Description

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

Synonyms

BRCC1, FANCS, PPP1R53, RNF53

Location
About this transcript

This transcript has 18 exons, is annotated with 13 domains and features, is associated with 1082 variations and maps to 21 oligo probes.

Gene
NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
BRCA1-001ENST0000035765470941863aaENSP00000350283
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS11453P38398 NM_007294
NP_009225
TSL:1

Transcript Support Level 1, when transcripts 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 P4

PRINCIPAL4 - APPRIS candidate principal isoform (longest CCDS).

APPRIS is a system to annotate alternatively spliced transcripts based on a range of computational methods.

BRCA1-005ENST0000047118159361884aaENSP00000418960
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS11456P38398 NM_007300
NP_009231
TSL:1

Transcript Support Level 1, when transcripts 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).
BRCA1-006ENST0000049379557321816aaENSP00000418775
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS11459E9PFZ0 NM_007297
NP_009228
TSL:5

Transcript Support Level 5, for transcripts that are not supported at all by either an mRNA or an 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.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).
BRCA1-007ENST000004683003273699aaENSP00000417148
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS11455P38398 NM_007299
NP_009230
TSL:1

Transcript Support Level 1, when transcripts 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).
BRCA1-014ENST000004917472379759aaENSP00000420705
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS11454A0A024R1V0 P38398 NM_007298
NP_009229
TSL:5

Transcript Support Level 5, for transcripts that are not supported at all by either an mRNA or an 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.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).APPRIS ALT2

ALTERNATIVE2 - APPRIS candidate principal isoform that appears to be conserved in fewer than three tested non-primate species.

APPRIS is a system to annotate alternatively spliced transcripts based on a range of computational methods.

BRCA1-012ENST0000035407144971399aaENSP00000326002
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-Q5YLB2 -TSL:1

Transcript Support Level 1, when transcripts 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).
BRCA1-029ENST000003529933668721aaENSP00000312236
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-A0A024R1Z8 P38398 -TSL:5

Transcript Support Level 5, for transcripts that are not supported at all by either an mRNA or an 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.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).
BRCA1-011ENST000004700262108649aaENSP00000419274
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-E7EWN5 -CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.TSL:1

Transcript Support Level 1, when transcripts 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.

BRCA1-004ENST000004771521980622aaENSP00000419988
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-E9PH68 -CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.TSL:1

Transcript Support Level 1, when transcripts 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.

BRCA1-009ENST000004785311972623aaENSP00000420412
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-E7EUM2 -CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.TSL:1

Transcript Support Level 1, when transcripts 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.

BRCA1-008ENST000004939191948572aaENSP00000418819
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-B7ZA85 -CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.TSL:2

Transcript Support Level 2, when transcripts are supported by multiple ESTs or by an mRNA 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.

BRCA1-013ENST000004941231612473aaENSP00000419103
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-Q3B891 -CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.TSL:1

Transcript Support Level 1, when transcripts 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.

BRCA1-015ENST000004840871495498aaENSP00000419481
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-H0Y8B8 -CDS 5' and 3' incomplete5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.TSL:5

Transcript Support Level 5, for transcripts that are not supported at all by either an mRNA or an 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.

BRCA1-024ENST000005915341282354aaENSP00000467329
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-K7EPC7 -TSL:1

Transcript Support Level 1, when transcripts 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).
BRCA1-018ENST00000473961958319aaENSP00000420201
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-H0Y8D8 -CDS 5' and 3' incomplete5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.TSL:2

Transcript Support Level 2, when transcripts are supported by multiple ESTs or by an mRNA 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.

BRCA1-019ENST00000487825800266aaENSP00000418212
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-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

Transcript Support Level 5, for transcripts that are not supported at all by either an mRNA or an 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.

BRCA1-023ENST00000586385781173aaENSP00000465818
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-C6YB45 -TSL:1

Transcript Support Level 1, when transcripts 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).
BRCA1-003ENST00000497488779177aaENSP00000418986
 
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

Transcript Support Level 1, when transcripts 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.

BRCA1-017ENST00000476777769222aaENSP00000417554
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-E7EQW4 -CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.TSL:5

Transcript Support Level 5, for transcripts that are not supported at all by either an mRNA or an 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.

BRCA1-022ENST00000461574726242aaENSP00000417241
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-H0Y850 -CDS 5' and 3' incomplete5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.TSL:2

Transcript Support Level 2, when transcripts are supported by multiple ESTs or by an mRNA 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.

BRCA1-027ENST0000061846971823aaENSP00000478114
 
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

Transcript Support Level 1, when transcripts 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.

BRCA1-025ENST0000059184956396aaENSP00000465347
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-K7EJW3 -TSL:1

Transcript Support Level 1, when transcripts 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).
BRCA1-016ENST0000048903745598aaENSP00000420781
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-E7ENB7 -CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.TSL:4

Transcript Support Level 4, for transcripts supported by an EST 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.

BRCA1-026ENST000004120611312437aaENSP00000397145
 
Non stop decay
-A0A0A0MSN1 -CDS 5' incomplete5' truncation in transcript evidence prevents annotation of the start of the CDS.TSL:1

Transcript Support Level 1, when transcripts 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.

BRCA1-010ENST00000461221569363aaENSP00000418548
 
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.
-P38398 -TSL:1

Transcript Support Level 1, when transcripts 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.

BRCA1-002ENST00000492859158459aaENSP00000420253
 
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 -TSL:1

Transcript Support Level 1, when transcripts 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.

BRCA1-020ENST0000046179858263aaENSP00000417988
 
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.
-P38398 -TSL:3

Transcript Support Level 3, when transcripts are supported by a single EST only.

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

Transcript Support Level 5, for transcripts that are not supported at all by either an mRNA or an 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.

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

Transcript Support Level 3, when transcripts are supported by a single EST only.

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: 18 Coding exons: 17 Transcript length: 1,972 bps Translation length: 623 residues

Transcript Support Level (TSL)

TSL:1

Ensembl version

ENST00000478531.4

Type

Novel protein coding

Annotation 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