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), 146 orthologues, is a member of 1 Ensembl protein family and is associated with 95 phenotypes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
BRCA1-001ENST00000357654.370941863aaENSP00000350283
 
Protein coding
CCDS11453C4PFY7 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
NP_009225
GENCODE basic
BRCA1-005ENST00000471181.259361884aaENSP00000418960
 
Protein coding
CCDS11456C4PFY7 C9IZW4 E7EWN5
E9PFC7 G1UI37 G4V4Z7
G4V4Z8 G4V500 G4V502
G4V503 K4JUB1 K4JXS7
K4K7V3 K7EPC7 Q3B891
Q3YB49 Q3YB50 Q3YB53
Q4EW25 Q7KYU6 Q92897
Q9NQR3 Q9UE29
NM_007300
NP_009231
GENCODE basic
BRCA1-006ENST00000493795.157321816aaENSP00000418775
 
Protein coding
CCDS11459C4PFY7 C9IZW4 E7EP70
E9PFZ0 G4V4Z7 G4V4Z8
G4V500 G4V502 G4V503
K4JUB1 K4JXS7 K4K7V3
K7EPC7 Q3YB49 Q3YB50
Q3YB53 Q4EW25 Q7KYU6
Q9NQR3 Q9UE29
-GENCODE basic
BRCA1-007ENST00000468300.13273699aaENSP00000417148
 
Protein coding
CCDS11455C4PFY7 G1UI37 K4JXS7
P38398 Q92897 Q9NQR3
Q9UE29
NM_007299
NP_009230
GENCODE basic
BRCA1-014ENST00000491747.22379759aaENSP00000420705
 
Protein coding
CCDS11454B4DES0 C4PFY7 G1UI37
K4JXS7 K7EPC7 P38398
Q7KYU6 Q92897 Q9NQR3
Q9UE29
NM_007298
NP_009229
GENCODE basic
BRCA1-201ENST00000309486.471141567aaENSP00000310938
 
Protein coding
-C4PFY7 C9IZW4 E7EP70
G4V4Z7 G4V4Z8 K4JUB1
K4JXS7 K4K7V3 K7EPC7
Q3YB49 Q3YB50 Q3YB53
Q7KYU6 Q9NQR3 Q9UE29
NM_007297
NP_009228
GENCODE basic
BRCA1-202ENST00000346315.364511624aaENSP00000246907
 
Protein coding
-C4PFY7 C9IZW4 E7EMP0
E7EWN5 G1UI37 G4V4Z7
G4V4Z8 G4V500 G4V502
G4V503 K4JUB1 K4K7V3
Q3B891 Q3YB49 Q3YB50
Q3YB53 Q4EW25 Q92897
Q9NQR3
-GENCODE basic
BRCA1-205ENST00000354071.364111598aaENSP00000326002
 
Protein coding
-C9IZW4 E7EWN5 F8W8H7
G1UI37 G4V4Z7 G4V4Z8
G4V500 G4V502 G4V503
K4JUB1 K4K7V3 Q3B891
Q3YB49 Q3YB50 Q3YB53
Q4EW25 Q92897 Q9NQR3
-GENCODE basic
BRCA1-204ENST00000352993.33780721aaENSP00000312236
 
Protein coding
-C4PFY7 G1UI37 K4JXS7
K7EPC7 P38398 Q7KYU6
Q92897 Q9NQR3 Q9UE29
-GENCODE basic
BRCA1-203ENST00000351666.33444680aaENSP00000338007
 
Protein coding
-C4PFY7 G1UI37 G3XAC3
K4JXS7 K7EPC7 Q7KYU6
Q92897 Q9NQR3 Q9UE29
-GENCODE basic
BRCA1-011ENST00000470026.12108649aaENSP00000419274
 
Protein coding
-C9IZW4 E7EWN5 G1UI37
G4V500 G4V502 G4V503
Q3B891 Q4EW25 Q92897
-CDS 3' incomplete
BRCA1-004ENST00000477152.11980622aaENSP00000419988
 
Protein coding
-C9IZW4 E7ENB7 E9PH68
G1UI37 G4V500 G4V502
G4V503 Q4EW25 Q92897
-CDS 3' incomplete
BRCA1-009ENST00000478531.11972623aaENSP00000420412
 
Protein coding
-C4PFY7 E7EQW4 E7EUM2
G1UI37 K4JXS7 K4K7U9
Q92897 Q9UE29
-CDS 3' incomplete
BRCA1-008ENST00000493919.11948572aaENSP00000418819
 
Protein coding
-B7ZA85 C4PFY7 K4JXS7
Q9UE29
-CDS 3' incomplete
BRCA1-013ENST00000494123.11612473aaENSP00000419103
 
Protein coding
-C9IZW4 G1UI37 G4V500
G4V502 G4V503 Q3B891
Q4EW25 Q92897
-CDS 3' incomplete
BRCA1-015ENST00000484087.11495498aaENSP00000419481
 
Protein coding
-C4PFY7 H0Y8B8 K4JXS7
K4K7U9 Q9UE29
-CDS 5' and 3' incomplete
BRCA1-024ENST00000591534.11282354aaENSP00000467329
 
Protein coding
-C4PFY7 K4JXS7 K7EPC7
Q7KYU6 Q9NQR3 Q9UE29
-GENCODE basic
BRCA1-018ENST00000473961.1958319aaENSP00000420201
 
Protein coding
-G4V500 G4V502 G4V503
K4K7U9 Q4EW25
-CDS 5' and 3' incomplete
BRCA1-019ENST00000487825.1800266aaENSP00000418212
 
Protein coding
-H0Y881 -CDS 5' and 3' incomplete
BRCA1-023ENST00000586385.1781173aaENSP00000465818
 
Protein coding
-C4PFY7 C6YB45 Q9NQR3
-GENCODE basic
BRCA1-003ENST00000497488.1779177aaENSP00000418986
 
Protein coding
-C9IZW4 -CDS 3' incomplete
BRCA1-017ENST00000476777.1769222aaENSP00000417554
 
Protein coding
-E7EQW4 G1UI37 K4K7U9
Q92897
-CDS 3' incomplete
BRCA1-022ENST00000461574.1726242aaENSP00000417241
 
Protein coding
-G4V4Z7 G4V4Z8 -CDS 5' and 3' incomplete
BRCA1-025ENST00000591849.156396aaENSP00000465347
 
Protein coding
-K7EJW3 -GENCODE basic
BRCA1-016ENST00000489037.145598aaENSP00000420781
 
Protein coding
-E7ENB7 G1UI37 Q92897
-CDS 3' incomplete
BRCA1-026ENST00000412061.31312437aaENSP00000397145
 
Non stop decay
-C9IZW4 G4V500 G4V502
G4V503 Q4EW25
-CDS 5' incomplete
BRCA1-010ENST00000461221.1569363aaENSP00000418548
 
Nonsense mediated decay
-G1UI37 P38398 Q92897
--
BRCA1-002ENST00000492859.1158459aaENSP00000420253
 
Nonsense mediated decay
-E9PC22 G1UI37 Q92897
--
BRCA1-020ENST00000461798.158263aaENSP00000417988
 
Nonsense mediated decay
-G1UI37 P38398 Q92897
--
BRCA1-012ENST00000467274.14497No protein-
 
Retained intron
----
BRCA1-021ENST00000472490.1561No protein-
 
Retained intron
----

Gene-based displays