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Description

breast cancer 1, early onset [Source:HGNC Symbol;Acc:1100]

Gene Synonyms

BRCAI, BRCC1, BROVCA1, IRIS, PNCA4, PPP1R53, PSCP, RNF53

Location
About this transcript

This transcript has 24 exons, is annotated with 39 domains and features, is associated with 28410 variant alleles and maps to 941 oligo probes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
BRCA1-001ENST00000357654.370941863aaENSP00000350283.3
 
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
BRCA1-005ENST00000471181.259361884aaENSP00000418960.2
 
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
BRCA1-006ENST00000493795.157321816aaENSP00000418775.1
 
Protein coding
CCDS11459C4PFY7 C9IZW4 E7EP70
E9PFZ0 G4V4Z7 G4V4Z8
G4V500 G4V502 G4V503
K4JUB1 K4JXS7 K4K7V3
K7EPC7 Q3YB49 Q3YB50
Q3YB53 Q4EW25 Q7KYU6
Q9NQR3 Q9UE29
-GENCODE basic
BRCA1-007ENST00000468300.13273699aaENSP00000417148.1
 
Protein coding
CCDS11455C4PFY7 G1UI37 K4JXS7
P38398 Q92897 Q9NQR3
Q9UE29
NM_007299
NP_009230
GENCODE basic
BRCA1-014ENST00000491747.22379759aaENSP00000420705.2
 
Protein coding
CCDS11454B4DES0 C4PFY7 G1UI37
K4JXS7 K7EPC7 P38398
Q7KYU6 Q92897 Q9NQR3
Q9UE29
NM_007298
NP_009229
GENCODE basic
BRCA1-201ENST00000309486.471141567aaENSP00000310938.4
 
Protein coding
-C4PFY7 C9IZW4 E7EP70
G4V4Z7 G4V4Z8 K4JUB1
K4JXS7 K4K7V3 K7EPC7
Q3YB49 Q3YB50 Q3YB53
Q7KYU6 Q9NQR3 Q9UE29
NM_007297
NP_009228
GENCODE basic
BRCA1-202ENST00000346315.364511624aaENSP00000246907.4
 
Protein coding
-C4PFY7 C9IZW4 E7EMP0
E7EWN5 G1UI37 G4V4Z7
G4V4Z8 G4V500 G4V502
G4V503 K4JUB1 K4K7V3
Q3B891 Q3YB49 Q3YB50
Q3YB53 Q4EW25 Q92897
Q9NQR3
-GENCODE basic
BRCA1-205ENST00000354071.364111598aaENSP00000326002.6
 
Protein coding
-C9IZW4 E7EWN5 F8W8H7
G1UI37 G4V4Z7 G4V4Z8
G4V500 G4V502 G4V503
K4JUB1 K4K7V3 Q3B891
Q3YB49 Q3YB50 Q3YB53
Q4EW25 Q92897 Q9NQR3
-GENCODE basic
BRCA1-204ENST00000352993.33780721aaENSP00000312236.5
 
Protein coding
-C4PFY7 G1UI37 K4JXS7
K7EPC7 P38398 Q7KYU6
Q92897 Q9NQR3 Q9UE29
-GENCODE basic
BRCA1-203ENST00000351666.33444680aaENSP00000338007.3
 
Protein coding
-C4PFY7 G1UI37 G3XAC3
K4JXS7 K7EPC7 Q7KYU6
Q92897 Q9NQR3 Q9UE29
-GENCODE basic
BRCA1-011ENST00000470026.12108649aaENSP00000419274.1
 
Protein coding
-C9IZW4 E7EWN5 G1UI37
G4V500 G4V502 G4V503
Q3B891 Q4EW25 Q92897
-CDS 3' incomplete
BRCA1-004ENST00000477152.11980622aaENSP00000419988.1
 
Protein coding
-C9IZW4 E7ENB7 E9PH68
G1UI37 G4V500 G4V502
G4V503 Q4EW25 Q92897
-CDS 3' incomplete
BRCA1-009ENST00000478531.11972623aaENSP00000420412.1
 
