ITPRIPL1

Chr 2

ITPRIP like 1

Also known as: D1B, KIAA1754L

NCBI Gene: 150771ENSG00000198885UniProt: Q6GPH6

Enables receptor ligand activity. Involved in negative regulation of T cell receptor signaling pathway. Located in membrane. Is active in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
7
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.37
LOEUF
—
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.37LOEUF
pLI 0.000
Z-score 0.39
OE 0.90 (0.61–1.37)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.53Z-score
OE missense 0.92 (0.83–1.01)
298 obs / 324.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.90 (0.61–1.37)
0≤0.351.4
Missense OE?0.92 (0.83–1.01)
0≤0.61.4
Synonymous OE?0.81
0≤1.21.6
LoF obs/exp: 16 / 17.8Missense obs/exp: 298 / 324.7Syn Z: 1.73

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ITPRIPL1 · 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