RBM10

Chr XXLR

RNA binding motif protein 10

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

NCBI Gene: 8241ENSG00000182872UniProt: P98175OMIM: 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.

OMIMResearchSummary from RefSeq, OMIM, UniProt
LOFmechanismXLRLOEUF 0.111 OMIM phenotype
Clinical Summary— RBM10
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Gene-Disease Validity (ClinGen)
TARP syndrome · XLDefinitive

Definitive — sufficient evidence for diagnostic panels

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Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.
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ClinVar Variants
75 unique Pathogenic / Likely Pathogenic· 117 VUS of 400 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Dual constrained — LoF & missense intolerant
LoF Constraint
0.11LOEUF
pLI 1.000
Z-score 5.94
OE 0.02 (0.01–0.11)
Highly constrained

Among the most LoF-intolerant genes (~top 3%)

Missense Constraint
4.46Z-score
OE missense 0.40 (0.35–0.45)
172 obs / 433.4 exp
Constrained

Highly missense-constrained (top ~0.1%)

Observed / Expected Ratios
LoF OE0.02 (0.01–0.11)
0≤0.351.4
Missense OE0.40 (0.35–0.45)
0≤0.61.4
Synonymous OE0.98
0≤1.21.6
LoF obs/exp: 1 / 43.1Missense obs/exp: 172 / 433.4Syn Z: 0.24
Curated Mechanism (G2P)Gene2Phenotype (DDG2P) ↗
strongRBM10-related TARP syndromeLOFXLR
DN
0.2499th %ile
GOF
0.2995th %ile
LOF
0.83top 5%

The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).

LOFprediction above median · 31% of P/LP variants are LoF · LOEUF 0.11

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.

ClinVar Variant Classifications

400 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic58
Likely Pathogenic17
VUS117
Likely Benign99
Benign48
Conflicting7
58
Pathogenic
17
Likely Pathogenic
117
VUS
99
Likely Benign
48
Benign
7
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
11
0
47
0
58
Likely Pathogenic
12
3
2
0
17
VUS
1
98
14
4
117
Likely Benign
0
12
35
52
99
Benign
0
7
22
19
48
Conflicting
—7
Total2412012075346

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

RBM10 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients