Description

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

Synonyms

BRCC1, PPP1R53, RNF53

Location
Gene

This transcript is a product of gene ENSG00000012048

This gene has 29 transcripts (splice variants) Show transcript tableHide transcript table

NameTranscript IDbpProteinBiotypeCCDSUniProtRefSeqFlags
BRCA1-001ENST0000035765470941863 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS11453A0A068BCA1 A0A068BDT6 A0A068BDU7
A0A068BDV0 A0A068BEU9 A0A068BI53
C4PFY7 C9IZW4 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
TSL:1

TSL1: All splice junctions of the transcript are supported by at least one non-suspect mRNA.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).APPRIS PIAPPRIS principal isoform
Glossary entry for APPRIS
APPRIS website
BRCA1-005ENST0000047118159361884 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS11456A0A068BCA1 A0A068BDT6 A0A068BDU7
A0A068BDV0 A0A068BEU9 A0A068BI53
C4PFY7 C9IZW4 E7EWN5
G1UI37 G4V4Z7 G4V4Z8
G4V500 G4V502 G4V503
K4JUB1 K4JXS7 K4K7V3
K7EPC7 P38398 Q3B891
Q3YB49 Q3YB50 Q3YB53
Q4EW25 Q7KYU6 Q92897
Q9NQR3 Q9UE29
NM_007300
NP_009231
TSL:1

TSL1: All splice junctions of the transcript are supported by at least one non-suspect mRNA.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).
BRCA1-006ENST0000049379557321816 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS11459A0A068BCA1 A0A068BDT6 A0A068BDU7
A0A068BEU9 A0A068BI53 C4PFY7
C9IZW4 E9PFZ0 G4V4Z7
G4V4Z8 G4V500 G4V502
G4V503 K4JUB1 K4JXS7
K4K7V3 K7EPC7 Q3YB49
Q3YB50 Q3YB53 Q4EW25
Q7KYU6 Q9NQR3 Q9UE29
NM_007297
NP_009228
TSL:5

TSL5: No single transcript (mRNA or EST) supports this transcript model's structure.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).
BRCA1-007ENST000004683003273699 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS11455A0A068BCB8 A0A068BDU7 A0A068BDV0
A0A068BI53 C4PFY7 G1UI37
K4JXS7 P38398 Q92897
Q9NQR3 Q9UE29
NM_007299
NP_009230
TSL:1

TSL1: All splice junctions of the transcript are supported by at least one non-suspect mRNA.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).
BRCA1-014ENST000004917472379759 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS11454A0A024R1V0 A0A068BDU7 A0A068BDV0
A0A068BI53 B4DES0 C4PFY7
G1UI37 K4JXS7 K7EPC7
P38398 Q7KYU6 Q92897
Q9NQR3 Q9UE29
NM_007298
NP_009229
TSL:5

TSL5: No single transcript (mRNA or EST) supports this transcript model's structure.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).
BRCA1-012ENST0000035407144971399 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-A0A068BCA1 A0A068BDT6 A0A068BDU7
A0A068BDV0 A0A068BEU9 A0A068BI53
C9IZW4 E7EWN5 G1UI37
G4V4Z7 G4V4Z8 G4V500
G4V502 G4V503 K4JUB1
K4K7V3 Q3B891 Q3YB49
Q3YB50 Q3YB53 Q4EW25
Q5YLB2 Q92897
-TSL:1

TSL1: All splice junctions of the transcript are supported by at least one non-suspect mRNA.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).
BRCA1-029ENST000003529933668721 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-A0A024R1Z8 A0A068BDU7 A0A068BDV0
A0A068BI53 C4PFY7 G1UI37
K4JXS7 K7EPC7 P38398
Q7KYU6 Q92897 Q9NQR3
Q9UE29
-TSL:5

TSL5: No single transcript (mRNA or EST) supports this transcript model's structure.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).
BRCA1-011ENST000004700262108649 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-A0A068BDU7 A0A068BDV0 A0A068BEU9
A0A068BI53 C9IZW4 E7EWN5
G1UI37 G4V500 G4V502
G4V503 Q3B891 Q4EW25
Q92897
-CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.TSL:1

TSL1: All splice junctions of the transcript are supported by at least one non-suspect mRNA.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

BRCA1-004ENST000004771521980622 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-A0A068BDU7 A0A068BEU9 A0A068BI53
A0A068BI55 C9IZW4 E7ENB7
E9PH68 G1UI37 G4V500
G4V502 G4V503 Q4EW25
Q92897
-CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.TSL:1

TSL1: All splice junctions of the transcript are supported by at least one non-suspect mRNA.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

BRCA1-009ENST000004785311972623 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-A0A068BDV0 A0A068BI53 C4PFY7
E7EQW4 E7EUM2 G1UI37
K4JXS7 K4K7U9 Q92897
Q9UE29
-CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.TSL:1

TSL1: All splice junctions of the transcript are supported by at least one non-suspect mRNA.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

BRCA1-008ENST000004939191948572 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-A0A068BDU7 A0A068BI53 B7ZA85
C4PFY7 K4JXS7 Q9UE29
-CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.TSL:2

