RBM10

Chr XXLR

RNA binding motif protein 10

Also known as: DXS8237E, GPATC9, GPATCH9, MINAS-60, S1-1, TARPS, ZRANB5

NCBI Gene: 8241 ENSG00000182872 UniProt: P98175 OMIM: 300080

This protein binds to specific RNA sequences and regulates mRNA splicing, playing a critical role in post-transcriptional gene expression control. Mutations cause TARP syndrome, an X-linked recessive disorder affecting multiple organ systems. The gene is extremely intolerant to loss-of-function variants (pLI ~1.0, LOEUF 0.11), indicating that complete loss of protein function is typically incompatible with normal development.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a nuclear protein that belongs to a family proteins that contain an RNA-binding motif. The encoded protein associates with hnRNP proteins and may be involved in regulating alternative splicing. Defects in this gene are the cause of the X-linked recessive disorder, TARP syndrome. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2011]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

TARP syndromeMIM #311900

XLR

Clinical highlights

Gene-disease validity (ClinGen)

TARP syndrome · XLDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.11

LOEUF· LoF intol.

LOF

Mechanism· G2P