PUS7

Chr 7AR

pseudouridine synthase 7

Also known as: IDDABS

NCBI Gene: 54517 ENSG00000091127 UniProt: Q96PZ0 OMIM: 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.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

Enables enzyme binding activity and tRNA pseudouridine(13) synthase activity. Involved in several processes, including pseudouridine synthesis; regulation of hematopoietic stem cell differentiation; and regulation of mesoderm development. Is active in nucleus. Implicated in intellectual developmental disorder with abnormal behavior, microcephaly, and short stature. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

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

36 unique Pathogenic / Likely Pathogenic· 94 VUS of 192 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 OE?0.57 (0.40–0.83)

0≤0.351.4

Missense OE?0.79 (0.71–0.87)

0≤0.61.4

Synonymous OE?1.05

0≤1.21.6

LoF obs/exp: 20 / 35.2Missense obs/exp: 281 / 356.9Syn Z: -0.45

ClinVar Variant Classifications

192 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic19

Likely Pathogenic17

VUS94

Likely Benign16

Benign11

Conflicting2

Pathogenic

Likely Pathogenic

VUS

Likely Benign

Benign

Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	17	0	2	0	19
Likely Pathogenic	12	5	0	0	17
VUS	2	90	1	1	94
Likely Benign	0	4	3	9	16
Benign	0	1	7	3	11
Conflicting	—				2
Total	31	100	13	13	159

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

View in ClinVar →

24 pathogenic / likely-pathogenic (of 33) ClinVar copy-number / structural variants overlap PUS7 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →