleomorphic	Associate	37594632
Adenosarcoma of the uterus	Inhibit	36138078
Amyotrophic Lateral Sclerosis	Associate	38056214
Bile Duct Diseases	Associate	34987644
Bile Duct Neoplasms	Associate	31122820
Biliary Tract Neoplasms	Associate	30395583, 32012241, 34145795
Birt Hogg Dube Syndrome	Associate	38456787
Breast Neoplasms	Associate	22889334, 24243779, 25225064, 26022455, 26191197, 26409435, 26419610, 28170043, 29528717, 30716094, 35381901, 36754982
Calcinosis	Associate	25753955
Calcinosis Cutis	Associate	22545102, 25058347, 28327121, 29317634, 29554022, 30306561, 32131485, 32665993, 35341390, 36641486
Calcinosis Cutis	Inhibit	28823399
Cancer Pain	Associate	31706282, 37607989
Carcinogenesis	Associate	27813512, 28614305, 37543638
Carcinogenesis	Inhibit	29166932
Carcinoma	Associate	29528717
Carcinoma Basal Cell	Associate	26409435, 28062663, 34227091
Carcinoma Hepatocellular	Associate	22997493, 29018224, 29528717, 29778232, 31862487, 35898502
Carcinoma Merkel Cell	Associate	26743471, 26981779
Carcinoma Mucoepidermoid	Associate	28327999
Carcinoma Non Small Cell Lung	Associate	27447750, 33529461
Carcinoma Pancreatic Ductal	Associate	24293293, 25184537, 26982343, 29778232
Carcinoma Papillary	Associate	23585512, 30171198
Carcinoma Renal Cell	Inhibit	22683710, 34591877
Carcinoma Renal Cell	Associate	23036577, 23333114, 23620406, 23684012, 23709298, 23867514, 24029645, 24158655, 24243779, 24382589, 24821879, 25124064, 25465300, 25826081, 26111976 View all (61 more)
Carcinoma Signet Ring Cell	Associate	35618879
Cholangiocarcinoma	Associate	24185509, 24243779, 24867389, 25536104, 26982343, 28122578, 29778232, 29848569, 30170977, 31122820, 32293336, 32641744, 33093002, 33200197, 33529461 View all (7 more)
Cholangiocarcinoma	Inhibit	26765459, 30305612
Cholestasis Intrahepatic	Associate	29778232
Choroidal Effusions	Associate	32678499
Chromosome Aberrations	Associate	28614305
Clear cell metastatic renal cell carcinoma	Associate	33045147
Colonic Neoplasms	Associate	30716094, 39984049
Colorectal Neoplasms	Associate	33529461, 36356413, 36754982, 39984049
Death	Stimulate	28408295
Death	Inhibit	30716094
Developmental Disabilities	Associate	35051358
Diabetes Mellitus Type 2	Associate	24455749
Disease	Associate	26774355, 37042570
DNA Virus Infections	Associate	23550303
Dysplastic Nevus Syndrome	Associate	26154183
Encephalitis Herpes Simplex	Associate	31285370
Esophageal Neoplasms	Associate	33529461
Esophageal Squamous Cell Carcinoma	Associate	25839328, 26081045, 29866946
Familial renal cell carcinoma	Associate	23709298
Fibrolamellar hepatocellular carcinoma	Associate	31862487, 37137901
Gallbladder Neoplasms	Associate	30395583, 31122820, 33328484
Genetic Diseases Inborn	Associate	30001711
Glioblastoma	Associate	23036577
Glioma	Associate	26191197
Glucosephosphate Dehydrogenase Deficiency	Associate	38092371
Glycogen Storage Disease IIIC	Associate	39378214
Hematologic Neoplasms	Associate	36754982
Hereditary Breast and Ovarian Cancer Syndrome	Associate	30716094
Hereditary Renal Cancer Associated 1	Associate	26683624
Hypoxia	Associate	36656861
Hypoxia Brain	Associate	36656861
Kidney Failure Chronic	Stimulate	23036577
Kidney Neoplasms	Associate	23867514, 26484545, 30548481, 30992312, 31034483, 32083993, 35637285, 38456787, 40251399
Klatskin Tumor	Associate	31122820
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	26118501
Leukemia Myelomonocytic Chronic	Associate	29797327
Li Fraumeni Syndrome	Associate	29769598
Liposarcoma	Associate	29528717
Liver Diseases	Associate	31862487
Lung Neoplasms	Associate	21941004, 23977234, 25970771, 26191197, 29528717, 35477182
Lymphatic Metastasis	Associate	26765459, 27553041, 30305612, 34857909
MASS syndrome	Associate	32083993
Melanoma	Associate	22545102, 22613358, 22825583, 22889334, 26106605, 26154183, 26683624, 27181379, 28062663, 28283772, 28404968, 28823399, 28903138, 29371009, 29522175 View all (15 more)
Melanoma	Inhibit	37474004
Melanoma Amelanotic	Associate	23977234
Melanoma Cutaneous Malignant	Associate	22545102, 22889334, 22935333, 23550303, 23684012, 23977234, 24243779, 25787093, 25803691, 26154183, 26409435, 26719535, 27181379, 27640074, 28062663 View all (6 more)
Meningioma	Associate	21941004, 22889334, 26409435, 28062663, 29528717, 33087175, 34628055, 36641486
