ING1

Chr 13

inhibitor of growth family member 1

Also known as: p24ING1c, p33, p33ING1, p33ING1b, p47, p47ING1a

The ING1 protein is a nuclear tumor suppressor that cooperates with p53 in regulating cell growth by modulating p53-dependent transcriptional activation. Mutations cause squamous cell carcinoma of the head and neck, which occurs somatically rather than being inherited. The gene is not highly constrained against loss-of-function variants, consistent with its role in somatic rather than germline disease.

OMIMResearchSummary from RefSeq, OMIM, UniProt
LOEUF 0.761 OMIM phenotype
Clinical SummaryING1
Population Constraint (gnomAD)
Low constraint (pLI 0.01) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
74 unique Pathogenic / Likely Pathogenic· 22 VUS of 100 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
0.76LOEUF
pLI 0.010
Z-score 2.26
OE 0.38 (0.210.76)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
0.49Z-score
OE missense 0.92 (0.831.02)
255 obs / 278.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.38 (0.210.76)
00.351.4
Missense OE0.92 (0.831.02)
00.61.4
Synonymous OE1.01
01.21.6
LoF obs/exp: 6 / 15.7Missense obs/exp: 255 / 278.1Syn Z: -0.13

ClinVar Variant Classifications

100 submitted variants in ClinVar

Classification Summary

Pathogenic73
Likely Pathogenic1
VUS22
Likely Benign1
Benign2
73
Pathogenic
1
Likely Pathogenic
22
VUS
1
Likely Benign
2
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
73
0
73
Likely Pathogenic
0
0
1
0
1
VUS
0
14
8
0
22
Likely Benign
0
1
0
0
1
Benign
1
0
0
1
2
Total11582199

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

View in ClinVar →

Protein Context — Lollipop Plot

ING1 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