Description

T-box 1 [Source:HGNC Symbol;Acc:HGNC:11592]

Synonyms

CATCH22, VCF

Location
INSDC coordinates

chromosome:GRCh38:CM000684.2:19756703:19783593:1

About this gene

This gene has 6 transcripts (splice variants), 50 orthologues, 13 paralogues, is a member of 1 Ensembl protein family and is associated with 6 phenotypes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
TBX1-003ENST000003327102084495aaENSP00000331791
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS13767D9ZGG0 O43435 NM_080647
NP_542378
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.

TBX1-001ENST000003595001538372aaENSP00000352483
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS13765O43435 Q152R5 NM_005992
NP_005983
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 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.

TBX1-002ENST000003297051465398aaENSP00000331176
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS13766O43435 NM_080646
NP_542377
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 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.

TBX1-201ENST000006219391248372aaENSP00000477982
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS13765O43435 Q152R5 -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.

TBX1-004ENST00000475303546No protein-
 
Retained intronAlternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.
---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.

TBX1-005ENST00000484336529No 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.

Gene-based displays