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

4964

Show/Hide Causal Diseases (15)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Astrocytoma	Likely pathogenic	rs1705201387	RCV002272693
BAP1 Cancer Syndrome	Pathogenic	rs869025212	RCV000207031
BAP1-related disorder	Pathogenic	rs2471344251	RCV003971694
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 RCV001383122 RCV001390650 RCV001385926 RCV001386836 RCV001383013 RCV001387046 RCV001384517 RCV001380872 RCV001386298 RCV001387216 RCV001384981 RCV001385933 RCV001386394 RCV001387199 RCV001388695 RCV005095208 RCV001869606 RCV001869801 RCV001923847 RCV001881372 RCV002015432 RCV001941722 RCV001953335 RCV001901917 RCV001938676 RCV001958198 RCV001929796 RCV001919446 RCV001902968 RCV002025618 RCV002025871 RCV001990783 RCV001926649 RCV001990155 RCV002004860 RCV001939589 RCV002009476 RCV001922775 RCV002002537 RCV001946952 RCV001953451 RCV001962989 RCV001956333 RCV001954993 RCV001979859 RCV002012557 RCV002272634 RCV002289399 RCV003528374 RCV003528377 RCV003528389 RCV005051973 RCV003528395 RCV004785684 RCV003336718 RCV005098021 RCV004059455 RCV002466842 RCV002594290 RCV002690408 RCV002700135 RCV002776108 RCV002819342 RCV002843663 RCV002816626 RCV002816519 RCV002830146 RCV002852683 RCV002913575 RCV003045215 RCV003026995 RCV003028946 RCV003038153 RCV003051986 RCV003044402 RCV003040694 RCV000205098 RCV000464745 RCV001055374 RCV000233712 RCV003140378 RCV003140394 RCV003336832 RCV003322666 RCV003334477 RCV003334518 RCV003334525 RCV003334661 RCV003334665 RCV003334687 RCV003334764 RCV003334768 RCV003474309 RCV003464973 RCV003464974 RCV003464976 RCV003464977 RCV003464978 RCV003456334 RCV003452218 RCV003452219 RCV003456342 RCV003456343 RCV003528548 RCV003528576 RCV003529131 RCV003529047 RCV003529490 RCV003529666 RCV000360294 RCV003527965 RCV003527907 RCV003527938 RCV003643693 RCV003643664 RCV003643749 RCV003643765 RCV003643852 RCV003643790 RCV003644191 RCV003644279 RCV003644302 RCV003644164 RCV003644453 RCV003644478 RCV003642809 RCV003853315 RCV004442563 RCV004573974 RCV004589245 RCV004589326 RCV004589327 RCV000023234 RCV000023235 RCV000023236 RCV000023237 RCV000023240 RCV000471043 RCV000475581 RCV000463331 RCV000468532 RCV000459945 RCV000477262 RCV000463679 RCV000472085 RCV000466637 RCV000457289 RCV000457401 RCV000763519 RCV001386297 RCV000501537 RCV002525137 RCV000532198 RCV000534674 RCV000540207 RCV000548712 RCV000547308 RCV000535623 RCV000527480 RCV000797144 RCV001205729 RCV000704139 RCV001044460 RCV001244797 RCV001036130 RCV003642898 RCV000649782 RCV000649799 RCV000649800 RCV000649771 RCV000649773 RCV000649786 RCV000649780 RCV000649785 RCV000649770 RCV003642910 RCV000685521 RCV000701946 RCV000700437 RCV000703700 RCV000698141 RCV000685909 RCV000695776 RCV000693425 RCV000691704 RCV000706178 RCV000708935 RCV000708936 RCV000820815 RCV001850964 RCV001202234 RCV000813152 RCV000805805 RCV000793275 RCV000818331 RCV000821594 RCV000807100 RCV000810213 RCV000818690 RCV000797473 RCV000811047 RCV000810902 RCV000808334 RCV000798337 RCV000049289 RCV000049291 RCV002549399 RCV001860626 RCV001213970 RCV003769600 RCV001048152 RCV001061861 RCV001069276 RCV001060105 RCV001044319 RCV001055828 RCV001035822 RCV003473726 RCV001221955 RCV001214995 RCV001214668 RCV001216166 RCV001208518 RCV001212556 RCV001208617 RCV001217399 RCV001228634 RCV001228907 RCV001225377 RCV001244612 RCV001246455 RCV001240245 RCV001228973 RCV001310120
Clear cell carcinoma of kidney	Likely pathogenic; Pathogenic	rs9848343, rs775451516	RCV005925582 RCV005931963
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 RCV001805402 RCV001805415 RCV001805522 RCV006362977 RCV005520633 RCV002407022 RCV003303488 RCV004043957 RCV002407288 RCV004603063 RCV002407180 RCV005520701 RCV002321459 RCV002328027 RCV002328097 RCV002326587 RCV002455165 RCV002349495 RCV002366718 RCV002342270 RCV002353576 RCV002355710 RCV002359883 RCV002364535 RCV002385119 RCV002376053 RCV002389897 RCV002410002 RCV002398833 RCV002398841 RCV002410643 RCV002392479 RCV002392526 RCV002407636 RCV002415038 RCV002428326 RCV002430923 RCV002417115 RCV002425519 RCV004603197 RCV004612235 RCV003167630 RCV005772416 RCV004948796 RCV002408896 RCV000567996 RCV000210121 RCV000521628 RCV003171407 RCV003176944 RCV003183853 RCV003176931 RCV003301685 RCV003301696 RCV004604935 RCV003368079 RCV003368081 RCV003384268 RCV003384274 RCV003384278 RCV003384286 RCV004950414 RCV000775247 RCV004950485 RCV003585931 RCV003585936 RCV004423885 RCV004519154 RCV004519157 RCV004519189 RCV003162259 RCV002326682 RCV001014205 RCV001027030 RCV003380581 RCV002341057 RCV001178156 RCV000562074 RCV002365669 RCV001013141 RCV002367645 RCV002356783 RCV002383963 RCV000574726 RCV000574374 RCV004948450 RCV003159904 RCV001189380 RCV004948449 RCV000569532 RCV000574790 RCV000574738 RCV000564709 RCV000574994 RCV000563598 RCV000583782 RCV000583023 RCV000582156 RCV002440352 RCV006367195 RCV005520322 RCV002424514 RCV004948542 RCV002358868 RCV003162973 RCV004948541 RCV003584695 RCV004601240 RCV004948618 RCV002352186 RCV002397465 RCV002369870 RCV003380680 RCV001011008 RCV001010314 RCV004027196 RCV000773878 RCV000772520 RCV000772808 RCV000772429 RCV000773829 RCV000776965 RCV001013750 RCV001025219 RCV001805895 RCV002397665 RCV002406825 RCV001010385 RCV001013957 RCV001012196 RCV001011976 RCV001010095 RCV001018587 RCV001024991 RCV001023691 RCV001019238 RCV001016120 RCV001019153 RCV001017984 RCV001024552 RCV001025690 RCV004950219 RCV001180717 RCV001189818 RCV001191257 RCV004601395 RCV002418740 RCV003584874 RCV004951420
Kury-Isidor syndrome	Pathogenic; Likely pathogenic	rs2153228682, rs2153227652, rs2153227484, rs1351986946, rs1553645146, rs1578219056	RCV001839042 RCV001839045 RCV005025506 RCV003123570 RCV003492083 RCV005027685 RCV005036194
Malignant tumor of urinary bladder	Likely pathogenic; Pathogenic	rs1578221396, rs1559586168	RCV005922649 RCV005925525
Melanoma	Likely pathogenic	rs2153227978	RCV005922608
Melanoma, uveal, susceptibility to, 2	Pathogenic	rs2153227652, rs869025212, rs1351986946, rs1553645146, rs1578219056, rs397509413	RCV005025506 RCV002273820 RCV003492083 RCV005027685 RCV005036194 RCV002273840
Mesothelioma	Likely pathogenic; Pathogenic	rs1559589809	RCV005901673
Multiple myeloma	Likely pathogenic	rs1478603808	RCV000984101
Neoplasm	Pathogenic; Likely pathogenic	rs1559591264, rs2153227978, rs1559587104, rs1205668341	RCV006274238 RCV006274263 RCV004669097 RCV006274149
Neurodevelopmental disorder	Pathogenic; Likely pathogenic	rs2153228682, rs1559591264, rs1298276806, rs2153228340	RCV001374940 RCV001797187 RCV001797186 RCV001797185 RCV001797183
Uveal melanoma	Pathogenic	rs1559588632	RCV000782130

