MCID: BP1002
MIFTS: 42

Bap1 Tumor Predisposition Syndrome

Categories: Rare diseases

Aliases & Classifications for Bap1 Tumor Predisposition Syndrome

MalaCards integrated aliases for Bap1 Tumor Predisposition Syndrome:

Name: Bap1 Tumor Predisposition Syndrome 25 20 43 29
Common Syndrome 25 20 43 29
Tumor Susceptibility Linked to Germline Bap1 Mutations 20 29 6
Bap1 Cancer Syndrome 25 29 6
Cutaneous/ocular Melanoma, Atypical Melanocytic Proliferations, and Other Internal Neoplasms 20 43
Bap1-Related Tumor Predisposition Syndrome 20 43
Tumor Predisposition Syndrome 20 70
Bap1-Tpds 20 43
Cutaneous/ocular Melanoma, Atypical Melanocytic Proliferations, Other Internal Neoplasms 25

Characteristics:

GeneReviews:

25
Penetrance The penetrance of the bap1-tpds appears to be high based on the published literature, with 88% of probands and 82.5% of relatives with a heterozygous germline bap1 pathogenic variant having had a cancer diagnosis. however, ascertainment biases in favor of both testing and reporting affected versus unaffected individuals may have inflated this figure. for example, in more than half of the reported families only the proband had been tested. also, the majority of the study participants were ascertained based on their strong family history of cancer. given these biases, an accurate estimate of penetrance cannot be determined at this time. in attempting to adjust for this, walpole et al [2018] found a significantly lower prevalence of bap1-related tumors in affected relatives compared to probands (see prevalence).

Classifications:



External Ids:

UMLS 70 C3280492

Summaries for Bap1 Tumor Predisposition Syndrome

MedlinePlus Genetics : 43 BAP1 tumor predisposition syndrome is an inherited disorder that increases the risk of a variety of cancerous (malignant) and noncancerous (benign) tumors, most commonly certain types of tumors that occur in the skin, eyes, kidneys, and the tissue that lines the chest, abdomen, and the outer surface of the internal organs (the mesothelium). Affected individuals can develop one or more types of tumor, and affected members of the same family can have different types.Some people with BAP1 tumor predisposition syndrome develop growths in the skin known as atypical Spitz tumors. People with this syndrome may have more than one of these tumors, and they can have dozens. Atypical Spitz tumors are generally considered benign, although it is unclear if they can become cancerous. Skin cancers are also associated with BAP1 tumor predisposition syndrome, including cutaneous melanoma and basal cell carcinoma.A type of eye cancer called uveal melanoma is the most common cancerous tumor in BAP1 tumor predisposition syndrome. Although uveal melanoma does not usually cause any symptoms, some people with this type of cancer have blurred vision; small, moving dots (floaters) or flashes of light in their vision; headaches; or a visible dark spot on the eye.People with BAP1 tumor predisposition syndrome are at risk of developing malignant mesothelioma, which is cancer of the mesothelium. When associated with BAP1 tumor predisposition syndrome, malignant mesothelioma most often occurs in the membrane that lines the abdomen and covers the abdominal organs (the peritoneum). It less commonly occurs in the outer covering of the lungs (the pleura).A form of kidney cancer called clear cell renal cell carcinoma is also associated with the condition. Researchers are still determining whether other forms of cancer are linked to BAP1 tumor predisposition syndrome.When they occur in people with BAP1 tumor predisposition syndrome, cancers tend to arise at a younger age and are often more aggressive than cancers in the general population. The cancerous tumors in BAP1 tumor predisposition syndrome tend to spread (metastasize) to other parts of the body. Survival of affected individuals with this syndrome is usually shorter than in other people who have one of these cancers. However, individuals with malignant mesothelioma as part of the BAP1 tumor predisposition syndrome appear to survive longer than those who have the cancer without the syndrome.

