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General information | Expression | Regulation | Mutation | Interaction |
Basic Information |
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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 | | Top | |
There is no record for BAP1 |
Indel | | Top | |
Mutation (Type; AA; Chr) |
Site |
Histology |
---|---|---|
Deletion - In frame; c.845_853del9; 3:52414899-52414907 |
eye; uveal_tract | mixed; malignant_melanoma |
Deletion - Frameshift; c.2080_2105del26; 3:52411429-52411454 |
eye; uveal_tract | epithelioid; malignant_melanoma |
Deletion - Frameshift; c.2095_2096delCG; 3:52411438-52411439 |
pleura | epithelial; mesothelioma |
Deletion - Frameshift; c.354_354delC; 3:52417035-52417035 |
pleura | mesothelioma |
Deletion - Frameshift; c.1023_1023delC; 3:52414259-52414259 |
pleura | epithelial; mesothelioma |
Deletion - Frameshift; c.219_219delT; 3:52417566-52417566 |
eye; uveal_tract | malignant_melanoma |
Deletion - Frameshift; c.812_821del10; 3:52414931-52414940 |
eye; uveal_tract | malignant_melanoma |
Deletion - Frameshift; c.226_239del14; 3:52417546-52417559 |
eye; uveal_tract | malignant_melanoma |
Deletion - Frameshift; c.1604_1604delA; 3:52412597-52412597 |
pleura | biphasic; mesothelioma |
Deletion - Frameshift; c.170_170delG; 3:52417615-52417615 |
pleura | mesothelioma |
Deletion - Frameshift; c.353_372del20; 3:52417017-52417036 |
eye; uveal_tract | mixed; malignant_melanoma |
Deletion - Frameshift; c.700_700delG; 3:52415392-52415392 |
pleura | epithelial; mesothelioma |
Deletion - Frameshift; c.1497_1497delC; 3:52412704-52412704 |
pleura | epithelial; mesothelioma |
Deletion - Frameshift; c.968_978del11; 3:52414304-52414314 |
eye; uveal_tract | epithelioid; malignant_melanoma |
Deletion - Frameshift; c.621_636del16; 3:52415908-52415923 |
eye; uveal_tract | epithelioid; malignant_melanoma |
Deletion - Frameshift; c.759_759delG; 3:52415333-52415333 |
eye; uveal_tract | mixed; malignant_melanoma |
Deletion - Frameshift; c.999_1050del52; 3:52414232-52414283 |
skin; arm | malignant_melanoma |
Deletion - Frameshift; c.172_179delTCCCGGCG; 3:52417606-52417613 |
eye; uveal_tract | malignant_melanoma |
Deletion - Frameshift; c.1553_1559delGGCCCTC; 3:52412642-52412648 |
pleura | epithelial; mesothelioma |
Deletion - Frameshift; c.214_238del25; 3:52417547-52417571 |
pleura | epithelial; mesothelioma |
Deletion - In frame; c.1891_1902del12; 3:52411916-52411927 |
eye; uveal_tract | epithelioid; malignant_melanoma |
Deletion - Frameshift; c.278_281delCTCA; 3:52417108-52417111 |
skin; upper_back | malignant_melanoma |
Deletion - Frameshift; c.512_512delT; 3:52416298-52416298 |
pleura | epithelial; mesothelioma |
Deletion - Frameshift; c.1892_1901del10; 3:52411917-52411926 |
pleura | mesothelioma |
Deletion - Frameshift; c.495_519del25; 3:52416291-52416315 |
eye; uveal_tract | spindle; malignant_melanoma |
Deletion - Frameshift; c.323_324delTG; 3:52417065-52417066 |
pleura | epithelial; mesothelioma |
Deletion - Frameshift; c.1937_1955del19; 3:52411863-52411881 |
pleura | mesothelioma |
Deletion - Frameshift; c.354_354delC; 3:52417035-52417035 |
pleura | mesothelioma |
Deletion - Frameshift; c.1714_1718delCCCCT; 3:52412483-52412487 |
eye; uveal_tract | epithelioid; malignant_melanoma |
Deletion - Frameshift; c.144_144delC; 3:52417641-52417641 |
eye; uveal_tract | spindle; malignant_melanoma |
Deletion - Frameshift; c.634_634delG; 3:52415910-52415910 |
eye; uveal_tract | malignant_melanoma |
Deletion - Frameshift; c.602_602delA; 3:52415942-52415942 |
pleura | mesothelioma |
Deletion - Frameshift; c.966_978del13; 3:52414304-52414316 |
pleura | mesothelioma |
Deletion - Frameshift; c.993_993delA; 3:52414289-52414289 |
eye; uveal_tract | malignant_melanoma |
Deletion - Frameshift; c.1794_1797delAGTG; 3:52412287-52412290 |
pleura | biphasic; mesothelioma |
Other Mutation | | Top | |
Mutation (Type; AA; Chr) |
Site |
Histology |
---|---|---|
Whole gene deletion; c.1_2190del2190; |
pleura | epithelial; mesothelioma |
Complex - deletion inframe; c.1911_1913delGTG; 3:52411905-52411907 |
eye; uveal_tract | epithelioid; malignant_melanoma |
Complex - deletion inframe; c.1997_2005del9; 3:52411709-52411717 |
eye; uveal_tract | mixed; malignant_melanoma |
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