DIPK1C

Chr 18

divergent protein kinase domain 1C

Also known as: C18orf51, FAM69C, FNCAD

NCBI Gene: 125704ENSG00000187773UniProt: Q0P6D2OMIM: 614544

This gene encodes a member of the FAM69 family of cysteine-rich type II transmembrane proteins. These proteins localize to the endoplasmic reticulum but their specific functions are unknown. [provided by RefSeq, Nov 2011]

OMIMResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.82
LOEUF
—
Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.82LOEUF
pLI 0.000
Z-score -0.39
OE 1.15 (0.69–1.82)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.04Z-score
OE missense 1.01 (0.90–1.14)
195 obs / 193.3 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.15 (0.69–1.82)
0≤0.351.4
Missense OE?1.01 (0.90–1.14)
0≤0.61.4
Synonymous OE?0.93
0≤1.21.6
LoF obs/exp: 9 / 7.8Missense obs/exp: 195 / 193.3Syn Z: 0.48

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

DIPK1C · 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