MalaCards based summary : Bap1 Tumor Predisposition Syndrome, also known as common syndrome, is related to medulloblastoma and atypical teratoid rhabdoid tumor. An important gene associated with Bap1 Tumor Predisposition Syndrome is BAP1 (BRCA1 Associated Protein 1), and among its related pathways/superpathways are DNA Double-Strand Break Repair and Homologous DNA Pairing and Strand Exchange. Affiliated tissues include eye, breast and ovary, and related phenotypes are Decreased homologous recombination repair frequency and Decreased homologous recombination repair frequency

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 289539 Definition BAP1-related tumor predisposition syndrome (TPDS) is an inherited cancer -predisposing syndrome, associated with germline mutations in BAP1 tumor suppressor gene. The most commonly observed cancer types include uveal melanoma, malignant mesothelioma, renal cell carcinoma, lung, ovarian, pancreatic, breast cancer and meningioma, with variable age of onset. Common cutaneous manifestations include malignant melanoma, basal cell carcinoma and benign melanocytic BAP1- mutated atypical intradermal tumors (MBAIT) presenting as multiple skin-coloured to reddish-brown dome-shaped to pedunculated, well-circumscribed papules with an average size of 5 mm, histologically predominantly composed of epithelioid melanocytes with abundant amphophilic cytoplasm, prominent nucleoli and large, vesicular nuclei that vary substantially in size and shape.

GeneReviews: NBK390611

Related Diseases for Bap1 Tumor Predisposition Syndrome

Diseases related to Bap1 Tumor Predisposition Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 116)
# Related Disease Score Top Affiliating Genes
1 medulloblastoma 28.8 PALB2 BRCA2 BAP1
2 atypical teratoid rhabdoid tumor 11.7
3 rhabdoid tumor predisposition syndrome 2 11.7
4 rhabdoid tumor predisposition syndrome 1 11.7
5 rhabdoid cancer 11.5
6 paragangliomas 6 11.2
7 paragangliomas 7 11.2
8 dicer1 tumor predisposition 11.2
9 fh tumor predisposition syndrome 11.1
10 pleuropulmonary blastoma 11.1
11 diaphyseal medullary stenosis with malignant fibrous histiocytoma 11.0
12 hereditary leiomyomatosis and renal cell cancer 11.0
13 schwannomatosis 2 11.0
14 familial adenomatous polyposis 4 11.0
15 tumor predisposition syndrome 10.6
16 melanoma, uveal 10.5
17 benign mesothelioma 10.5
18 skin melanoma 10.4
19 mesothelioma, malignant 10.4
20 melanoma 10.4
21 renal cell carcinoma, nonpapillary 10.3
22 cholangiocarcinoma 10.3
23 intrahepatic cholangiocarcinoma 10.3
24 meningioma, familial 10.2
25 cutaneous telangiectasia and cancer syndrome, familial 10.2
26 intracranial meningioma 10.2
27 secretory meningioma 10.2
28 lymphoplasmacyte-rich meningioma 10.2
29 inherited cancer-predisposing syndrome 10.2
30 thyroid carcinoma 10.2
31 embryoma 10.2
32 glioma susceptibility 1 10.1
33 lymphoma, hodgkin, classic 10.1
34 lymphoma, non-hodgkin, familial 10.1
35 lung cancer susceptibility 3 10.1
36 neuroendocrine carcinoma 10.1
37 basal cell carcinoma 10.1
38 malignant astrocytoma 10.1
39 pancreatic adenocarcinoma 10.1
40 malignant peripheral nerve sheath tumor 10.1
41 nephroma 10.1
42 embryonal rhabdomyosarcoma 10.1
43 rhabdomyosarcoma 10.1
44 medulloepithelioma 10.1
45 dicer1-related pleuropulmonary blastoma cancer predisposition syndrome 10.1
46 coffin-siris syndrome 1 10.0
47 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.0
48 small cell carcinoma 10.0
49 kidney rhabdoid cancer 10.0
50 ovarian small cell carcinoma 10.0

Graphical network of the top 20 diseases related to Bap1 Tumor Predisposition Syndrome:



