RBM7

Chr 11

RNA binding motif protein 7

NCBI Gene: 10179 ENSG00000076053 UniProt: Q9Y580

Enables 14-3-3 protein binding activity; pre-mRNA intronic binding activity; and snRNA binding activity. Involved in snRNA catabolic process. Located in nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]

Research

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.52

LOEUF

—

Mechanism

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Moderate LoF intolerance

LoF Constraint?

0.52LOEUF

pLI 0.648

Z-score 2.68

OE 0.17 (0.07–0.52)

Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?

0.83Z-score

OE missense 0.81 (0.69–0.94)

118 obs / 146.1 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.17 (0.07–0.52)

0≤0.351.4

Missense OE?0.81 (0.69–0.94)

0≤0.61.4

Synonymous OE?1.07

0≤1.21.6

LoF obs/exp: 2 / 12.0Missense obs/exp: 118 / 146.1Syn Z: -0.38

Background carrier burden — how many people carry a rare variant somewhere in RBM7?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 220

323 rare PASS variants

Rare truncating (LoF)

1 in 5,400

39 rare PASS variants

Rare synonymous (reference)

1 in 190

145 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for RBM7. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 250	1 in 4,600
South Asian	~43k	1 in 190	≈ 1 in 16,000
Remaining (unassigned)	~30k	1 in 160	≈ 1 in 15,000
European (Finnish)	~27k	1 in 650	1 in 5,300
Admixed American	~22k	1 in 210	1 in 3,100
African / African American	~21k	1 in 130	≈ 1 in 7,900
East Asian	~20k	1 in 260	1 in 580
Ashkenazi Jewish	~13k	none seen	1 in 1,700
Middle Eastern	~2,884	1 in 110	none seen

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.