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Gene

DEPDC5

DEP domain containing 5, GATOR1 subcomplex subunit

Summary

Cytogenetic location
22q12.2-q12.3
Coordinates
Chromosome 22: 31,754,019–31,908,033 (GRCh38)
Exons
43 exons across 154 kb
Protein
1,603 amino acids
Also known as
KIAA0645, DEP.5
MANE Select transcript
ENST00000651528.2NM_001242896.3
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.

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

    How DEPDC5 is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome 22, with a bracket where DEPDC5 sits. DEPDC5 and 12 genes near it on chromosome 22, from 31,331,026 to 32,331,025.Chromosome 2222q12.2-q12.3p13p12p11.2p11.1q11.1q11.21q11.22q11.23q12.1q12.2q12.3q13.1q13.2q13.31q13.32q13.3331.4 Mb31.6 Mb31.8 Mb32 Mb32.2 MbPATZ1: 31,325,804–31,346,605, reverse strandPATZ1DRG1: 31,399,515–31,528,740, forward strandDRG1EIF4ENIF1: 31,436,977–31,497,047, reverse strandEIF4ENIF1SFI1: 31,488,688–31,618,588, forward strandSFI1PISD: 31,618,489–31,662,251, reverse strandPISDPRR14L: 31,676,256–31,750,207, reverse strandPRR14LDEPDC5: 31,754,019–31,908,033, forward strandDEPDC5: 31,754,899–31,956,243, forward strandYWHAH: 31,944,465–31,957,603, forward strandYWHAHSLC5A1: 32,043,050–32,113,029, forward strandSLC5A1C22orf42: 32,149,006–32,159,322, reverse strandC22orf42RFPL2: 32,190,433–32,205,073, reverse strandRFPL2SLC5A4: 32,216,637–32,255,347, reverse strandSLC5A4Diagram of DEPDC5: 43 exons on the forward strand of chromosome 22Exon 2: 1 known disease-causing siteExon 3: 2 known disease-causing sitesExon 4: 4 known disease-causing sitesExon 5: 7 known disease-causing sitesExon 6: 10 known disease-causing sitesExon 8: 6 known disease-causing sitesExon 9: 4 known disease-causing sitesExon 10: 2 known disease-causing sitesExon 11: 6 known disease-causing sitesExon 12: 6 known disease-causing sitesExon 13: 10 known disease-causing sitesExon 14: 5 known disease-causing sitesExon 15: 3 known disease-causing sitesExon 16: 6 known disease-causing sitesExon 17: 4 known disease-causing sitesExon 18: 5 known disease-causing sitesExon 19: 1 known disease-causing siteExon 20: 7 known disease-causing sitesExon 21: 8 known disease-causing sitesExon 22: 13 known disease-causing sitesExon 23: 6 known disease-causing sitesExon 24: 2 known disease-causing sitesExon 26: 6 known disease-causing sitesExon 27: 7 known disease-causing sitesExon 28: 6 known disease-causing sitesExon 29: 6 known disease-causing sitesExon 30: 14 known disease-causing sitesExon 31: 3 known disease-causing sitesExon 32: 10 known disease-causing sitesExon 33: 1 known disease-causing siteExon 34: 5 known disease-causing sitesExon 35: 1 known disease-causing siteExon 36: 6 known disease-causing sitesExon 37: 7 known disease-causing sitesExon 38: 9 known disease-causing sitesExon 39: 6 known disease-causing sitesExon 40: 9 known disease-causing sitesExon 41: 5 known disease-causing sitesExon 42: 6 known disease-causing sitesExon 43: 11 known disease-causing sitesExon 1: 31,754,019–31,754,164, 146 basesExon 2: 31,754,862–31,754,979, 118 basesExon 3: 31,758,546–31,758,633, 88 basesExon 4: 31,760,656–31,760,702, 47 basesExon 5: 31,764,975–31,765,060, 86 basesExon 6: 31,766,585–31,766,668, 84 basesExon 7: 31,768,814–31,768,863, 50 basesExon 8: 31,778,099–31,778,168, 70 basesExon 9: 31,783,907–31,783,985, 79 basesExon 10: 31,784,814–31,784,875, 62 basesExon 11: 31,792,033–31,792,102, 70 basesExon 12: 31,792,745–31,792,817, 73 basesExon 13: 31,797,600–31,797,703, 104 basesExon 14: 31,798,582–31,798,656, 75 basesExon 15: 31,802,704–31,802,838, 135 basesExon 16: 31,804,162–31,804,223, 62 basesExon 17: 31,804,842–31,804,915, 74 basesExon 18: 31,806,122–31,806,191, 70 basesExon 19: 31,809,611–31,809,647, 37 basesExon 20: 31,810,521–31,810,641, 121 basesExon 21: 31,814,992–31,815,212, 221 basesExon 22: 31,819,022–31,819,225, 204 basesExon 23: 31,821,502–31,821,637, 136 basesExon 24: 31,822,693–31,822,790, 98 basesExon 25: 31,833,915–31,833,980, 66 basesExon 26: 31,836,972–31,837,155, 184 basesExon 27: 31,838,685–31,838,845, 161 basesExon 28: 31,843,095–31,843,212, 118 basesExon 29: 31,843,645–31,843,812, 168 basesExon 30: 31,845,018–31,845,237, 220 basesExon 31: 31,846,834–31,846,967, 134 basesExon 32: 31,857,445–31,857,553, 109 basesExon 33: 31,861,368–31,861,433, 66 basesExon 34: 31,870,590–31,870,744, 155 basesExon 35: 31,873,255–31,873,332, 78 basesExon 36: 31,874,273–31,874,405, 133 basesExon 37: 31,876,157–31,876,265, 109 basesExon 38: 31,879,525–31,879,752, 228 basesExon 39: 31,893,582–31,893,751, 170 basesExon 40: 31,897,482–31,897,653, 172 basesExon 41: 31,901,742–31,901,802, 61 basesExon 42: 31,905,984–31,906,066, 83 basesExon 43: 31,906,205–31,908,033, 1,829 bases1510152025303540435′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 6.6 kb of the gene's 154 kb; 4,812 of those bases code for the protein.

    How a genome test reads DEPDC5

    306

    positions in DEPDC5 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 154 kb of DEPDC5, introns included, not only the 6.6 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.). DEPDC5 gene: DEP domain containing 5, GATOR1 subcomplex subunit. Retrieved 16 October 2026, from https://dantelabs.com/genes/depdc5

    Vancouver

    Dante Labs. DEPDC5 gene: DEP domain containing 5, GATOR1 subcomplex subunit [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/depdc5

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