SRCAP

Chr 16

Snf2 related CREBBP activator protein

Also known as: DEHMBA, DOMO1, FLHS, SWR1

NCBI Gene: 10847ENSG00000080603UniProt: Q6ZRS2

This gene encodes the core catalytic component of the multiprotein chromatin-remodeling SRCAP complex. The encoded protein is an ATPase that is necessary for the incorporation of the histone variant H2A.Z into nucleosomes. It can function as a transcriptional activator in Notch-mediated, CREB-mediated and steroid receptor-mediated transcription. Mutations in this gene cause Floating-Harbor syndrome, a rare disorder characterized by short stature, language deficits and dysmorphic facial features. [provided by RefSeq, Feb 2012]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtFloating-Harbor syndrome
UniProtDevelopmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities

Clinical highlights

Gene-disease validity (ClinGen)
Floating-Harbor syndrome · ADDefinitivesufficient 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.
1
Active trials
39
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.10
LOEUF· LoF intol.
Multiple*
Mechanism· G2P
📖
GeneReview available — SRCAP
Authoritative clinical overview · Recommended first read
Open GeneReview ↗
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?
0.10LOEUF
pLI 1.000
Z-score 9.81
OE 0.05 (0.03–0.10)
Highly constrained

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

Missense Constraint?
2.13Z-score
OE missense 0.86 (0.83–0.90)
1634 obs / 1894.5 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.05 (0.03–0.10)
0≤0.351.4
Missense OE?0.86 (0.83–0.90)
0≤0.61.4
Synonymous OE?1.15
0≤1.21.6
LoF obs/exp: 6 / 123.8Missense obs/exp: 1634 / 1894.5Syn Z: -3.11

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SRCAP · protein map & ClinVar variants

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

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