Skip to content
Use your HSA or FSA funds

Gene

TWIST1

twist family bHLH transcription factor 1

Summary

Cytogenetic location
7p21.1
Coordinates
Chromosome 7: 19,115,468–19,117,636 (GRCh38)
Exons
2 exons across 2.2 kb
Protein
202 amino acids
Also known as
SCS, H-twist, BPES2, bHLHa38, CRS1
Previous symbols
ACS3, BPES3, TWIST, CRS
MANE Select transcript
ENST00000242261.6NM_000474.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Syndromic Craniosynostosis

    • Conditions combining early skull suture closure with other features, including Apert, Crouzon, Pfeiffer, Muenke and Saethre-Chotzen syndromes, caused by genes such as FGFR2, FGFR3, FGFR1, TWIST1, TCF12 and ERF.

      • ClinGen rates the link definitive
      • 6 GenCC submitters rate it definitive or strong
      What knowing changes

      Early diagnosis allows timely surgery and monitoring of head growth, vision and hearing; milder forms such as Muenke syndrome can go unrecognised in adults, which is relevant to family planning.

How TWIST1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 7, with a bracket where TWIST1 sits. TWIST1 and 2 genes near it on chromosome 7, from 18,616,552 to 19,616,551.Chromosome 77p21.1p22.3p22.2p22.1p21.3p21.2p21.1p15.3p15.2p15.1p14.3p14.2p14.1p13p12.3p12.2p12.1p11.2p11.1q11.1q11.21q11.22q11.23q21.11q21.12q21.13q21.2q21.3q22.1q22.2q22.3q31.1q31.2q31.31q31.32q31.33q32.1q32.2q32.3q33q34q35q36.1q36.2q36.318.8 Mb19 Mb19.2 Mb19.4 Mb19.6 MbHDAC9: 18,086,588–19,002,416, forward strandHDAC9TWIST1: 19,115,468–19,117,636, reverse strandTWIST1FERD3L: 19,144,782–19,145,421, reverse strandFERD3LDiagram of TWIST1: 2 exons on the reverse strand of chromosome 7Exon 1: 66 known disease-causing sitesExon 2: 19,115,468–19,116,131, 664 basesExon 1: 19,116,671–19,117,636, 966 bases215′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 1.6 kb of the gene's 2.2 kb; 609 of those bases code for the protein.

How a genome test reads TWIST1

66

positions in TWIST1 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 2.2 kb of TWIST1, introns included, not only the 1.6 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). TWIST1 gene: twist family bHLH transcription factor 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/twist1

Vancouver

Dante Labs. TWIST1 gene: twist family bHLH transcription factor 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/twist1

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test