Description
breast cancer 1, early onset [Source:HGNC Symbol;Acc:1100]
Gene Synonyms
BRCAI, BRCC1, BROVCA1, IRIS, PNCA4, PPP1R53, PSCP, RNF53
Location
Chromosome 17: 41,196,312-41,277,500 reverse strand.
GRCh37:CM000679.1
About this gene
This gene has 31 transcripts (splice variants) and is associated with 108 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000471181.2 | BRCA1-005 | 5936 | 1884aa | ENSP00000418960.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS11456 | C4PFY7 C9IZW4 E7EWN5 E9PFC7 G1UI37 G4V4Z7 G4V4Z8 G4V500 G4V502 G4V503 K4JUB1 K4JXS7 K4K7V3 K7EPC7 Q3B891 Q3YB49 Q3YB50 Q3YB53 Q4EW25 Q7KYU6 Q92897 Q9NQR3 Q9UE29 | NM_007300.3 | A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000309486.4 | BRCA1-201 | 7114 | 1567aa | ENSP00000310938.4 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | C4PFY7 C9IZW4 E7EP70 G4V4Z7 G4V4Z8 K4JUB1 K4JXS7 K4K7V3 K7EPC7 Q3YB49 Q3YB50 Q3YB53 Q7KYU6 Q9NQR3 Q9UE29 | NM_007297.3 | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000357654.3 | BRCA1-001 | 7094 | 1863aa | ENSP00000350283.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS11453 | C4PFY7 C9IZW4 E7EP70 E7EWN5 E9PFZ0 G1UI37 G4V4Z7 G4V4Z8 G4V500 G4V502 G4V503 K4JUB1 K4JXS7 K4K7V3 K7EPC7 P38398 Q3B891 Q3LRH8 Q3YB49 Q3YB50 Q3YB53 Q4EW25 Q7KYU6 Q92897 Q9NQR3 Q9UE29 | NM_007294.3 | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000346315.3 | BRCA1-202 | 6451 | 1624aa | ENSP00000246907.4 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | C4PFY7 C9IZW4 E7EMP0 E7EWN5 G1UI37 G4V4Z7 G4V4Z8 G4V500 G4V502 G4V503 K4JUB1 K4K7V3 Q3B891 Q3YB49 Q3YB50 Q3YB53 Q4EW25 Q92897 Q9NQR3 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000354071.3 | BRCA1-205 | 6411 | 1598aa | ENSP00000326002.6 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | C9IZW4 E7EWN5 F8W8H7 G1UI37 G4V4Z7 G4V4Z8 G4V500 G4V502 G4V503 K4JUB1 K4K7V3 Q3B891 Q3YB49 Q3YB50 Q3YB53 Q4EW25 Q92897 Q9NQR3 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000493795.1 | BRCA1-006 | 5732 | 1816aa | ENSP00000418775.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS11459 | C4PFY7 C9IZW4 E7EP70 E9PFZ0 G4V4Z7 G4V4Z8 G4V500 G4V502 G4V503 K4JUB1 K4JXS7 K4K7V3 K7EPC7 Q3YB49 Q3YB50 Q3YB53 Q4EW25 Q7KYU6 Q9NQR3 Q9UE29 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000352993.3 | BRCA1-204 | 3780 | 721aa | ENSP00000312236.5 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | C4PFY7 G1UI37 K4JXS7 K7EPC7 P38398 Q7KYU6 Q92897 Q9NQR3 Q9UE29 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000351666.3 | BRCA1-203 | 3444 | 680aa | ENSP00000338007.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | C4PFY7 G1UI37 G3XAC3 K4JXS7 K7EPC7 Q7KYU6 Q92897 Q9NQR3 Q9UE29 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000468300.1 | BRCA1-007 | 3273 | 699aa | ENSP00000417148.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS11455 | C4PFY7 G1UI37 K4JXS7 P38398 Q92897 Q9NQR3 Q9UE29 | NM_007299.3 | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000491747.2 | BRCA1-014 | 2379 | 759aa | ENSP00000420705.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS11454 | B4DES0 C4PFY7 G1UI37 K4JXS7 K7EPC7 P38398 Q7KYU6 Q92897 Q9NQR3 Q9UE29 | NM_007298.3 | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000470026.1 | BRCA1-011 | 2108 | 649aa | ENSP00000419274.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | C9IZW4 E7EWN5 G1UI37 G4V500 G4V502 G4V503 Q3B891 Q4EW25 Q92897 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000477152.1 | BRCA1-004 | 1980 | 622aa | ENSP00000419988.