Diseases related to Bap1 Tumor Predisposition Syndrome

Symptoms & Phenotypes for Bap1 Tumor Predisposition Syndrome

GenomeRNAi Phenotypes related to Bap1 Tumor Predisposition Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased homologous recombination repair frequency GR00236-A-1 9.43 BRCA2 PALB2
2 Decreased homologous recombination repair frequency GR00236-A-2 9.43 BRCA2 PALB2
3 Decreased homologous recombination repair frequency GR00236-A-3 9.43 BRCA2 PALB2
4 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.17 BRCA2 PALB2
5 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.17 BRCA2 PALB2
6 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 9.17 BAP1 BRCA2 PMS2

MGI Mouse Phenotypes related to Bap1 Tumor Predisposition Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 8.92 BAP1 BRCA2 PALB2 PMS2

Drugs & Therapeutics for Bap1 Tumor Predisposition Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Identification of Patients/Families With a Paediatric Tumor and One or More Developmental Abnormalities - Characterization of New Tumor Predisposition Syndromes and Study Their Molecular Basis Unknown status NCT01915797
2 Prospective Evaluation of Photon Counting Computed Tomographic Imaging, Noninvasive (Liquid) Biopsies, and Minimally Invasive Surgical Surveillance for Early Detection of Mesotheliomas in Patients With BAP1 Tumor Predisposition Syndrome Recruiting NCT04431024

Search NIH Clinical Center for Bap1 Tumor Predisposition Syndrome

Genetic Tests for Bap1 Tumor Predisposition Syndrome

Genetic tests related to Bap1 Tumor Predisposition Syndrome:

# Genetic test Affiliating Genes
1 Tumor Susceptibility Linked to Germline Bap1 Mutations 29 BAP1
2 Bap1 Cancer Syndrome 29
3 Common Syndrome 29
4 Bap1 Tumor Predisposition Syndrome 29

Anatomical Context for Bap1 Tumor Predisposition Syndrome

MalaCards organs/tissues related to Bap1 Tumor Predisposition Syndrome:

40
Eye, Breast, Ovary, Lung, Skin, Spleen, Thyroid

Publications for Bap1 Tumor Predisposition Syndrome

Articles related to Bap1 Tumor Predisposition Syndrome:

