PEDS1

Chr 20

plasmanylethanolamine desaturase 1

Also known as: CarF, KUA, TMEM189

NCBI Gene: 387521ENSG00000240849UniProt: A5PLL7

Co-transcription of this gene and the neighboring downstream gene (ubiquitin-conjugating enzyme E2 variant 1) generates a rare read-through transcript, which encodes a fusion protein comprised of sequence sharing identity with each individual gene product. The protein encoded by this individual gene lacks a UEV1 domain but includes three transmembrane regions. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2009]

ResearchGenerating clinical summary…
1
Active trials
7
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.67
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?
0.67LOEUF
pLI 0.008
Z-score 2.65
OE 0.36 (0.20–0.67)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
2.43Z-score
OE missense 0.53 (0.45–0.62)
112 obs / 211.4 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.36 (0.20–0.67)
0≤0.351.4
Missense OE?0.53 (0.45–0.62)
0≤0.61.4
Synonymous OE?1.17
0≤1.21.6
LoF obs/exp: 7 / 19.7Missense obs/exp: 112 / 211.4Syn Z: -1.18

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PEDS1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

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