HGH1

Chr 8

HGH1 cochaperone

Also known as: BRP16, BRP16L, C8orf30A, C8orf30B, FAM203A, FAM203B

NCBI Gene: 51236ENSG00000235173UniProt: Q9BTY7
0
Active trials
3
Pubs (1 yr)
0
P/LP submissions
—
P/LP missense
1.69
LOEUF
GOF
Mechanism· predicted
Clinical Summary— HGH1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.01) — loss-of-function variants are relatively tolerated in the population.
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
1.69LOEUF
pLI 0.012
Z-score 0.51
OE 0.73 (0.33–1.69)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-0.32Z-score
OE missense 1.17 (0.89–1.55)
34 obs / 29.1 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.73 (0.33–1.69)
0≤0.351.4
Missense OE1.17 (0.89–1.55)
0≤0.61.4
Synonymous OE0.94
0≤1.21.6
LoF obs/exp: 3 / 4.1Missense obs/exp: 34 / 29.1Syn Z: 0.17
DN
0.5672th %ile
GOF
0.75top 25%
LOF
0.2872th %ile

The highest-scoring mechanism for this gene is gain-of-function.

GOFprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

HGH1 · 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 4 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