(show top 50) (show all 617)
# Title Authors PMID Year
1
Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide. 61 25 6
30517737 2018
2
Comprehensive review of BAP1 tumor predisposition syndrome with report of two new cases. 61 6 25
26096145 2016
3
Germline BAP1 inactivation is preferentially associated with metastatic ocular melanoma and cutaneous-ocular melanoma families. 61 25 6
22545102 2012
4
Multigene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non-CDKN2A/CDK4 melanoma families. 6 25
30414346 2019
5
Germline mutations of renal cancer predisposition genes and clinical relevance in Chinese patients with sporadic, early-onset disease. 25 6
30548481 2019
6
Inherited predisposition to malignant mesothelioma and overall survival following platinum chemotherapy. 6 25
30975761 2019
7
Genotypic and Phenotypic Features of BAP1 Cancer Syndrome: A Report of 8 New Families and Review of Cases in the Literature. 6 25
28793149 2017
8
Germline and somatic BAP1 mutations in high-grade rhabdoid meningiomas. 25 6
28170043 2017
9
Germline BAP1 alterations in familial uveal melanoma. 6 25
27718540 2017
10
Germline BAP1 Mutational Landscape of Asbestos-Exposed Malignant Mesothelioma Patients with Family History of Cancer. 6 25
26719535 2016
11
Germline BAP1 mutation in a family with high incidence of multiple primary cancers and a potential gene-environment interaction. 6 25
26409435 2015
12
Combined Genetic and Genealogic Studies Uncover a Large BAP1 Cancer Syndrome Kindred Tracing Back Nine Generations to a Common Ancestor from the 1700s. 25 6
26683624 2015
13
A recurrent germline BAP1 mutation and extension of the BAP1 tumor predisposition spectrum to include basal cell carcinoma. 25 6
25225168 2015
14
Clinical Characteristics of Uveal Melanoma in Patients With Germline BAP1 Mutations. 6 25
25974357 2015
15
Expanding the clinical phenotype of hereditary BAP1 cancer predisposition syndrome, reporting three new cases. 25 6
24243779 2014
16
Germline BAP1 mutations predispose to renal cell carcinomas. 6 25
23684012 2013
17
Germline BAP1 mutation predisposes to uveal melanoma, lung adenocarcinoma, meningioma, and other cancers. 25 6
21941004 2011
18
Germline BAP1 mutations predispose to malignant mesothelioma. 25 6
21874000 2011
19
Germline mutations in BAP1 predispose to melanocytic tumors. 6 25
21874003 2011
20
Families with BAP1-Tumor Predisposition Syndrome in The Netherlands: Path to Identification and a Proposal for Genetic Screening Guidelines. 61 6
31382694 2019
21
Comparison of Germline versus Somatic BAP1 Mutations for Risk of Metastasis in Uveal Melanoma. 6 61
30477459 2018
22
Multiple Cutaneous Melanomas and Clinically Atypical Moles in a Patient With a Novel Germline BAP1 Mutation. 61 6
26154183 2015
23
Concurrent germline and somatic pathogenic BAP1 variants in a patient with metastatic bladder cancer. 61 25
32218990 2020
24
Population-based analysis of BAP1 germline variations in patients with uveal melanoma. 61 25
31058963 2019
25
Sensitivity to asbestos is increased in patients with mesothelioma and pathogenic germline variants in BAP1 or other DNA repair genes. 61 25
30338612 2018
26
Clinical, dermoscopic, histological and molecular analysis of BAP1-inactivated melanocytic naevus/tumour in two familial cases of BAP1 syndrome. 6
29754391 2018
27
Inherited DNA-Repair Defects in Colorectal Cancer. 6
29478780 2018
28
Occurrence of BAP1 germline mutations in cutaneous melanocytic tumors with loss of BAP1-expression: A pilot study. 6
28560743 2017
29
Improving performance of multigene panels for genomic analysis of cancer predisposition. 6
26845104 2016
30
CDKN2A and BAP1 germline mutations predispose to melanoma and mesothelioma. 6
27181379 2016
31
Analysis of BAP1 Germline Gene Mutation in Young Uveal Melanoma Patients. 6
25687217 2015
32
Central European BRCA2 mutation carriers: birth cohort status correlates with onset of breast cancer. 6
24156927 2014
33
Melanoma susceptibility genes and risk assessment. 61 25
24258989 2014
34
The Importance of Multidisciplinary Approach in Early Detection of BAP1 Tumor Predisposition Syndrome: Clinical Management and Risk Assessment. 61 25
24855403 2014
35
Further evidence for germline BAP1 mutations predisposing to melanoma and malignant mesothelioma. 6
23849051 2013
36
Hereditary uveal melanoma: a report of a germline mutation in BAP1. 6
23341325 2013
37
Toward an improved definition of the tumor spectrum associated with BAP1 germline mutations. 6
23032617 2012
38
MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer. 6
20487569 2010
39
Founder mutations account for the majority of BRCA1-attributable hereditary breast/ovarian cancer cases in a population from Tuscany, Central Italy. 6
18821011 2009
40
BRCA1-associated protein-1 is a tumor suppressor that requires deubiquitinating activity and nuclear localization. 6
18757409 2008
41
Splicing in action: assessing disease causing sequence changes. 6
16199547 2005
42
Low frequency of recurrent BRCA1 and BRCA2 mutations in Spain. 6
11857748 2002
43
Whole Exome Sequencing Identifies Candidate Genes Associated with Hereditary Predisposition to Uveal Melanoma. 25
32081490 2020
44
Opposite Roles of BAP1 in Overall Survival of Uveal Melanoma and Cutaneous Melanoma. 25
32028647 2020
45
Germline large deletion of BAP1 and decreased expression in non-tumor choroid in uveal melanoma patients with high risk for inherited cancer. 25
30883995 2019
46
A Subset of Mesotheliomas With Improved Survival Occurring in Carriers of BAP1 and Other Germline Mutations. 25
30376426 2018
47
Frequency of Germline Mutations in Cancer Susceptibility Genes in Malignant Mesothelioma. 25
30113886 2018
48
Prevalence of Germline Mutations in Cancer Susceptibility Genes in Patients With Advanced Renal Cell Carcinoma. 25
29978187 2018
49
Pathogenic Germline Variants in 10,389 Adult Cancers. 25
29625052 2018
50
Germline BAP1-positive patients: the dilemmas of cancer surveillance and a proposed interdisciplinary consensus monitoring strategy. 25
29413689 2018

