Bioinformatics and Systems Medicine Laboratory
General information | Expression | Regulation | Mutation | Interaction

Basic Information

Gene ID

8314

Name

BAP1

Synonymous

HUCEP-13|TPDS|UCHL2;BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase);BAP1;BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)

Definition

cerebral protein 6|cerebral protein-13|ubiquitin carboxyl-terminal hydrolase BAP1

Position

3p21.31-p21.2

Gene Type

protein-coding

Gene Mutation:

Substitution
Insertion & Deletion
Other Mutation

Substitution

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There is no record for BAP1

Indel

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Mutation (Type; AA; Chr)

Site

Histology

Deletion - In frame; c.845_853del9; 3:52414899-52414907

eye; uveal_tractmixed; malignant_melanoma

Deletion - Frameshift; c.2080_2105del26; 3:52411429-52411454

eye; uveal_tractepithelioid; malignant_melanoma

Deletion - Frameshift; c.2095_2096delCG; 3:52411438-52411439

pleuraepithelial; mesothelioma

Deletion - Frameshift; c.354_354delC; 3:52417035-52417035

pleuramesothelioma

Deletion - Frameshift; c.1023_1023delC; 3:52414259-52414259

pleuraepithelial; mesothelioma

Deletion - Frameshift; c.219_219delT; 3:52417566-52417566

eye; uveal_tractmalignant_melanoma

Deletion - Frameshift; c.812_821del10; 3:52414931-52414940

eye; uveal_tractmalignant_melanoma

Deletion - Frameshift; c.226_239del14; 3:52417546-52417559

eye; uveal_tractmalignant_melanoma

Deletion - Frameshift; c.1604_1604delA; 3:52412597-52412597

pleurabiphasic; mesothelioma

Deletion - Frameshift; c.170_170delG; 3:52417615-52417615

pleuramesothelioma

Deletion - Frameshift; c.353_372del20; 3:52417017-52417036

eye; uveal_tractmixed; malignant_melanoma

Deletion - Frameshift; c.700_700delG; 3:52415392-52415392

pleuraepithelial; mesothelioma

Deletion - Frameshift; c.1497_1497delC; 3:52412704-52412704

pleuraepithelial; mesothelioma

Deletion - Frameshift; c.968_978del11; 3:52414304-52414314

eye; uveal_tractepithelioid; malignant_melanoma

Deletion - Frameshift; c.621_636del16; 3:52415908-52415923

eye; uveal_tractepithelioid; malignant_melanoma

Deletion - Frameshift; c.759_759delG; 3:52415333-52415333

eye; uveal_tractmixed; malignant_melanoma

Deletion - Frameshift; c.999_1050del52; 3:52414232-52414283

skin; armmalignant_melanoma

Deletion - Frameshift; c.172_179delTCCCGGCG; 3:52417606-52417613

eye; uveal_tractmalignant_melanoma

Deletion - Frameshift; c.1553_1559delGGCCCTC; 3:52412642-52412648

pleuraepithelial; mesothelioma

Deletion - Frameshift; c.214_238del25; 3:52417547-52417571

pleuraepithelial; mesothelioma

Deletion - In frame; c.1891_1902del12; 3:52411916-52411927

eye; uveal_tractepithelioid; malignant_melanoma

Deletion - Frameshift; c.278_281delCTCA; 3:52417108-52417111

skin; upper_backmalignant_melanoma

Deletion - Frameshift; c.512_512delT; 3:52416298-52416298

pleuraepithelial; mesothelioma

Deletion - Frameshift; c.1892_1901del10; 3:52411917-52411926

pleuramesothelioma

Deletion - Frameshift; c.495_519del25; 3:52416291-52416315

eye; uveal_tractspindle; malignant_melanoma

Deletion - Frameshift; c.323_324delTG; 3:52417065-52417066

pleuraepithelial; mesothelioma

Deletion - Frameshift; c.1937_1955del19; 3:52411863-52411881

pleuramesothelioma

Deletion - Frameshift; c.354_354delC; 3:52417035-52417035

pleuramesothelioma

Deletion - Frameshift; c.1714_1718delCCCCT; 3:52412483-52412487

eye; uveal_tractepithelioid; malignant_melanoma

Deletion - Frameshift; c.144_144delC; 3:52417641-52417641

eye; uveal_tractspindle; malignant_melanoma

Deletion - Frameshift; c.634_634delG; 3:52415910-52415910

eye; uveal_tractmalignant_melanoma

Deletion - Frameshift; c.602_602delA; 3:52415942-52415942

pleuramesothelioma

Deletion - Frameshift; c.966_978del13; 3:52414304-52414316

pleuramesothelioma

Deletion - Frameshift; c.993_993delA; 3:52414289-52414289

eye; uveal_tractmalignant_melanoma

Deletion - Frameshift; c.1794_1797delAGTG; 3:52412287-52412290

pleurabiphasic; mesothelioma

Other Mutation

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Mutation (Type; AA; Chr)

Site

Histology

Whole gene deletion; c.1_2190del2190;

pleuraepithelial; mesothelioma

Complex - deletion inframe; c.1911_1913delGTG; 3:52411905-52411907

eye; uveal_tractepithelioid; malignant_melanoma

Complex - deletion inframe; c.1997_2005del9; 3:52411709-52411717

eye; uveal_tractmixed; malignant_melanoma


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