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Gene

SKI

SKI proto-oncogene

Summary

Cytogenetic location
1p36.33-p36.32
Coordinates
Chromosome 1: 2,228,319–2,310,213 (GRCh38)
Exons
7 exons across 81.9 kb
Protein
728 amino acids
Inheritance
Autosomal dominant
MANE Select transcript
ENST00000378536.5NM_003036.4
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 reports relevant to this gene

  • Marfan Like Syndromes

    • Shprintzen-Goldberg SyndromeAutosomal dominant

      Shprintzen-Goldberg syndrome (SGS) is a very rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability.

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

  • 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.

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How SKI is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 1, with a bracket where SKI sits. SKI and 18 genes near it on chromosome 1, from 1,769,266 to 2,769,265.Chromosome 11p36.33-p36.32p36.33p36.32p36.31p36.23p36.22p36.21p36.13p36.12p36.11p35.3p35.2p35.1p34.3p34.2p34.1p33p32.3p32.2p32.1p31.3p31.2p31.1p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q21.1q21.2q21.3q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q31.1q31.2q31.3q32.1q32.2q32.3q41q42.11q42.12q42.13q42.2q42.3q43q441.8 Mb2 Mb2.2 Mb2.4 Mb2.6 MbNADK: 1,751,232–1,780,544, reverse strandNADKGNB1: 1,785,285–1,892,292, reverse strandGNB1CALML6: 1,915,081–1,917,296, forward strandCALML6TMEM52: 1,917,589–1,919,329, reverse strandTMEM52CFAP74: 1,921,951–2,003,837, reverse strandCFAP74GABRD: 2,019,305–2,030,758, forward strandGABRDPRKCZ: 2,050,396–2,185,721, forward strandPRKCZFAAP20: 2,184,411–2,212,720, reverse strandFAAP20SKI: 2,228,319–2,310,213, forward strandSKIMORN1: 2,319,208–2,391,722, reverse strandMORN1RER1: 2,390,670–2,405,444, forward strandRER1PEX10: 2,403,784–2,413,797, reverse strandPEX10PLCH2: 2,425,980–2,505,807, forward strandPLCH2PANK4: 2,508,531–2,526,617, reverse strandPANK4HES5: 2,528,745–2,530,271, reverse strandHES5TNFRSF14: 2,554,244–2,565,382, forward strandTNFRSF14PRXL2B: 2,586,491–2,591,470, forward strandPRXL2BMMEL1: 2,590,639–2,633,019, reverse strandMMEL1TTC34: 2,636,986–2,801,693, reverse strandTTC34Diagram of SKI: 7 exons on the forward strand of chromosome 1Exon 1: 17 known disease-causing sitesExon 1: 2,228,319–2,229,735, 1,417 basesExon 2: 2,302,978–2,303,103, 126 basesExon 3: 2,303,285–2,303,400, 116 basesExon 4: 2,303,840–2,304,102, 263 basesExon 5: 2,304,293–2,304,585, 293 basesExon 6: 2,306,020–2,306,250, 231 basesExon 7: 2,306,577–2,310,213, 3,637 bases1575′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 6.1 kb of the gene's 81.9 kb; 2,187 of those bases code for the protein.

How a genome test reads SKI

18

positions in SKI 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 81.9 kb of SKI, introns included, not only the 6.1 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.). SKI gene: SKI proto-oncogene. Retrieved 17 October 2026, from https://dantelabs.com/genes/ski

Vancouver

Dante Labs. SKI gene: SKI proto-oncogene [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/ski

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