Gene: TBX1 ENSG00000184058

Description

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

Gene Synonyms

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

Location

GRCh37:CM000684.1

About this gene

This gene has 5 transcripts (splice variants), 12 paralogues and is associated with 8 phenotypes.

Transcripts

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