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ORC6

Chr 16q11.2

origin recognition complex subunit 6

MANE:
ENST00000219097.7

Annotations refreshed 11 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal
  • Deafness and congenital structural abnormalities

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • IUGR and IGF abnormalities

    BIALLELIC, autosomal or pseudoautosomal
  • Severe microcephaly

    BIALLELIC, autosomal or pseudoautosomal
  • Skeletal dysplasia

    BIALLELIC, autosomal or pseudoautosomal
  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal
  • Monogenic short stature

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • Ear-patella-short stature syndrome

    0.78
  • neurodegenerative disease

    0.52
  • Meier-Gorlin syndrome

    0.38
  • microcephalic primordial dwarfism

    0.37
  • hereditary disease

    0.19
  • neoplasm

    0.10
  • cancer

    0.10
  • central nervous system cancer

    0.09
  • glioma

    0.09
  • non-small cell lung carcinoma

    0.09

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Origin recognition complex subunit 6

Component of the origin recognition complex (ORC) that binds origins of replication. DNA-binding is ATP-dependent. The specific DNA sequences that define origins of replication have not been identified yet. ORC is required to assemble the pre-replication complex necessary to initiate DNA replication. Does not bind histone H3 and H4 trimethylation marks H3K9me3, H3K27me3 and H4K20me3

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.