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KCNQ1OT1

Chr 11p15.5

KCNQ1 opposite strand/antisense transcript 1

Aliases:
KvDMR1, KCNQ1-AS2, KvLQT1-AS, LIT1, NCRNA00012
MANE:
ENST00000597346.1

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Predicted protein structure

No predicted 3D structure for KCNQ1OT1. Non-coding genes and pseudogenes typically have no protein product.

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders

    MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
  • Childhood solid tumours

Disease associations (Open Targets)

  • isolated hemihyperplasia

    0.37
  • Hemihypertrophy

    0.37
  • Beckwith-Wiedemann syndrome

    0.20
  • colorectal carcinoma

    0.11
  • neoplasm

    0.11
  • hepatocellular carcinoma

    0.11
  • gastric cancer

    0.11
  • breast cancer

    0.10
  • osteosarcoma

    0.10
  • non-small cell lung carcinoma

    0.10

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

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.