Protein coding
-C4PFY7 E7EQW4 E7EUM2
G1UI37 K4JXS7 K4K7U9
Q92897 Q9UE29
-CDS 3' incomplete
BRCA1-008ENST00000493919.11948572aaENSP00000418819.1
 
Protein coding
-B7ZA85 C4PFY7 K4JXS7
Q9UE29
-CDS 3' incomplete
BRCA1-013ENST00000494123.11612473aaENSP00000419103.1
 
Protein coding
-C9IZW4 G1UI37 G4V500
G4V502 G4V503 Q3B891
Q4EW25 Q92897
-CDS 3' incomplete
BRCA1-015ENST00000484087.11495498aaENSP00000419481.1
 
Protein coding
-C4PFY7 H0Y8B8 K4JXS7
K4K7U9 Q9UE29
-CDS 5' and 3' incomplete
BRCA1-024ENST00000591534.11282354aaENSP00000467329.1
 
Protein coding
-C4PFY7 K4JXS7 K7EPC7
Q7KYU6 Q9NQR3 Q9UE29
-GENCODE basic
BRCA1-018ENST00000473961.1958319aaENSP00000420201.1
 
Protein coding
-G4V500 G4V502 G4V503
K4K7U9 Q4EW25
-CDS 5' and 3' incomplete
BRCA1-019ENST00000487825.1800266aaENSP00000418212.1
 
Protein coding
-H0Y881 -CDS 5' and 3' incomplete
BRCA1-023ENST00000586385.1781173aaENSP00000465818.1
 
Protein coding
-C4PFY7 C6YB45 Q9NQR3
-GENCODE basic
BRCA1-003ENST00000497488.1779177aaENSP00000418986.1
 
Protein coding
-C9IZW4 -CDS 3' incomplete
BRCA1-017ENST00000476777.1769222aaENSP00000417554.1
 
Protein coding
-E7EQW4 G1UI37 K4K7U9
Q92897
-CDS 3' incomplete
BRCA1-022ENST00000461574.1726242aaENSP00000417241.1
 
Protein coding
-G4V4Z7 G4V4Z8 -CDS 5' and 3' incomplete
BRCA1-025ENST00000591849.156396aaENSP00000465347.1
 
Protein coding
-K7EJW3 -GENCODE basic
BRCA1-016ENST00000489037.145598aaENSP00000420781.1
 
Protein coding
-E7ENB7 G1UI37 Q92897
-CDS 3' incomplete
BRCA1-026ENST00000412061.31312437aaENSP00000397145.3
 
Non stop decay
-C9IZW4 G4V500 G4V502
G4V503 Q4EW25
-CDS 5' incomplete
BRCA1-010ENST00000461221.1569363aaENSP00000418548.1
 
Nonsense mediated decay
-G1UI37 P38398 Q92897
--
BRCA1-002ENST00000492859.1158459aaENSP00000420253.1
 
Nonsense mediated decay
-E9PC22 G1UI37 Q92897
--
BRCA1-020ENST00000461798.158263aaENSP00000417988.1
 
Nonsense mediated decay
-G1UI37 P38398 Q92897
--
BRCA1-012ENST00000467274.14497No protein-
 
Retained intron
----
BRCA1-021ENST00000472490.1561No protein-
 
Retained intron
----
Statistics

Exons: 24, Coding exons: 23, Transcript length: 5,936 bps, Translation length: 1,884 residues

CCDS

This transcript is a member of the Human CCDS set: CCDS11456

Version

ENST00000471181.2

Type

Protein coding

Annotation Method

Transcript where the Ensembl genebuild transcript and the Vega manual annotation have the same sequence, for every base pair. See article.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Transcript having exact match between ENSEMBL and HAVANA:
OTTHUMT00000348802 (version 2)
GENCODE basic gene

This transcript is a member of the Gencode basic gene set.

Transcript-based displays