RBBP7

Chr X

RB binding protein 7, chromatin remodeling factor

Also known as: RbAp46, SPGFX9

NCBI Gene: 5931 ENSG00000102054 UniProt: Q16576

The RBBP7 protein is a core histone-binding subunit that functions in multiple chromatin remodeling complexes, including histone acetyltransferase, histone deacetylase, and nucleosome remodeling complexes that regulate gene expression and chromatin assembly. Mutations cause neurodevelopmental disorders with intellectual disability and developmental delay, inherited in an autosomal dominant pattern. The gene is highly constrained against loss-of-function variants, indicating that even single functional copies are critical for normal development.

ResearchSummary from RefSeq, UniProt

This protein is a ubiquitously expressed nuclear protein and belongs to a highly conserved subfamily of WD-repeat proteins. It is found among several proteins that binds directly to retinoblastoma protein, which regulates cell proliferation. The encoded protein is found in many histone deacetylase complexes, including mSin3 co-repressor complex. It is also present in protein complexes involved in chromatin assembly. This protein can interact with BRCA1 tumor-suppressor gene and may have a role in the regulation of cell proliferation and differentiation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]

ResearchGenerating clinical summary…

LOFmechanismLOEUF 0.28

Clinical Summary— RBBP7

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Population Constraint (gnomAD)

Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 0.98). One damaged copy is likely sufficient to cause disease.

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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

LoF intolerant — likely haploinsufficient

LoF Constraint?

0.28LOEUF

pLI 0.984

Z-score 3.59

OE 0.06 (0.02–0.28)

Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?

2.79Z-score

OE missense 0.41 (0.34–0.50)

72 obs / 176.2 exp

Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?

LoF OE?0.06 (0.02–0.28)

0≤0.351.4

Missense OE?0.41 (0.34–0.50)

0≤0.61.4

Synonymous OE?1.13

0≤1.21.6

LoF obs/exp: 1 / 17.0Missense obs/exp: 72 / 176.2Syn Z: -0.80

This gene — mechanism propensity

0.2499th %ile

GOF

0.2397th %ile

LOF

0.82top 5%

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

LOFprediction above median · LOEUF 0.28

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