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THSD1

Chr 13q14.3

thrombospondin type 1 domain containing 1

Aliases:
TMTSP
MANE:
ENST00000258613.5

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • Cerebral vascular malformations

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

  • aneurysm, intracranial berry, 12

    0.70
  • lymphatic malformation 13

    0.58
  • Non-immune hydrops fetalis

    0.45
  • neurodegenerative disease

    0.38
  • Familial cerebral saccular aneurysm

    0.37
  • Alzheimer disease

    0.24
  • subarachnoid hemorrhage

    0.19
  • aortic aneurysm

    0.12
  • vascular dementia

    0.11
  • Blackfan-Diamond anemia

    0.04

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

Protein function (UniProt)

Thrombospondin type-1 domain-containing protein 1

Is a positive regulator of nascent focal adhesion assembly, involved in the modulation of endothelial cell attachment to the extracellular matrix

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.