WAC

Chr 10

WW domain containing adaptor with coiled-coil

Also known as: BM-016, DESSH, PRO1741, Wwp4

NCBI Gene: 51322ENSG00000095787UniProt: Q9BTA9

The protein encoded by this gene contains a WW domain, which is a protein module found in a wide range of signaling proteins. This domain mediates protein-protein interactions and binds proteins containing short linear peptide motifs that are proline-rich or contain at least one proline. This gene product shares 94% sequence identity with the WAC protein in mouse, however, its exact function is not known. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtDeSanto-Shinawi syndrome

Clinical highlights

Gene-disease validity (ClinGen)
DeSanto-Shinawi 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.
2
Active trials
135
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.08
LOEUF· LoF intol.
LOF
Mechanism· G2P
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GeneReview available — WAC
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?
0.08LOEUF
pLI 1.000
Z-score 5.53
OE 0.00 (0.00–0.08)
Highly constrained

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

Missense Constraint?
1.51Z-score
OE missense 0.77 (0.69–0.85)
262 obs / 340.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.00 (0.00–0.08)
0≤0.351.4
Missense OE?0.77 (0.69–0.85)
0≤0.61.4
Synonymous OE?1.05
0≤1.21.6
LoF obs/exp: 0 / 35.6Missense obs/exp: 262 / 340.5Syn Z: -0.42

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

WAC · 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