RASSF4

Chr 10

Ras association domain family member 4

Also known as: AD037

NCBI Gene: 83937ENSG00000107551UniProt: Q8WYP3

The function of this gene has not yet been determined but may involve a role in tumor suppression. Alternative splicing of this gene results in several transcript variants; however, most of the variants have not been fully described. [provided by RefSeq, Jul 2008]

Research Assistant →

Primary Disease Associations & Inheritance

UniProtMACS syndrome
0
Active trials
5
Pubs (1 yr)
13
P/LP submissions
0%
P/LP missense
1.55
LOEUF
—
Mechanism
Clinical Summary— RASSF4
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
13 unique Pathogenic / Likely Pathogenic· 58 VUS of 107 total submissions
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.55LOEUF
pLI 0.000
Z-score -0.23
OE 1.06 (0.74–1.55)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.14Z-score
OE missense 0.97 (0.86–1.09)
192 obs / 197.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE1.06 (0.74–1.55)
0≤0.351.4
Missense OE0.97 (0.86–1.09)
0≤0.61.4
Synonymous OE1.07
0≤1.21.6
LoF obs/exp: 19 / 17.9Missense obs/exp: 192 / 197.5Syn Z: -0.52

ClinVar Variant Classifications

107 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic11
Likely Pathogenic2
VUS58
Likely Benign7
Benign6
11
Pathogenic
2
Likely Pathogenic
58
VUS
7
Likely Benign
6
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
11
0
11
Likely Pathogenic
0
0
2
0
2
VUS
0
57
1
0
58
Likely Benign
0
6
0
1
7
Benign
0
5
1
0
6
Total06815184

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

View in ClinVar →

Protein Context — Lollipop Plot

RASSF4 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
Open Research Assistant →
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