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ERG

Chr 21q22.2

ETS transcription factor ERG

Aliases:
erg-3, p55
MANE:
ENST00000288319.12

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Primary lymphoedema

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Fetal anomalies

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

  • lymphatic malformation 14

    0.60
  • B-cell acute lymphoblastic leukemia

    0.48
  • multiple sclerosis

    0.47
  • osteoarthritis, hip

    0.45
  • neurodegenerative disease

    0.43
  • total hip arthroplasty

    0.42
  • prostate carcinoma

    0.40
  • abdominal aortic aneurysm

    0.40
  • prostate intraepithelial neoplasia

    0.39
  • Dupuytren Contracture

    0.39

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

Protein function (UniProt)

Transcriptional regulator ERG

Transcriptional regulator. May participate in transcriptional regulation through the recruitment of SETDB1 histone methyltransferase and subsequent modification of local chromatin structure

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.