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Gene

CCDC47

coiled-coil domain containing 47

Summary

Cytogenetic location
17q23.3
Coordinates
Chromosome 17: 63,745,255–63,773,597 (GRCh38)
Exons
13 exons across 28.3 kb
Protein
483 amino acids
Also known as
GK001
MANE Select transcript
ENST00000225726.10NM_020198.3
Locus type
Protein-coding
  • Very high
  • Confident
  • Low
  • Very low

Curated reports relevant to this gene

No Genome Test report reads CCDC47 yet. The test sequences your whole genome, so your data includes it all the same.

How CCDC47 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 17, with a bracket where CCDC47 sits. CCDC47 and 28 genes near it on chromosome 17, from 63,259,426 to 64,259,425.Chromosome 1717q23.3p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.363.4 Mb63.6 Mb63.8 Mb64 Mb64.2 MbTANC2: 62,966,201–63,427,703, forward strandTANC2CYB561: 63,432,298–63,447,108, reverse strandCYB561ACE: 63,477,058–63,498,380, forward strandACE: 63,484,823–63,521,848, forward strandKCNH6: 63,523,310–63,548,987, forward strandKCNH6DCAF7: 63,550,222–63,594,286, forward strandDCAF7: 63,550,603–63,608,347, forward strandTACO1: 63,600,879–63,612,023, forward strandTACO1MAP3K3: 63,622,379–63,696,310, forward strandMAP3K3STRADA: 63,682,336–63,742,005, reverse strandSTRADALIMD2: 63,695,883–63,701,183, reverse strandLIMD2: 63,702,845–63,752,097, reverse strandCCDC47: 63,745,255–63,773,597, reverse strandCCDC47DDX42: 63,773,603–63,820,451, forward strandDDX42FTSJ3: 63,819,113–63,830,012, reverse strandFTSJ3PSMC5: 63,827,082–63,832,244, forward strandPSMC5SMARCD2: 63,832,078–63,843,065, reverse strandSMARCD2CSH2: 63,872,007–63,873,769, reverse strandCSH2GH2: 63,880,205–63,881,970, reverse strandGH2CSH1: 63,894,906–63,896,667, reverse strandCSH1CSHL1: 63,909,596–63,911,348, reverse strandCSHL1GH1: 63,917,200–63,918,839, reverse strandGH1: 63,917,203–63,931,385, reverse strandCD79B: 63,928,738–63,932,629, reverse strandSCN4A: 63,938,554–63,972,918, reverse strandPRR29: 63,998,344–64,004,305, forward strandPRR29ICAM2: 64,002,594–64,020,640, reverse strandICAM2ERN1: 64,039,080–64,130,819, reverse strandERN1TEX2: 64,147,227–64,263,293, reverse strandTEX2Diagram of CCDC47: 13 exons on the reverse strand of chromosome 17Exon 12: 1 known disease-causing siteExon 5: 2 known disease-causing sitesExon 13: 63,745,255–63,746,961, 1,707 basesExon 12: 63,751,940–63,752,107, 168 basesExon 11: 63,752,320–63,752,429, 110 basesExon 10: 63,752,741–63,752,799, 59 basesExon 9: 63,754,433–63,754,518, 86 basesExon 8: 63,756,240–63,756,350, 111 basesExon 7: 63,756,469–63,756,570, 102 basesExon 6: 63,760,914–63,760,979, 66 basesExon 5: 63,761,230–63,761,351, 122 basesExon 4: 63,764,016–63,764,190, 175 basesExon 3: 63,764,740–63,764,847, 108 basesExon 2: 63,765,912–63,766,194, 283 basesExon 1: 63,773,412–63,773,597, 186 bases131210864215′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 3.3 kb of the gene's 28.3 kb; 1,452 of those bases code for the protein.

Sequencing CCDC47

3

positions in CCDC47 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 28.3 kb of CCDC47, introns included, not only the 3.3 kb of exons.

ClinVar pathogenic variants (3)

The CCDC47 variants ClinVar classifies pathogenic or likely pathogenic for any condition, reviewed by at least one submitter with criteria, and the most reviewed of them. It is ClinVar's public record of the gene, never a result.

  • Pathogenic 1
  • Likely pathogenic 2
VariantConditionsClinVar classificationReview status
NM_020198.3(CCDC47):c.563del (p.Asn188fs) (opens in a new tab)trichohepatoneurodevelopmental syndromePathogenic1 star out of 4 criteria provided, single submitter
NM_020198.3(CCDC47):c.1211_1232dup (p.Ala411_Arg412insLysSerArgTer) (opens in a new tab)trichohepatoneurodevelopmental syndromeLikely pathogenic1 star out of 4 criteria provided, single submitter
NM_020198.3(CCDC47):c.567_570del (p.Glu190fs) (opens in a new tab)trichohepatoneurodevelopmental syndromeLikely pathogenic1 star out of 4 criteria provided, single submitter

Traits linked to CCDC47

The Human Phenotype Ontology lists these as features of the rare conditions CCDC47 can cause. Each trait's page lists the other genes linked to it.

External links

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.
  • 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 2026.10.18-8b139e39.

Cite this page

APA

Dante Labs. (n.d.). CCDC47 gene: coiled-coil domain containing 47. Retrieved 18 October 2026, from https://dantelabs.com/genes/ccdc47

Vancouver

Dante Labs. CCDC47 gene: coiled-coil domain containing 47 [Internet]. [cited 18 October 2026]. Available from: https://dantelabs.com/genes/ccdc47

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