ITGBL1

Chr 13

integrin subunit beta like 1

Also known as: OSCP, TIED

NCBI Gene: 9358ENSG00000198542UniProt: O95965

This gene encodes a beta integrin-related protein that is a member of the EGF-like protein family. The encoded protein contains integrin-like cysteine-rich repeats. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]

ResearchGenerating clinical summary…
0
Active trials
19
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.97
LOEUF
Multiple*
Mechanism· predicted
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?
0.97LOEUF
pLI 0.000
Z-score 1.67
OE 0.66 (0.45–0.97)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.58Z-score
OE missense 0.90 (0.81–1.00)
247 obs / 274.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.66 (0.45–0.97)
0≤0.351.4
Missense OE?0.90 (0.81–1.00)
0≤0.61.4
Synonymous OE?0.87
0≤1.21.6
LoF obs/exp: 18 / 27.5Missense obs/exp: 247 / 274.1Syn Z: 1.00

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ITGBL1 · 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