Variations for Bap1 Tumor Predisposition Syndrome

ClinVar genetic disease variations for Bap1 Tumor Predisposition Syndrome:

6 (show top 50) (show all 802)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 BAP1 NM_004656.4(BAP1):c.1305del (p.Gln436fs) Deletion Pathogenic 30299 rs587776877 GRCh37: 3:52437856-52437856
GRCh38: 3:52403840-52403840
2 BAP1 NM_004656.4(BAP1):c.2057-2A>G SNV Pathogenic 30300 rs587776878 GRCh37: 3:52436439-52436439
GRCh38: 3:52402423-52402423
3 BAP1 NM_004656.4(BAP1):c.438-2A>G SNV Pathogenic 30301 rs587776879 GRCh37: 3:52441334-52441334
GRCh38: 3:52407318-52407318
4 BAP1 BAP1, 1-BP DEL, 1832C Deletion Pathogenic 30303 GRCh37:
GRCh38:
5 BAP1 BAP1, 4-BP DEL, 2008TCAC Deletion Pathogenic 30304 GRCh37:
GRCh38:
6 BAP1 NM_004656.4(BAP1):c.78_79del (p.Val27fs) Deletion Pathogenic 55878 rs397509413 GRCh37: 3:52443613-52443614
GRCh38: 3:52409597-52409598
7 BAP1 NM_004656.4(BAP1):c.277A>G (p.Thr93Ala) SNV Pathogenic 55879 rs375129361 GRCh37: 3:52442072-52442072
GRCh38: 3:52408056-52408056
8 BAP1 NM_004656.4(BAP1):c.1654del (p.Asp552fs) Deletion Pathogenic 55880 rs397509414 GRCh37: 3:52437507-52437507
GRCh38: 3:52403491-52403491
9 BAP1 NM_004656.4(BAP1):c.778C>T (p.Gln260Ter) SNV Pathogenic 220590 rs864622592 GRCh37: 3:52440274-52440274
GRCh38: 3:52406258-52406258
10 BAP1 NM_004656.4(BAP1):c.544G>T (p.Glu182Ter) SNV Pathogenic 412399 rs1060503726 GRCh37: 3:52441226-52441226
GRCh38: 3:52407210-52407210
11 BAP1 NM_004656.4(BAP1):c.519T>G (p.Tyr173Ter) SNV Pathogenic 412451 rs143901408 GRCh37: 3:52441251-52441251
GRCh38: 3:52407235-52407235
12 BAP1 NM_004656.4(BAP1):c.644del (p.Gly215fs) Deletion Pathogenic 412400 rs1060503727 GRCh37: 3:52440860-52440860
GRCh38: 3:52406844-52406844
13 BAP1 NM_004656.4(BAP1):c.1416del (p.Ser473fs) Deletion Pathogenic 412409 rs1060503731 GRCh37: 3:52437745-52437745
GRCh38: 3:52403729-52403729
14 BAP1 NM_004656.4(BAP1):c.1379C>A (p.Ser460Ter) SNV Pathogenic 472667 rs1553644949 GRCh37: 3:52437782-52437782
GRCh38: 3:52403766-52403766
15 BAP1 NC_000003.11:g.(?_52436298)_(52443900_?)del Deletion Pathogenic 472655 GRCh37: 3:52436298-52443900
GRCh38:
16 BAP1 NM_004656.4(BAP1):c.587G>A (p.Trp196Ter) SNV Pathogenic 472707 rs1553645725 GRCh37: 3:52440917-52440917
GRCh38: 3:52406901-52406901
17 BAP1 NM_004656.4(BAP1):c.592G>T (p.Glu198Ter) SNV Pathogenic 539909 rs1553645720 GRCh37: 3:52440912-52440912
GRCh38: 3:52406896-52406896
18 BAP1 NM_004656.4(BAP1):c.1464del (p.Ser489fs) Deletion Pathogenic 539913 rs1553644922 GRCh37: 3:52437697-52437697
GRCh38: 3:52403681-52403681
19 BAP1 NM_004656.4(BAP1):c.1203_1214del (p.Tyr401_Glu405delinsTer) Deletion Pathogenic 539923 rs1553645117 GRCh37: 3:52438505-52438516
