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Gene

CPLX1

complexin 1

Summary

Cytogenetic location
4p16.3
Coordinates
Chromosome 4: 784,957–826,129 (GRCh38)
Exons
4 exons across 41.2 kb
Protein
134 amino acids
Also known as
CPX-I
MANE Select transcript
ENST00000304062.11NM_006651.4
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

    • Epilepsy (Full Panel)

      • Epilepsy

        One of 171 genes linked to it

        A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions.

        • 1 GenCC submitter rates it definitive or strong

    How CPLX1 is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome 4, with a bracket where CPLX1 sits. CPLX1 and 19 genes near it on chromosome 4, from 305,543 to 1,305,542.Chromosome 44p16.3p16.3p16.2p16.1p15.33p15.32p15.31p15.2p15.1p14p13p12p11q11q12q13.1q13.2q13.3q21.1q21.21q21.22q21.23q21.3q22.1q22.2q22.3q23q24q25q26q27q28.1q28.2q28.3q31.1q31.21q31.22q31.23q31.3q32.1q32.2q32.3q33q34.1q34.2q34.3q35.1q35.20.4 Mb0.6 Mb0.8 Mb1 Mb1.2 MbZNF141: 337,762–384,868, forward strandZNF141ZNF721: 391,179–499,159, reverse strandZNF721PIGG: 499,195–541,173, forward strandPIGGTMEM271: 573,880–576,295, reverse strandTMEM271PDE6B: 625,559–670,782, forward strandPDE6BATP5ME: 672,423–674,400, reverse strandATP5MEMYL5: 673,519–682,033, forward strandMYL5SLC49A3: 681,824–689,548, reverse strandSLC49A3PCGF3: 705,748–770,089, forward strandPCGF3CPLX1: 784,957–826,129, reverse strandCPLX1GAK: 849,275–932,411, reverse strandGAKTMEM175: 932,153–958,989, forward strandTMEM175DGKQ: 958,884–986,895, reverse strandDGKQSLC26A1: 978,992–997,659, reverse strandSLC26A1IDUA: 986,997–1,008,344, forward strandIDUAFGFRL1: 1,008,649–1,026,901, forward strandFGFRL1RNF212: 1,056,247–1,113,697, reverse strandRNF212SPON2: 1,166,928–1,208,962, reverse strandSPON2CTBP1: 1,211,434–1,250,333, reverse strandCTBP1MAEA: 1,289,839–1,340,148, forward strandMAEADiagram of CPLX1: 4 exons on the reverse strand of chromosome 4Exon 4: 2 known disease-causing sitesExon 3: 1 known disease-causing siteExon 4: 784,957–786,698, 1,742 basesExon 3: 792,433–792,608, 176 basesExon 2: 824,492–824,601, 110 basesExon 1: 826,046–826,129, 84 bases43215′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 2.1 kb of the gene's 41.2 kb; 405 of those bases code for the protein.

    How a genome test reads CPLX1

    3

    positions in CPLX1 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 41.2 kb of CPLX1, introns included, not only the 2.1 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.). CPLX1 gene: complexin 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/cplx1

    Vancouver

    Dante Labs. CPLX1 gene: complexin 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/cplx1

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