Information on BRIP1
Basic details
Alt. symbols: OF | BACH1 | FANCJ
Approved name: BRCA1 interacting DNA helicase 1
Alt. names: BRCA1/BRCA2-associated helicase 1
Location: 17q23.2: 61679139 - 61863559 (-)
Gene type: protein_coding, 26 transcripts.
Scores: LoFtool: 0.640000 | pLI: 0.00000000 | LOEUF: 0.786
Normal function
The protein encoded by this gene is a member of the RecQ DEAH helicase family and interacts with the BRCT repeats of breast cancer, type 1 (BRCA1). The bound complex is important in the normal double-strand break repair function of breast cancer, type 1 (BRCA1).
Dysfunction and disease
Fanconi anemia, complementation group J [MIM:609054] Fanconi anemia of complementation group J (FANCJ) is caused by homozygous or compound heterozygous mutation in the BRIP1 gene. {Breast cancer, early-onset, susceptibility to} [MIM:114480] [Load More]
[Reviewed by Laura Crisponi on 2022-03-22 11:40:22]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
FANCJ |
Fanconi anemia, complementation group J | AR |
609054 |
0 (0 fams) | |
| 5908 |
Breast cancer, early-onset, susceptibility to | AD |
114480 |
0 (0 fams) |
Please mind that full curation (inclusion of all published patients) of this gene has not started yet. Please contact us if you want to volunteer.
Transcripts of BRIP1
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 201 | ENST00000259008.7 | 1 | CCDS11631 | Select | protein_coding | 20 | Yes | 8182 | NM_032043 |
| 202 | ENST00000577598.5 | protein_coding | 18 | No | 3969 | XM_011525340 | |||
| 206 | ENST00000584322.2 | protein_coding | 17 | No | 716 | XM_011525341 | |||
| 219 | ENST00000683381.1 | protein_coding | 18 | No | XM_011525339 |
Published variants
Found 1 variants
| Var.name | Exon/Intron | cDNA_pos. | CDS_change | Prot.change | Var.type | Var.class. | Patients |
|---|---|---|---|---|---|---|---|
| R264W |
EX7 | 1065 | c.790C>T | p.Arg264Trp | missense_variant | Likely Benign | 0 |
Please mind that full curation (inclusion of all published variants) of this gene has not started yet. Please contact us if you want to volunteer.
Diagnostic pitfalls & paradigms
Considerations to take into account when analyzing this gene
| Year | Paradigm ⓘ | PMID | Notes |
|---|---|---|---|
| - | Regions of Homology | - | |
| - | Cryptic splicing | - | Unreported or not recorded in our DB. |
| - | Uniparental disomy | - | Unreported or not recorded in our DB. |
| - | Mosaicism | - | Unreported or not recorded in our DB. |
| - | Incomplete penetrance | - | Unreported or not recorded in our DB. |
| - | Di-/oligo-genic inheritance | - | Unreported or not recorded in our DB. |
| - | Somatic reversion | - | Unreported or not recorded in our DB. |
References linked to variants in BRIP1
| ID | Year | Title | Journal | PMID | Variants |
|---|---|---|---|---|---|
| 556 |
2019 | Outcomes of 92 patient-driven family studies for reclassific... | Genet. Med. | 30374176 |
1 |