HHLA1

Chr 8

HHLA1 neighbor of OC90

The HHLA1 protein is predicted to be located in the extracellular region, but its specific function remains unclear. Clinical associations with human disease have not been established for mutations in this gene. The gene shows tolerance to loss-of-function variation (pLI near zero, LOEUF 1.222), suggesting it may not be essential for normal development.

OMIMResearchSummary from RefSeq
LOEUF 1.22
Clinical SummaryHHLA1
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
Some data sources returned errors (1)

ncbi: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
1.22LOEUF
pLI 0.000
Z-score 0.66
OE 0.86 (0.621.22)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.71Z-score
OE missense 0.88 (0.790.98)
247 obs / 280.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.86 (0.621.22)
00.351.4
Missense OE0.88 (0.790.98)
00.61.4
Synonymous OE0.91
01.21.6
LoF obs/exp: 23 / 26.7Missense obs/exp: 247 / 280.2Syn Z: 0.69

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

HHLA1 · 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

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found