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Gene

OTUD6B

OTU deubiquitinase 6B

Summary

Cytogenetic location
8q21.3
Coordinates
Chromosome 8: 91,070,344–91,087,093 (GRCh38)
Exons
7 exons across 16.8 kb
Protein
293 amino acids
Also known as
CGI-77, DUBA5
MANE Select transcript
ENST00000404789.8NM_016023.5
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

    • 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.

        • 3 GenCC submitters rate it definitive or strong

    • Intellectual Disability

      • One of 233 genes linked to it

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

    How OTUD6B is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    Chromosome 8, with a bracket where OTUD6B sits. OTUD6B and 6 genes near it on chromosome 8, from 90,578,719 to 91,578,718.Chromosome 88q21.3p23.3p23.2p23.1p22p21.3p21.2p21.1p12p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q12.1q12.2q12.3q13.1q13.2q13.3q21.11q21.12q21.13q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.390.6 Mb90.8 Mb91 Mb91.2 Mb91.4 MbTMEM64: 90,621,995–90,791,632, reverse strandTMEM64NECAB1: 90,791,115–90,959,393, forward strandNECAB1C8orf88: 90,958,084–90,985,580, reverse strandC8orf88PIP4P2: 90,987,561–91,041,007, reverse strandPIP4P2OTUD6B: 91,070,344–91,087,093, forward strandOTUD6BLRRC69: 91,101,832–91,219,257, forward strandLRRC69SLC26A7: 91,209,494–91,398,155, forward strandSLC26A7Diagram of OTUD6B: 7 exons on the forward strand of chromosome 8Exon 2: 2 known disease-causing sitesExon 3: 1 known disease-causing siteExon 4: 6 known disease-causing sitesExon 5: 2 known disease-causing sitesExon 7: 1 known disease-causing siteExon 1: 91,070,344–91,070,466, 123 basesExon 2: 91,071,138–91,071,289, 152 basesExon 3: 91,073,831–91,073,911, 81 basesExon 4: 91,078,356–91,078,668, 313 basesExon 5: 91,080,669–91,080,730, 62 basesExon 6: 91,084,008–91,084,114, 107 basesExon 7: 91,084,784–91,087,093, 2,310 bases12345675′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 3.1 kb of the gene's 16.8 kb; 882 of those bases code for the protein.

    How a genome test reads OTUD6B

    13

    positions in OTUD6B 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 16.8 kb of OTUD6B, introns included, not only the 3.1 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.). OTUD6B gene: OTU deubiquitinase 6B. Retrieved 17 October 2026, from https://dantelabs.com/genes/otud6b

    Vancouver

    Dante Labs. OTUD6B gene: OTU deubiquitinase 6B [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/otud6b

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