PNPLA7

Chr 9

patatin like domain 7, lysophospholipase

Also known as: C9orf111, NTE-R1, NTEL1

Human patatin-like phospholipases, such as PNPLA7, have been implicated in regulation of adipocyte differentiation and have been induced by metabolic stimuli (Wilson et al., 2006 [PubMed 16799181]).[supplied by OMIM, Jun 2008]

ResearchGenerating clinical summary…
0
Active trials
6
Pubs (1 yr)
P/LP submissions
P/LP missense
1.08
LOEUF
DN
Mechanism· predicted
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?
1.08LOEUF
pLI 0.000
Z-score 1.00
OE 0.87 (0.711.08)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.69Z-score
OE missense 0.93 (0.880.99)
801 obs / 857.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.87 (0.711.08)
00.351.4
Missense OE?0.93 (0.880.99)
00.61.4
Synonymous OE?1.04
01.21.6
LoF obs/exp: 61 / 70.0Missense obs/exp: 801 / 857.9Syn Z: -0.54

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

PNPLA7 · 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.

Search ClinicalTrials.gov →