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).
CCDS11453BRCA1-001 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
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 [01-09-2014]
Glossary entry for APPRIS
APPRIS website
BRCA1-005ENST0000047118159361884 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS11456BRCA1-005 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
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).
CCDS11459BRCA1-006 C4PFY7 C9IZW4
E7EP70 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).
CCDS11455BRCA1-007 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 B4DES0 BRCA1-014
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).
-BRCA1-012 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 BRCA1-029 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).
-BRCA1-011 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).
-BRCA1-004 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).
-BRCA1-009 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).
-B7ZA85 BRCA1-008 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).
-BRCA1-013 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).
-BRCA1-015 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).
-BRCA1-024 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).
-BRCA1-018 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).
-BRCA1-019 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).
-BRCA1-023 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).
-BRCA1-003 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).
-BRCA1-017 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).
-BRCA1-022 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).
-BRCA1-027 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).
-BRCA1-025 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).
-BRCA1-016 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
-BRCA1-026 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.
-BRCA1-010 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.
-BRCA1-002 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.
-BRCA1-020 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.
-BRCA1-028 -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.
-BRCA1-021 -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.

Protein domains for ENSP00000312236.5

Transcript-based displays