Gene: TWIST1 ENSG00000122691

Description

twist family bHLH transcription factor 1 [Source:HGNC Symbol;Acc:12428]

Gene Synonyms

ACS3, BHLHA38, BPES2, BPES3, CRS1, H-twist, SCS, TWIST, bHLHa38

Location

GRCh37:CM000669.1

About this gene

This gene has 3 transcripts (splice variants), 11 paralogues and is associated with 8 phenotypes.

Transcripts

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000242261.5	TWIST1-001	1666	202aa	ENSP00000242261.5	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS5367	Q15672	NM_000474.3	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000354571.5	TWIST1-003	589	135aa	ENSP00000346582.5	Nonsense mediated decay		-	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000443687.1	TWIST1-002	527	70aa	ENSP00000416986.1	Nonsense mediated decay		-	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,

EMBL-EBI User Survey 2024