GRCh38: 3:52404489-52404500
20 BAP1 NM_004656.4(BAP1):c.178C>T (p.Arg60Ter) SNV Pathogenic 580226 rs1253151209 GRCh37: 3:52442567-52442567
GRCh38: 3:52408551-52408551
21 overlap with 2 genes NC_000003.12:g.(?_52399047)_(52409878_?)del Deletion Pathogenic 833290 GRCh37: 3:52433063-52443894
GRCh38:
22 BAP1 NM_004656.4(BAP1):c.133G>T (p.Gly45Ter) SNV Pathogenic 835021 GRCh37: 3:52442612-52442612
GRCh38: 3:52408596-52408596
23 BAP1 NM_004656.4(BAP1):c.1729G>T (p.Glu577Ter) SNV Pathogenic 845141 GRCh37: 3:52437432-52437432
GRCh38: 3:52403416-52403416
24 BAP1 NM_004656.4(BAP1):c.175del (p.Arg59fs) Deletion Pathogenic 851433 GRCh37: 3:52442570-52442570
GRCh38: 3:52408554-52408554
25 BAP1 NM_004656.4(BAP1):c.852del (p.Glu284fs) Deletion Pathogenic 854952 GRCh37: 3:52439860-52439860
GRCh38: 3:52405844-52405844
26 BAP1 NM_004656.4(BAP1):c.1437del (p.Thr480fs) Deletion Pathogenic 856406 GRCh37: 3:52437724-52437724
GRCh38: 3:52403708-52403708
27 BAP1 NM_004656.4(BAP1):c.1098T>G (p.Tyr366Ter) SNV Pathogenic 862537 GRCh37: 3:52439144-52439144
GRCh38: 3:52405128-52405128
28 BAP1 NM_004656.4(BAP1):c.1379C>G (p.Ser460Ter) SNV Pathogenic 650623 rs1553644949 GRCh37: 3:52437782-52437782
GRCh38: 3:52403766-52403766
29 BAP1 NM_004656.4(BAP1):c.1729+1G>A SNV Pathogenic 654973 rs1578220161 GRCh37: 3:52437431-52437431
GRCh38: 3:52403415-52403415
30 BAP1 NM_004656.4(BAP1):c.898_917del (p.Arg300fs) Deletion Pathogenic 663672 rs1578224271 GRCh37: 3:52439795-52439814
GRCh38: 3:52405779-52405798
31 BAP1 NM_004656.4(BAP1):c.1313C>A (p.Ser438Ter) SNV Pathogenic 942550 GRCh37: 3:52437848-52437848
GRCh38: 3:52403832-52403832
32 BAP1 NM_004656.4(BAP1):c.463A>T (p.Lys155Ter) SNV Pathogenic 944299 GRCh37: 3:52441307-52441307
GRCh38: 3:52407291-52407291
33 BAP1 NM_004656.4(BAP1):c.991_995del (p.Lys331fs) Deletion Pathogenic 944569 GRCh37: 3:52439247-52439251
GRCh38: 3:52405231-52405235
34 BAP1 NM_004656.4(BAP1):c.79del (p.Val27fs) Deletion Pathogenic 945509 GRCh37: 3:52443613-52443613
GRCh38: 3:52409597-52409597
35 BAP1 NM_004656.4(BAP1):c.1835del (p.Lys612fs) Deletion Pathogenic 412434 rs1060503743 GRCh37: 3:52437209-52437209
GRCh38: 3:52403193-52403193
36 BAP1 NM_004656.4(BAP1):c.181A>T (p.Lys61Ter) SNV Pathogenic 412435 rs1060503744 GRCh37: 3:52442564-52442564
GRCh38: 3:52408548-52408548
37 BAP1 NM_004656.4(BAP1):c.1036del (p.Val346fs) Deletion Pathogenic 950274 GRCh37: 3:52439206-52439206
GRCh38: 3:52405190-52405190
38 BAP1 NM_004656.4(BAP1):c.1986del (p.Ile662fs) Deletion Pathogenic 955914 GRCh37: 3:52436688-52436688
GRCh38: 3:52402672-52402672
39 BAP1 NM_004656.4(BAP1):c.238_239del (p.Met80fs) Deletion Pathogenic 965729 GRCh37: 3:52442506-52442507
