Transcript: ENST00000359500.3 TBX1-001

Description

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

Gene Synonyms

CAFS, CTHM, DGCR, DGS, DORV, TBX1C, TGA, VCFS

Location

About this transcript

This transcript has 10 exons, is annotated with 16 domains and features, is associated with 14291 variant alleles and maps to 454 oligo probes.

Gene

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000332710.4	TBX1-003	2082	495aa	ENSP00000331791.4	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS13767	D9ZGG0 O43435	NM_080647.1	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000359500.3	TBX1-001	1538	372aa	ENSP00000352483.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS13765	O43435 Q152R5	NM_005992.1	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000329705.7	TBX1-002	1465	398aa	ENSP00000331176.7	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS13766	O43435	NM_080646.1	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000475303.1	TBX1-004	546	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000484336.1	TBX1-005	529	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

Summary

Statistics

Exons: 10, Coding exons: 8, Transcript length: 1,538 bps, Translation length: 372 residues

Uniprot

This transcript corresponds to the following Uniprot identifiers: O43435

CCDS

This transcript is a member of the Human CCDS set: CCDS13765

Version

ENST00000359500.3

Type

Protein coding

Annotation Method

Transcript where the Ensembl genebuild transcript and the Havana 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:	OTTHUMT00000318032 (version 1)

GENCODE basic gene

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