PUS7

Chr 7AR

pseudouridine synthase 7

Also known as: IDDABS

NCBI Gene: 54517ENSG00000091127UniProt: Q96PZ0OMIM: 616261

This pseudouridylate synthase catalyzes pseudouridylation of tRNAs, mRNAs, and other RNA types, regulating protein synthesis, pre-mRNA splicing, and embryonic stem cell function. Biallelic mutations cause autosomal recessive intellectual developmental disorder with abnormal behavior, microcephaly, and short stature. The gene shows low constraint against loss-of-function variants (pLI near zero), consistent with its recessive inheritance pattern.

OMIMResearchSummary from RefSeq, OMIM, UniProt
LOFmechanismARLOEUF 0.831 OMIM phenotype
Clinical Summary— PUS7
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
59 unique Pathogenic / Likely Pathogenic· 102 VUS of 223 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
0.83LOEUF
pLI 0.000
Z-score 2.37
OE 0.57 (0.40–0.83)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
1.43Z-score
OE missense 0.79 (0.71–0.87)
281 obs / 356.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.57 (0.40–0.83)
0≤0.351.4
Missense OE0.79 (0.71–0.87)
0≤0.61.4
Synonymous OE1.05
0≤1.21.6
LoF obs/exp: 20 / 35.2Missense obs/exp: 281 / 356.9Syn Z: -0.45

ClinVar Variant Classifications

223 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic39
Likely Pathogenic20
VUS102
Likely Benign16
Benign11
Conflicting2
39
Pathogenic
20
Likely Pathogenic
102
VUS
16
Likely Benign
11
Benign
2
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
16
0
23
0
39
Likely Pathogenic
12
5
3
0
20
VUS
2
90
10
0
102
Likely Benign
0
4
3
9
16
Benign
0
1
7
3
11
Conflicting
—2
Total301004612190

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

View in ClinVar →

Protein Context — Lollipop Plot

PUS7 · 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

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 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