Mesothelioma	Associate	21874000, 22065079, 22889334, 23550303, 23963927, 24243779, 25380601, 25803691, 25970771, 26022455, 26191197, 26288396, 26364129, 26409435, 26683624 View all (30 more)
Mesothelioma	Inhibit	26226841, 33399341, 34591877
Mesothelioma Malignant	Associate	21642991, 21874000, 22321046, 22613358, 22825583, 22935333, 23963927, 24128712, 25380601, 25468148, 25514803, 25658628, 25889843, 25970771, 26011428 View all (51 more)
Mesothelioma Malignant	Inhibit	33045147
Microsatellite Instability	Associate	36356413
Migraine without Aura	Associate	22545102
Monosomy	Associate	25147369
Monosomy	Inhibit	28810145, 37240204
Mouth Diseases	Associate	22935333, 31706282
Necrosis	Stimulate	27553041
Necrosis	Associate	30660076
Neoplasm Metastasis	Associate	21051595, 24633195, 25147369, 25536104, 26419610, 28391358, 28823399, 29327717, 30073324, 30306561, 30477459, 31173190, 31895446, 32522791, 33208912 View all (11 more)
Neoplasm Metastasis	Inhibit	26611647, 28404968, 30400891, 36788079
Neoplasm Metastasis	Stimulate	33421325
Neoplasms	Inhibit	19815555, 23709298, 23887304, 24211834, 24821879, 25970771, 26011428, 26611647, 26765459, 26933176, 27553041, 28389374, 28404968, 28614305, 28935764 View all (15 more)
Neoplasms	Associate	21874000, 21874003, 21941004, 21956388, 22065079, 22321046, 22367297, 22545102, 22613358, 22683710, 22825583, 22889334, 22935333, 23036577, 23333114 View all (140 more)
Neoplasms Glandular and Epithelial	Associate	31685964
Neoplasms Mesothelial	Associate	32036091, 33045147
Neoplastic Syndromes Hereditary	Associate	21941004, 22367297, 24243779, 26683624, 27751355, 29166932, 30883995, 33093002
Neuroblastoma	Associate	37543638
Neurodegenerative Diseases	Associate	27640074
Nevus	Associate	26154183, 29371009, 35052351
Nevus Blue	Associate	24705312, 27057633, 28409567
Nevus Epithelioid and Spindle Cell	Associate	22367297, 24705312, 31323388
Nevus Intradermal	Associate	22935333
Nevus Pigmented	Associate	31891422, 34227091, 35052351
Obesity	Associate	24455749
Oncocytoma renal	Associate	25465300
Ovarian Neoplasms	Associate	26718727, 33741265, 35443055
Pancreatic Intraductal Neoplasms	Associate	28776573
Pancreatic Neoplasms	Associate	24293293, 28283772
Papillomavirus Infections	Associate	31437519
Paraganglioma	Associate	22889334
Paraneoplastic Syndromes Ocular	Associate	22545102, 26154183
Parkinson Disease	Associate	27640074, 32139796
Peritoneal Diseases	Associate	30777124
Peritoneal Neoplasms	Associate	27813512, 37042570, 38092371
Peritoneal Neoplasms	Inhibit	31570769
Peritonitis	Associate	26493618, 28034829, 28910456, 30001711, 30777124, 30862609, 30914057, 31570769, 37042570, 37453150, 38092371
Personality Disorders	Associate	29018224
Pleural Diseases	Associate	25889843
Pleural Effusion	Associate	29053210, 29656754, 32678499
Prostatic Neoplasms	Associate	27718540, 32158967
Renal cell carcinoma 1	Associate	38456787
Renal Nutcracker Syndrome	Associate	24029645
Renal Tubular Acidosis Distal With Normal Red Cell Morphology	Associate	36115511
Rhabdoid Tumor	Associate	22683710, 26111976, 28170043
Rhabdoid Tumor Predisposition Syndrome 1	Associate	27553041
Salivary Duct Calculi	Inhibit	37594632
Sarcoma	Associate	22321046, 27422796
Schwartz Cohen Addad Lambert syndrome	Associate	31580399
Skin Neoplasms	Associate	23550303, 37607989
Small Cell Lung Carcinoma	Associate	26719535, 32669118, 35194152
Solitary Fibrous Tumor Pleural	Associate	31371807
Squamous Cell Carcinoma of Head and Neck	Associate	30548484
Stomach Neoplasms	Associate	26611647, 34145795
Syndrome	Associate	26719535
Thrombosis	Associate	32029730
Thymoma	Associate	24974848, 34622229
Thyroid Neoplasms	Associate	26774355
Uniparental disomy of chromosome 2	Associate	29530782
Urinary Bladder Neoplasms	Associate	25225064
Urinary Bladder Neoplasms	Inhibit	34591877
Uveal melanoma	Associate	21051595, 21874000, 21874003, 21941004, 22065079, 22889334, 22935333, 23550303, 23585512, 23887304, 23977234, 24128712, 24243779, 24423917, 24633195 View all (73 more)
Uveal melanoma	Inhibit	30716094, 34591877
Uveal Neoplasms	Associate	26409435
von Hippel Lindau Disease	Associate	23709298
Wilms Tumor	Associate	29528717

BAP1 (BRCA1 associated deubiquitinase 1)