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BRIP1
Basic information
- Official gene symbol
-
BRCA1 interacting protein C-terminal helicase 1
- Conventional gene symbol
-
BACH1, FANCJ, OF
- Classification
-
Tumor suppressor gene
- Official gene ID
- Transcript ID
- Functional classification
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Genome maintenance
- Signaling pathway
-
Core DNA Damage Response
- Chromosomal location
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17q23.2 (chr17:59760657..59938900, complement)
- Protein length
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1,249
Chromosome ideogram
Pathway map
Frequency of somatic alterationsTumor type
Base substitutions, insertions, and deletions
Copy number alterations
Distribution of tumor mutation burdenTMB
List of driver somatic mutations
| Genomic Coordinates (GRCh37/hg19) | Reference | Variant | Exon | Amino Acid change | Coding DNA change | COSMIC (v92) | Classification | No. of Samples |
|---|---|---|---|---|---|---|---|---|
| chr17:59934489 | TC | T | 4 / 20 | p.G103fs | c.308delG | Tier2 | 1 / 76 | |
| chr17:59760875 | C | A | 20 / 20 | p.E1178* | c.3532G>T | Tier2 | 1 / 76 |