PDGFRL

Chr 8

platelet derived growth factor receptor like

Also known as: PDGRL, PRLTS

This gene encodes a protein with significant sequence similarity to the ligand binding domain of platelet-derived growth factor receptor beta. Mutations in this gene, or deletion of a chromosomal segment containing this gene, are associated with sporadic hepatocellular carcinomas, colorectal cancers, and non-small cell lung cancers. This suggests this gene product may function as a tumor suppressor. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtColorectal cancer
0
Active trials
5
Pubs (1 yr)
P/LP submissions
P/LP missense
1.79
LOEUF
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.79LOEUF
pLI 0.000
Z-score -0.96
OE 1.27 (0.881.79)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-2.00Z-score
OE missense 1.38 (1.261.52)
303 obs / 219.6 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.27 (0.881.79)
00.351.4
Missense OE?1.38 (1.261.52)
00.61.4
Synonymous OE?1.35
01.21.6
LoF obs/exp: 19 / 15.0Missense obs/exp: 303 / 219.6Syn Z: -2.62

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

PDGFRL · 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

No active trials found for this gene.

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