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	8314
Gene name	BRCA1 associated deubiquitinase 1
Gene symbol	BAP1
Synonyms (NCBI Gene)	HUCEP-13KURISTPDS1UBM2UCHL2UVM2hucep-6
Chromosome	3
Chromosome location	3p21.1
Summary	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 assayWestern blottingqRT-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

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

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 (15)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Astrocytoma	Likely pathogenic	rs1705201387	RCV002272693	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
BAP1 Cancer Syndrome	Pathogenic	rs869025212	RCV000207031	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
BAP1-related disorder	Pathogenic	rs2471344251	RCV003971694	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
BAP1-related tumor predisposition syndrome	Likely pathogenic; Pathogenic	rs2153226523, rs2153228069, rs2153226204, rs2153226434, rs2153226499, rs2153226707, rs2153226742, rs2153227082, rs1327490224, rs2153227280, rs2153227460, rs2153227498, rs2153227660, rs1430317959, rs2153227786 View all (204 more)	RCV001379726 RCV001378650 RCV001384133 RCV001382800 RCV001389372 View all (234 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Clear cell carcinoma of kidney	Likely pathogenic; Pathogenic	rs9848343, rs775451516	RCV005925582 RCV005931963	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary cancer-predisposing syndrome	Likely pathogenic; Pathogenic	rs2153226523, rs2153227280, rs2153227933, rs1578230334, rs1705082679, rs2153227879, rs2153227978, rs2153228161, rs2153228628, rs2153227431, rs2153226489, rs1364087255, rs2153227652, rs2153226773, rs2153227653 View all (133 more)	RCV002413908 RCV004037660 RCV002329407 RCV005762298 RCV001525460 View all (149 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Kury-Isidor syndrome	Pathogenic; Likely pathogenic	rs2153228682, rs2153227652, rs2153227484, rs1351986946, rs1553645146, rs1578219056	RCV001839042 RCV001839045 RCV005025506 RCV003123570 RCV003492083 RCV005027685 RCV005036194 View all (2 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Malignant tumor of urinary bladder	Likely pathogenic; Pathogenic	rs1578221396, rs1559586168	RCV005922649 RCV005925525	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma	Likely pathogenic	rs2153227978	RCV005922608	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma, uveal, susceptibility to, 2	Pathogenic	rs2153227652, rs869025212, rs1351986946, rs1553645146, rs1578219056, rs397509413	RCV005025506 RCV002273820 RCV003492083 RCV005027685 RCV005036194 RCV002273840 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mesothelioma	Likely pathogenic; Pathogenic	rs1559589809	RCV005901673	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multiple myeloma	Likely pathogenic	rs1478603808	RCV000984101	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neoplasm	Pathogenic; Likely pathogenic	rs1559591264, rs2153227978, rs1559587104, rs1205668341	RCV006274238 RCV006274263 RCV004669097 RCV006274149	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Pathogenic; Likely pathogenic	rs2153228682, rs1559591264, rs1298276806, rs2153228340	RCV001374940 RCV001797187 RCV001797186 RCV001797185 RCV001797183	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Uveal melanoma	Pathogenic	rs1559588632	RCV000782130	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (48)

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.
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adenoid cystic carcinoma	Uncertain significance; -	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BAP1-associated neurodevelopmental disorder	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, BASAL CELL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, MUCOEPIDERMOID	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, RENAL CELL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLANGIOCARCINOMA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLONIC NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ewing sarcoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL MELANOMA	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ganglioglioma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC PREDISPOSITION TO DISEASE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEAD AND NECK NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary cancer	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIPOMA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Medulloblastoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELANOMA, CUTANEOUS MALIGNANT	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENINGIOMA	—	CTD, Orphanet CTD, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MESOTHELIOMA, MALIGNANT	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NASOPHARYNGEAL CARCINOMA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARAGANGLIOMA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STOMACH NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TESTICULAR NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TUMOR PREDISPOSITION SYNDROME 1	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URINARY BLADDER NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

BAP1 (BRCA1 associated deubiquitinase 1)