UIMC1

Chr 5

ubiquitin interaction motif containing 1

Also known as: RAP80, X2HRIP110

NCBI Gene: 51720ENSG00000087206UniProt: Q96RL1

This gene encodes a nuclear protein that interacts with Brca1 (breast cancer 1) in a complex to recognize and repair DNA lesions. This protein binds ubiquitinated lysine 63 of histone H2A and H2AX. This protein may also function as a repressor of transcription. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

Research Assistant →
0
Active trials
3
Pubs (1 yr)
58
P/LP submissions
0%
P/LP missense
0.65
LOEUF
—
Mechanism
Clinical Summary— UIMC1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
56 unique Pathogenic / Likely Pathogenic· 86 VUS of 177 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
0.65LOEUF
pLI 0.000
Z-score 3.27
OE 0.44 (0.30–0.65)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
0.71Z-score
OE missense 0.90 (0.82–0.98)
340 obs / 379.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.44 (0.30–0.65)
0≤0.351.4
Missense OE0.90 (0.82–0.98)
0≤0.61.4
Synonymous OE1.03
0≤1.21.6
LoF obs/exp: 17 / 39.1Missense obs/exp: 340 / 379.2Syn Z: -0.24

ClinVar Variant Classifications

177 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic53
Likely Pathogenic3
VUS86
Likely Benign7
Benign4
53
Pathogenic
3
Likely Pathogenic
86
VUS
7
Likely Benign
4
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
53
0
53
Likely Pathogenic
1
0
2
0
3
VUS
1
81
4
0
86
Likely Benign
0
6
1
0
7
Benign
0
1
0
3
4
Total288603153

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

View in ClinVar →

Protein Context — Lollipop Plot

UIMC1 · 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.

Search ClinicalTrials.gov →
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 2 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