SHQ1

Chr 3AR

SHQ1, H/ACA ribonucleoprotein assembly factor

Also known as: DYT35, GRIM-1, NEDDS, Shq1p

NCBI Gene: 55164ENSG00000144736UniProt: Q6PI26OMIM: 613663

SHQ1 assists in the assembly of H/ACA-box ribonucleoproteins that function in the processing of ribosomal RNAs, modification of spliceosomal small nuclear RNAs, and stabilization of telomerase (see MIM 602322) (Grozdanov et al., 2009 [PubMed 19383767]).[supplied by OMIM, Dec 2010]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Dystonia 35, childhood-onsetMIM #619921
AR
Neurodevelopmental disorder with dystonia and seizuresMIM #619922
AR
0
Active trials
5
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.13
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.13LOEUF
pLI 0.000
Z-score 1.04
OE 0.77 (0.54–1.13)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.43Z-score
OE missense 1.07 (0.98–1.17)
327 obs / 305.7 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.77 (0.54–1.13)
0≤0.351.4
Missense OE?1.07 (0.98–1.17)
0≤0.61.4
Synonymous OE?1.00
0≤1.21.6
LoF obs/exp: 19 / 24.6Missense obs/exp: 327 / 305.7Syn Z: -0.03

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SHQ1 · 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 →

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