Description

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

Synonyms

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

Location
INSDC coordinates

chromosome:GRCh38:CM000669.2:19020991:19117672:1

About this gene

This gene has 3 transcripts (splice variants), 50 orthologues, 10 paralogues, is a member of 2 Ensembl protein families and is associated with 8 phenotypes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
TWIST1-001ENST000002422611666202aaENSP00000242261
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS5367Q15672 NM_000474
NP_000465
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 P1

PRINCIPAL1 - APPRIS candidate principal isoform.

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

TWIST1-003ENST00000354571589135aaENSP00000346582
 
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.
-H7BY00 -CDS 5' incomplete5' truncation in transcript evidence prevents annotation of the start 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.

TWIST1-002ENST0000044368752770aaENSP00000416986
 
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.
-H7C4D7 -CDS 5' incomplete5' truncation in transcript evidence prevents annotation of the start 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.

Gene-based displays