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Gene

CHD8

chromodomain helicase DNA binding protein 8

Summary

Cytogenetic location
14q11.2
Coordinates
Chromosome 14: 21,385,199–21,456,123 (GRCh38)
Exons
38 exons across 70.9 kb
Protein
2,581 amino acids
Also known as
KIAA1564, DUPLIN
Previous symbols
HELSNF1
MANE Select transcript
ENST00000646647.2NM_001170629.2
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 reports relevant to this gene

  • Autism Spectrum Disorder

    • A spectrum of developmental disorders that includes autism, and Asperger syndrome. Signs and symptoms include poor communication skills, defective social interactions, and repetitive behaviors.

      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      Early intervention services, behavioral therapy, speech and occupational therapy, psychopharmacology for associated features

    • Autism, susceptibility to (single-gene forms)

      Single-gene contributions to autism, including variants in NLGN3, NLGN4X, PTCHD1, SHANK2, TBR1 and CHD8.

      • 1 GenCC submitter rates it definitive or strong

Broader groupings

How CHD8 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 14, with a bracket where CHD8 sits. CHD8 and 23 genes near it on chromosome 14, from 20,920,661 to 21,920,660.Chromosome 1414q11.2p13p12p11.2p11.1q11.1q11.2q12q13.1q13.2q13.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.11q32.12q32.13q32.2q32.31q32.32q32.3321 Mb21.2 Mb21.4 Mb21.6 Mb21.8 MbRNASE2: 20,955,345–20,956,436, forward strandRNASE2METTL17: 20,989,775–20,997,035, forward strandSLC39A2: 20,999,255–21,001,871, forward strandNDRG2: 21,016,584–21,071,094, reverse strandTPPP2: 21,024,086–21,036,276, forward strandTPPP2RNASE13: 21,032,818–21,034,807, reverse strandRNASE7: 21,042,316–21,044,234, forward strandRNASE8: 21,057,822–21,058,455, forward strandRNASE8ARHGEF40: 21,069,626–21,090,269, forward strandARHGEF40ZNF219: 21,089,468–21,104,722, reverse strandZNF219TMEM253: 21,098,811–21,103,724, forward strandTMEM253OR5AU1: 21,148,370–21,159,060, reverse strandOR5AU1HNRNPC: 21,207,375–21,269,792, reverse strandHNRNPCRPGRIP1: 21,280,083–21,351,301, forward strandRPGRIP1SUPT16H: 21,351,289–21,384,042, reverse strandSUPT16HCHD8: 21,385,199–21,456,123, reverse strandCHD8RAB2B: 21,458,704–21,476,973, reverse strandRAB2BTOX4: 21,476,597–21,504,234, forward strandTOX4METTL3: 21,498,127–21,511,430, reverse strandMETTL3SALL2: 21,521,080–21,537,230, reverse strandSALL2OR10G3: 21,568,520–21,580,076, reverse strandOR10G3OR10G2: 21,633,836–21,634,940, reverse strandOR10G2OR4E2: 21,653,835–21,667,642, forward strandOR4E2OR4E1: 21,667,886–21,673,818, reverse strandOR4E1Diagram of CHD8: 38 exons on the reverse strand of chromosome 14Exon 37: 1 known disease-causing siteExon 34: 3 known disease-causing sitesExon 33: 1 known disease-causing siteExon 32: 7 known disease-causing sitesExon 31: 6 known disease-causing sitesExon 30: 3 known disease-causing sitesExon 28: 1 known disease-causing siteExon 27: 2 known disease-causing sitesExon 26: 2 known disease-causing sitesExon 25: 2 known disease-causing sitesExon 24: 2 known disease-causing sitesExon 23: 5 known disease-causing sitesExon 22: 1 known disease-causing siteExon 20: 3 known disease-causing sitesExon 19: 5 known disease-causing sitesExon 18: 9 known disease-causing sitesExon 17: 1 known disease-causing siteExon 16: 3 known disease-causing sitesExon 15: 1 known disease-causing siteExon 13: 4 known disease-causing sitesExon 12: 2 known disease-causing sitesExon 11: 1 known disease-causing siteExon 10: 1 known disease-causing siteExon 9: 2 known disease-causing sitesExon 7: 1 known disease-causing siteExon 6: 2 known disease-causing sitesExon 5: 1 known disease-causing siteExon 4: 4 known disease-causing sitesExon 3: 5 known disease-causing sitesExon 2: 10 known disease-causing sitesExon 38: 21,385,199–21,386,176, 978 basesExon 37: 21,390,947–21,391,063, 117 basesExon 36: 21,391,463–21,391,642, 180 basesExon 35: 21,391,833–21,391,946, 114 basesExon 34: 21,392,507–21,392,809, 303 basesExon 33: 21,393,106–21,393,254, 149 basesExon 32: 21,393,476–21,394,195, 720 basesExon 31: 21,394,277–21,394,485, 209 basesExon 30: 21,394,912–21,395,119, 208 basesExon 29: 21,395,298–21,395,352, 55 basesExon 28: 21,395,817–21,395,892, 76 basesExon 27: 21,397,823–21,397,952, 130 basesExon 26: 21,399,602–21,399,705, 104 basesExon 25: 21,399,981–21,400,070, 90 basesExon 24: 21,400,151–21,400,307, 157 basesExon 23: 21,400,413–21,400,612, 200 basesExon 22: 21,400,875–21,401,071, 197 basesExon 21: 21,401,403–21,401,513, 111 basesExon 20: 21,401,957–21,402,136, 180 basesExon 19: 21,402,336–21,402,503, 168 basesExon 18: 21,403,017–21,403,212, 196 basesExon 17: 21,403,453–21,403,663, 211 basesExon 16: 21,405,209–21,405,464, 256 basesExon 15: 21,405,721–21,405,864, 144 basesExon 14: 21,406,856–21,407,032, 177 basesExon 13: 21,408,312–21,408,555, 244 basesExon 12: 21,408,704–21,408,825, 122 basesExon 11: 21,409,851–21,409,988, 138 basesExon 10: 21,412,913–21,412,996, 84 basesExon 9: 21,414,301–21,414,418, 118 basesExon 8: 21,414,938–21,414,993, 56 basesExon 7: 21,415,574–21,415,642, 69 basesExon 6: 21,415,725–21,415,907, 183 basesExon 5: 21,426,128–21,426,242, 115 basesExon 4: 21,427,869–21,428,254, 386 basesExon 3: 21,428,964–21,429,335, 372 basesExon 2: 21,430,801–21,431,858, 1,058 basesExon 1: 21,456,032–21,456,123, 92 bases38353025201510515′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 8.5 kb of the gene's 70.9 kb; 7,746 of those bases code for the protein.

How a genome test reads CHD8

100

positions in CHD8 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 70.9 kb of CHD8, introns included, not only the 8.5 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.). CHD8 gene: chromodomain helicase DNA binding protein 8. Retrieved 16 October 2026, from https://dantelabs.com/genes/chd8

Vancouver

Dante Labs. CHD8 gene: chromodomain helicase DNA binding protein 8 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/chd8

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