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FILIP1

Chr 6q14.1

filamin A interacting protein 1

Aliases:
FILIP, KIAA1275
MANE:
ENST00000237172.12

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Arthrogryposis

    BIALLELIC, autosomal or pseudoautosomal
  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal
  • Severe microcephaly

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • neuromuscular disorder, congenital, with dysmorphic facies

    0.70
  • osteoarthritis, hip

    0.39
  • osteoarthritis

    0.37
  • Intellectual disability

    0.37
  • arthrogryposis multiplex congenita

    0.37
  • osteoarthritis, knee

    0.31
  • total hip arthroplasty

    0.31
  • major depressive disorder

    0.28
  • atrial fibrillation

    0.26
  • medical procedure

    0.25

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

Protein function (UniProt)

Filamin-A-interacting protein 1

By acting through a filamin-A/F-actin axis, it controls the start of neocortical cell migration from the ventricular zone. May be able to induce the degradation of filamin-A

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.