Show/Hide Unknown Diseases (18)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign; Likely benign	rs35003777, rs146661777	RCV005895294 RCV005904341
Adenoid cystic carcinoma	Uncertain significance; -	rs747311942, rs1553645926	RCV004813117 RCV004813293
BAP1-associated neurodevelopmental disorder	Conflicting classifications of pathogenicity	rs1705222655	RCV001269477
Cervical cancer	Benign; Likely benign	rs146661777	RCV005904343
Ewing sarcoma	Conflicting classifications of pathogenicity	rs752536342	RCV000722041
Familial cancer of breast	Benign; Likely benign	rs35003777, rs146661777	RCV005895293 RCV005904340
Familial pancreatic carcinoma	Benign; Likely benign	rs146661777	RCV005904344
Ganglioglioma	Conflicting classifications of pathogenicity	rs771494475	RCV000761021
Gastric cancer	Uncertain significance	rs1553645130	RCV005900293
Hepatocellular carcinoma	Conflicting classifications of pathogenicity; Benign; Likely benign	rs535695655, rs200285587	RCV005895289 RCV005895291
Hereditary cancer	Conflicting classifications of pathogenicity	rs576538858, rs151308667, rs756472919, rs776606194, rs770778299, rs770422186, rs1221534458	RCV003492520 RCV004701319 RCV004698836 RCV005230414 RCV004701644 RCV005235437 RCV004698843
Malignant tumor of esophagus	Conflicting classifications of pathogenicity; Benign; Likely benign	rs535695655, rs200285587, rs146661777	RCV005895290 RCV005895292 RCV005904342
Medulloblastoma	Conflicting classifications of pathogenicity	rs201844078	RCV000761001
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs35003777, rs146661777	RCV005895297 RCV005904345
See cases	Conflicting classifications of pathogenicity	rs374928824, rs1705222655	RCV002252167 RCV003985491
Thymoma	Benign; Likely benign	rs146661777	RCV005904346
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	rs146661777	RCV005904347
Uterine corpus endometrial carcinoma	Benign; Likely benign; Uncertain significance	rs35003777, rs767064896	RCV005895298 RCV005902003

Show/Hide Text Mining Associations (143)

Disease Name	Relationship Type	References
Associations from Text MiningDisease 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)