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 |
---|---|---|---|---|---|---|---|---|---|
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 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
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 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | - | - | - |