GIGYF1

Chr 7

GRB10 interacting GYF protein 1

Also known as: GYF1, PERQ1

NCBI Gene: 64599ENSG00000146830UniProt: O75420

This gene encodes a member of the gyf family of adaptor proteins. The encoded protein contains a gyf protein interaction domain. It binds growth factor receptor bound 10, another adaptor protein that binds activated insulin-like growth factor 1 and insulin receptors and regulates receptor signaling. [provided by RefSeq, Apr 2017]

1
Active trials
49
Pathogenic / LP
295
ClinVar variants
4
Pubs (1 yr)
-0.1
Missense Z
0.48
LOEUF
Clinical Summary— GIGYF1
⚡
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.34) despite low pLI — interpret in context.
📋
ClinVar Variants
49 Pathogenic / Likely Pathogenic· 199 VUS of 295 total submissions
💊
Clinical Trials
1 active or recruiting trial — potential therapeutic options may be available

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint
0.48LOEUF
pLI 0.000
Z-score 4.93
OE 0.34 (0.24–0.48)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
-0.15Z-score
OE missense 1.02 (0.95–1.08)
656 obs / 645.3 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.34 (0.24–0.48)
0≤0.351.4
Missense OE1.02 (0.95–1.08)
0≤0.61.4
Synonymous OE1.26
0≤1.21.6
LoF obs/exp: 22 / 64.9Missense obs/exp: 656 / 645.3Syn Z: -3.44

ClinVar Variant Classifications

295 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic41
Likely Pathogenic8
VUS199
Likely Benign32
Benign14
Conflicting1
41
Pathogenic
8
Likely Pathogenic
199
VUS
32
Likely Benign
14
Benign
1
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
10
0
31
0
41
Likely Pathogenic
3
0
5
0
8
VUS
8
156
35
0
199
Likely Benign
0
5
12
15
32
Benign
0
4
3
7
14
Conflicting
—1
Total211658622295

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

GIGYF1 · protein map & ClinVar variants

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

Gene2Phenotype Curations

GIGYF1-related developmental disorder

limited
ADLoss Of FunctionAbsent Gene Product, Altered Gene Product Structure
Dev. Disorders
G2P ↗
splice region variantframeshift variantstop gainedmissense variant

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

Clinical Literature
Landmark / reviewRecent case evidence
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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