TSL2: The best supporting mRNA is flagged as suspect or the support is from multiple ESTs.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

BRCA1-013ENST000004941231612473 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-A0A068BDU7 A0A068BDV0 A0A068BEU9
A0A068BI53 C9IZW4 G1UI37
G4V500 G4V502 G4V503
Q3B891 Q4EW25 Q92897
-CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.TSL:1

TSL1: All splice junctions of the transcript are supported by at least one non-suspect mRNA.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

BRCA1-015ENST000004840871495498 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-C4PFY7 H0Y8B8 K4JXS7
K4K7U9 Q9UE29
-CDS 5' and 3' incomplete5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.TSL:5

TSL5: No single transcript (mRNA or EST) supports this transcript model's structure.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

BRCA1-024ENST000005915341282354 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-C4PFY7 K4JXS7 K7EPC7
Q7KYU6 Q9NQR3 Q9UE29
-TSL:1

TSL1: All splice junctions of the transcript are supported by at least one non-suspect mRNA.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).
BRCA1-018ENST00000473961958319 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-A0A068BEU9 G4V500 G4V502
G4V503 K4K7U9 Q4EW25
-CDS 5' and 3' incomplete5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.TSL:2

TSL2: The best supporting mRNA is flagged as suspect or the support is from multiple ESTs.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

BRCA1-019ENST00000487825800266 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-A0A068BDU7 H0Y881 -CDS 5' and 3' incomplete5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.TSL:5

TSL5: No single transcript (mRNA or EST) supports this transcript model's structure.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

BRCA1-023ENST00000586385781173 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-C4PFY7 C6YB45 Q9NQR3
-TSL:1

TSL1: All splice junctions of the transcript are supported by at least one non-suspect mRNA.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).
BRCA1-003ENST00000497488779177 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-C9IZW4 -CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.TSL:1

TSL1: All splice junctions of the transcript are supported by at least one non-suspect mRNA.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

BRCA1-017ENST00000476777769222 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-A0A068BDV0 A0A068BI53 E7EQW4
G1UI37 K4K7U9 Q92897
-CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.TSL:5

TSL5: No single transcript (mRNA or EST) supports this transcript model's structure.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

BRCA1-022ENST00000461574726242 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-G4V4Z7 G4V4Z8 -CDS 5' and 3' incomplete5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.TSL:2

TSL2: The best supporting mRNA is flagged as suspect or the support is from multiple ESTs.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

BRCA1-027ENST0000061846971823 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-G1UI37 -CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.TSL:1

TSL1: All splice junctions of the transcript are supported by at least one non-suspect mRNA.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

BRCA1-025ENST0000059184956396 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-K7EJW3 -TSL:1

TSL1: All splice junctions of the transcript are supported by at least one non-suspect mRNA.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).
BRCA1-016ENST0000048903745598 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-A0A068BI53 A0A068BI55 E7ENB7
G1UI37 Q92897
-CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.TSL:4

TSL4:The best supporting EST for this transcript is flagged as suspect.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

BRCA1-026ENST000004120611312437 aa
 
Non stop decay
-A0A068BEU9 C9IZW4 G4V500
G4V502 G4V503 Q4EW25
-CDS 5' incomplete5' truncation in transcript evidence prevents annotation of the start of the CDS.TSL:1

TSL1: All splice junctions of the transcript are supported by at least one non-suspect mRNA.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

BRCA1-010ENST00000461221569363 aa
 
Nonsense mediated decayTranscript is thought to undergo nonsense mediated decay, a process which detects nonsense mutations and prevents the expression of truncated or erroneous proteins.
-A0A068BDV0 G1UI37 P38398
Q92897
-TSL:1

TSL1: All splice junctions of the transcript are supported by at least one non-suspect mRNA.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

BRCA1-002ENST00000492859158459 aa
 
Nonsense mediated decayTranscript is thought to undergo nonsense mediated decay, a process which detects nonsense mutations and prevents the expression of truncated or erroneous proteins.
-E9PC22 G1UI37 Q92897
-TSL:1

TSL1: All splice junctions of the transcript are supported by at least one non-suspect mRNA.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

BRCA1-020ENST0000046179858263 aa
 
Nonsense mediated decayTranscript is thought to undergo nonsense mediated decay, a process which detects nonsense mutations and prevents the expression of truncated or erroneous proteins.
-A0A068BDV0 G1UI37 P38398
Q92897
-TSL:3

TSL3:The only support for this transcript is from a single EST.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

BRCA1-028ENST00000621897375No protein
 
Processed transcriptTranscripts that don't contain an open reading frame (ORF) and cannot be placed in one of the other categories.
---TSL:5

TSL5: No single transcript (mRNA or EST) supports this transcript model's structure.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

BRCA1-021ENST00000472490561No protein
 
Retained intronAlternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.
---TSL:3

TSL3:The only support for this transcript is from a single EST.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

Statistics

Exons: 10 Coding exons: 9 Transcript length: 2,108 bps Translation length: 649 residues

Transcript Support Level

1

Ensembl version

ENST00000470026.3

Type

Known protein coding

Prediction Method

Manual annotation (determined on a case-by-case basis) from the Havana project.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Havana transcript:

Transcript-based displays