Property Summary

NCBI Gene PubMed Count 141
Grant Count 47
R01 Count 33
Funding $5,101,729.13
PubMed Score 107.16
PubTator Score 226.09

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
lung cancer 1.100 0.022
subependymal giant cell astrocytoma -1.414 0.040

MLP Assay (5)

AID Type Active / Inconclusive / Inactive Description
436 screening 346 / 0 / 71191 HTS for BAP1 Enzyme inhibitors
714 confirmatory 12 / 0 / 30 BAP1 Enzyme inhibitors Dose Response Confirmation
753 confirmatory 23 / 20 / 266 BAP1 Enzyme inhibitors secondary assay confirmation
1068 confirmatory 6 / 0 / 29 BAP1 Enzyme inhibitors AMC/RHO Comparison
1134 confirmatory 32 / 0 / 0 BAP1 Enzyme Inhibitors Dose Response Confirmation and Selectivity Assay using ubiquitin-rhodamine(110)-glycine

Gene RIF (117)

PMID Text
27116551 mutation is the most significant prognostic predictor of metastasis in polyploidy uveal melanoma
27067777 loss of BAP1 expression can be used to very strongly support a pathological diagnosis of abdominal mesothelioma over serous carcinoma
26982343 We conclude that, in contrast to intrahepatic cholangiocarcinoma, loss of expression of BAP1 occurs very rarely in pancreatic ductal adenocarcinoma. Therefore BAP1 inactivation is unlikely to be a frequent driver abnormality in pancreatic adenocarcinoma
26900815 BAP1 immunohistochemistry is relatively insensitive in the context of differential diagnosis of sarcomatous and desmoplastic mesotheliomas.
26774355 identifies a new BAP1 mutation, further highlights the relevance of BAP1 as a clinically important tumor suppressor gene, and broadens the range of cancers associated with BAP1 inactivation
26765459 absent expression in intrahepatic cholangiocarcinoma associated with improved prognosis, higher histological grade
26739236 This study showed that the BAP1 C-terminal extension is important for H2A deubiquitination but needs to be activated by the DEUBAD domains of ASXL1 or its relatives.
26719535 Many tumors harboring BAP1 germline mutations were associated with BAP1 syndrome, including mesothelioma and ocular/cutaneous melanomas, as well as renal, breast, lung, gastric, and basal cell carcinomas.
26701415 Whole-exome sequencing of these lesions revealed the acquisition of BAP1 and TP53 mutations during tumor evolution, thereby unmasking clonal heterogeneity and allowing the identification of cooperating genes within the same tumor.
26683624 once a proband is identified, extended analyses of these kindreds, using genomic and genealogical studies to identify the most recent common ancestor, allow investigators to uncover additional branches of the family that may carry BAP1 mutations.
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AA Sequence

MNKGWLELESDPGLFTLLVEDFGVKGVQVEEIYDLQSKCQGPVYGFIFLFKWIEERRSRRKVSTLVDDTS      1 - 70
VIDDDIVNNMFFAHQLIPNSCATHALLSVLLNCSSVDLGPTLSRMKDFTKGFSPESKGYAIGNAPELAKA     71 - 140
HNSHARPEPRHLPEKQNGLSAVRTMEAFHFVSYVPITGRLFELDGLKVYPIDHGPWGEDEEWTDKARRVI    141 - 210
MERIGLATAGEPYHDIRFNLMAVVPDRRIKYEARLHVLKVNRQTVLEALQQLIRVTQPELIQTHKSQESQ    211 - 280
LPEESKSASNKSPLVLEANRAPAASEGNHTDGAEEAAGSCAQAPSHSPPNKPKLVVKPPGSSLNGVHPNP    281 - 350
TPIVQRLPAFLDNHNYAKSPMQEEEDLAAGVGRSRVPVRPPQQYSDDEDDYEDDEEDDVQNTNSALRYKG    351 - 420
KGTGKPGALSGSADGQLSVLQPNTINVLAEKLKESQKDLSIPLSIKTSSGAGSPAVAVPTHSQPSPTPSN    421 - 490
ESTDTASEIGSAFNSPLRSPIRSANPTRPSSPVTSHISKVLFGEDDSLLRVDCIRYNRAVRDLGPVISTG    491 - 560
LLHLAEDGVLSPLALTEGGKGSSPSIRPIQGSQGSSSPVEKEVVEATDSREKTGMVRPGEPLSGEKYSPK    561 - 630
ELLALLKCVEAEIANYEACLKEEVEKRKKFKIDDQRRTHNYDEFICTFISMLAQEGMLANLVEQNISVRR    631 - 700
RQGVSIGRLHKQRKPDRRKRSRPYKAKRQ                                             701 - 729
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Text Mined References (149)

PMID Year Title
27116551 2016 Metastatic Disease in Polyploid Uveal Melanoma Patients Is Associated With BAP1 Mutations.
27067777 2016 Loss of BAP1 expression is very rare in peritoneal and gynecologic serous adenocarcinomas and can be useful in the differential diagnosis with abdominal mesothelioma.
26982343 2016 Loss of BAP1 Expression Is Very Rare in Pancreatic Ductal Adenocarcinoma.
26900815 2016 BAP1 Immunohistochemistry and p16 FISH in the Diagnosis of Sarcomatous and Desmoplastic Mesotheliomas.
26774355 2016 A novel BAP1 mutation is associated with melanocytic neoplasms and thyroid cancer.
26765459 2016 Loss of BAP1 Expression Occurs Frequently in Intrahepatic Cholangiocarcinoma.
26739236 2016 BAP1/ASXL1 recruitment and activation for H2A deubiquitination.
26719535 2016 Germline BAP1 Mutational Landscape of Asbestos-Exposed Malignant Mesothelioma Patients with Family History of Cancer.
26701415 2016 Genetic evolution of nevus of Ota reveals clonal heterogeneity acquiring BAP1 and TP53 mutations.
26683624 2015 Combined Genetic and Genealogic Studies Uncover a Large BAP1 Cancer Syndrome Kindred Tracing Back Nine Generations to a Common Ancestor from the 1700s.
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