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | C9IZW4 E7ENB7 E9PH68 G1UI37 G4V500 G4V502 G4V503 Q4EW25 Q92897 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000478531.1 | BRCA1-009 | 1972 | 623aa | ENSP00000420412.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | C4PFY7 E7EQW4 E7EUM2 G1UI37 K4JXS7 K4K7U9 Q92897 Q9UE29 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000493919.1 | BRCA1-008 | 1948 | 572aa | ENSP00000418819.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B7ZA85 C4PFY7 K4JXS7 Q9UE29 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000494123.1 | BRCA1-013 | 1612 | 473aa | ENSP00000419103.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | C9IZW4 G1UI37 G4V500 G4V502 G4V503 Q3B891 Q4EW25 Q92897 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000484087.1 | BRCA1-015 | 1495 | 498aa | ENSP00000419481.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | C4PFY7 H0Y8B8 K4JXS7 K4K7U9 Q9UE29 | - | 5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete, | |
| ENST00000591534.1 | BRCA1-024 | 1282 | 354aa | ENSP00000467329.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | C4PFY7 K4JXS7 K7EPC7 Q7KYU6 Q9NQR3 Q9UE29 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000473961.1 | BRCA1-018 | 958 | 319aa | ENSP00000420201.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | G4V500 G4V502 G4V503 K4K7U9 Q4EW25 | - | 5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete, | |
| ENST00000487825.1 | BRCA1-019 | 800 | 266aa | ENSP00000418212.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | H0Y881 | - | 5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete, | |
| ENST00000586385.1 | BRCA1-023 | 781 | 173aa | ENSP00000465818.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | C4PFY7 C6YB45 Q9NQR3 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000497488.1 | BRCA1-003 | 779 | 177aa | ENSP00000418986.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | C9IZW4 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000476777.1 | BRCA1-017 | 769 | 222aa | ENSP00000417554.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | E7EQW4 G1UI37 K4K7U9 Q92897 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000461574.1 | BRCA1-022 | 726 | 242aa | ENSP00000417241.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | G4V4Z7 G4V4Z8 | - | 5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete, | |
| ENST00000591849.1 | BRCA1-025 | 563 | 96aa | ENSP00000465347.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | K7EJW3 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000489037.1 | BRCA1-016 | 455 | 98aa | ENSP00000420781.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | E7ENB7 G1UI37 Q92897 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000412061.3 | BRCA1-026 | 1312 | 437aa | ENSP00000397145.3 | Non stop decay | C9IZW4 G4V500 G4V502 G4V503 Q4EW25 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000461221.1 | BRCA1-010 | 5693 | 63aa | ENSP00000418548.1 | Nonsense mediated decay | G1UI37 P38398 Q92897 | - | - | |
| ENST00000492859.1 | BRCA1-002 | 1584 | 59aa | ENSP00000420253.1 | Nonsense mediated decay | E9PC22 G1UI37 Q92897 | - | - | |
| ENST00000461798.1 | BRCA1-020 | 582 | 63aa | ENSP00000417988.1 | Nonsense mediated decay | G1UI37 P38398 Q92897 | - | - | |
| ENST00000467274.1 | BRCA1-012 | 4497 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000472490.1 | BRCA1-021 | 561 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
