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NUP98

Chr 11p15.4

nucleoporin 98 and 96 precursor

Aliases:
NUP96, Nup98-Nup96, Nup98-96, NUP196
MANE:
ENST00000324932.12

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Familial Hirschsprung Disease

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

  • influenza

    0.54
  • HIV infectious disease

    0.54
  • viral infectious disease

    0.53
  • acute myeloid leukemia

    0.40
  • lung carcinoma

    0.38
  • lymphoid neoplasm

    0.37
  • COVID-19

    0.37
  • endometrial endometrioid adenocarcinoma

    0.37
  • hepatobiliary neoplasm

    0.37
  • cutaneous melanoma

    0.37

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

Protein function (UniProt)

Nuclear pore complex protein Nup98-Nup96

Plays a role in the nuclear pore complex (NPC) assembly and/or maintenance. NUP98 and NUP96 are involved in the bidirectional transport across the NPC (PubMed:33097660). May anchor NUP153 and TPR to the NPC. In cooperation with DHX9, plays a role in transcription and alternative splicing activation of a subset of genes (PubMed:28221134). Involved in the localization of DHX9 in discrete intranuclear foci (GLFG-body) (PubMed:28221134)

Curated MONDO disease pages that list NUP98 among their top associated genes.

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.