GRCh38: 3:52408490-52408491
40 BAP1 NM_004656.4(BAP1):c.1565_1566del (p.Pro522fs) Deletion Pathogenic 970811 GRCh37: 3:52437595-52437596
GRCh38: 3:52403579-52403580
41 BAP1 NM_004656.4(BAP1):c.91del (p.Glu31fs) Deletion Pathogenic 539900 rs1553646294 GRCh37: 3:52443601-52443601
GRCh38: 3:52409585-52409585
42 BAP1 NM_004656.4(BAP1):c.1975A>T (p.Lys659Ter) SNV Pathogenic 539901 rs1553644659 GRCh37: 3:52436803-52436803
GRCh38: 3:52402787-52402787
43 BAP1 NM_004656.4(BAP1):c.118C>T (p.Gln40Ter) SNV Pathogenic 539912 rs1553646284 GRCh37: 3:52443574-52443574
GRCh38: 3:52409558-52409558
44 BAP1 NM_004656.4(BAP1):c.824del (p.Lys275fs) Deletion Pathogenic 565856 rs1559589252 GRCh37: 3:52439888-52439888
GRCh38: 3:52405872-52405872
45 BAP1 NM_004656.4(BAP1):c.11del (p.Gly4fs) Deletion Pathogenic 566165 rs1559593389 GRCh37: 3:52443884-52443884
GRCh38: 3:52409868-52409868
46 BAP1 NM_004656.4(BAP1):c.15G>A (p.Trp5Ter) SNV Pathogenic 575817 rs916069743 GRCh37: 3:52443880-52443880
GRCh38: 3:52409864-52409864
47 BAP1 NM_004656.4(BAP1):c.1729+1del Deletion Pathogenic 578825 rs1559586374 GRCh37: 3:52437431-52437431
GRCh38: 3:52403415-52403415
48 BAP1 NM_004656.4(BAP1):c.1185dup (p.Asp396fs) Duplication Pathogenic 412415 rs1553645136 GRCh37: 3:52438533-52438534
GRCh38: 3:52404517-52404518
49 BAP1 NM_004656.4(BAP1):c.517dup (p.Tyr173fs) Duplication Pathogenic 412449 rs1553645806 GRCh37: 3:52441252-52441253
GRCh38: 3:52407236-52407237
50 BAP1 NM_004656.4(BAP1):c.758dup (p.Thr254fs) Duplication Pathogenic 472715 rs1553645591 GRCh37: 3:52440293-52440294
GRCh38: 3:52406277-52406278

Expression for Bap1 Tumor Predisposition Syndrome

Search GEO for disease gene expression data for Bap1 Tumor Predisposition Syndrome.

Pathways for Bap1 Tumor Predisposition Syndrome

GO Terms for Bap1 Tumor Predisposition Syndrome

Cellular components related to Bap1 Tumor Predisposition Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 8.92 PMS2 PALB2 BRCA2 BAP1

Biological processes related to Bap1 Tumor Predisposition Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.33 PMS2 PALB2 BRCA2
2 DNA recombination GO:0006310 9.32 PALB2 BRCA2
3 double-strand break repair via homologous recombination GO:0000724 9.26 PALB2 BRCA2
4 DNA repair GO:0006281 9.13 PMS2 PALB2 BRCA2
5 inner cell mass cell proliferation GO:0001833 8.62 PALB2 BRCA2

Molecular functions related to Bap1 Tumor Predisposition Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 single-stranded DNA binding GO:0003697 8.62 PMS2 BRCA2

Sources for Bap1 Tumor Predisposition Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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