RBM10

Chr XXLR

RNA binding motif protein 10

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

NCBI Gene: 8241ENSG00000182872UniProt: P98175

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]

Primary Disease Associations & Inheritance

TARP syndromeMIM #311900
XLR
609
ClinVar variants
83
Pathogenic / LP
1.00
pLI score· haploinsufficient
0
Active trials
Clinical Summary— RBM10
⚡
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.
📋
ClinVar Variants
83 Pathogenic / Likely Pathogenic· 155 VUS of 609 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Dual constrained — LoF & missense intolerant
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
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?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
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?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.02 (0.01–0.11)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.40 (0.35–0.45)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.98
0≤1.21.6
LoF obs/exp: 1 / 43.1Missense obs/exp: 172 / 433.4Syn Z: 0.24

ClinVar Variant Classifications

609 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic64
Likely Pathogenic19
VUS155
Likely Benign115
Benign54
Conflicting9
64
Pathogenic
19
Likely Pathogenic
155
VUS
115
Likely Benign
54
Benign
9
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
10
0
54
0
64
Likely Pathogenic
9
4
6
0
19
VUS
1
124
26
4
155
Likely Benign
0
13
40
62
115
Benign
0
6
25
23
54
Conflicting
—9
Total2014715189416

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.

Gene2Phenotype Curations

RBM10-related TARP syndrome

strong
Monoallelic X HemizygousLoss Of FunctionAbsent Gene Product
Dev. Disorders
G2P ↗

Gene2Phenotype curations · DECIPHER consortium patient cohort (public variants) · deciphergenomics.org

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM

TARP syndrome

MIM #311900

Molecular basis of disorder known

X-linked recessive
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Molecular Profiling Provides Clinical Insights Into Targeted and Immunotherapies as Well as Colorectal Cancer Prognosis.
Guo L et al.·Gastroenterology
2023
Molecular impact of mutations in RNA splicing factors in cancer.
Zhang Q et al.·Mol Cell
2024Review
RBM10: Structure, functions, and associated diseases.
Inoue A·Gene
2021Review
RBM10: Harmful or helpful-many factors to consider.
Loiselle JJ et al.·J Cell Biochem
2018Review
RBM10 C761Y mutation induced oncogenic ASPM isoforms and regulated β-catenin signaling in cholangiocarcinoma.
Chang J et al.·J Exp Clin Cancer Res
2024
Molecular and Clinicopathologic Impact of GNAS Variants Across Solid Tumors.
Johannet P et al.·J Clin Oncol
2024
RBM10 suppresses colorectal cancer invasion by regulating LncRNA SNHG17 alternative splicing.
An L et al.·Sci Rep
2025
Genomic characteristics and immune landscape of super multiple primary lung cancer.
Yang Z et al.·EBioMedicine
2024
Targeting RBM10-Repressed RORB Activity in Liquid Condensates Inhibits Lysosomal Biogenesis and Neuroblastoma Progression via Affecting NF-κB Signaling.
Guo Y et al.·Adv Sci (Weinh)
2025
A TARP Syndrome Phenotype Is Associated with a Novel Splicing Variant in RBM10.
Owczarek-Lipska M et al.·Genes (Basel)
2022Case report
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools