DNPH1

Chr 6

2'-deoxynucleoside 5'-phosphate N-hydrolase 1

Also known as: C6orf108, RCL, dJ330M21.3

This gene was identified on the basis of its stimulation by c-Myc protein. The latter is a transcription factor that participates in the regulation of cell proliferation, differentiation, and apoptosis. The exact function of this gene is not known but studies in rat suggest a role in cellular proliferation and c-Myc-mediated transformation. Two alternative transcripts encoding different proteins have been described. [provided by RefSeq, Jul 2008]

OMIMResearchGenerating clinical summary…
0
Active trials
12
Pubs (1 yr)
P/LP submissions
P/LP missense
1.26
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.26LOEUF
pLI 0.032
Z-score 1.16
OE 0.49 (0.221.26)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.64Z-score
OE missense 0.82 (0.680.99)
78 obs / 95.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.49 (0.221.26)
00.351.4
Missense OE?0.82 (0.680.99)
00.61.4
Synonymous OE?1.02
01.21.6
LoF obs/exp: 3 / 6.1Missense obs/exp: 78 / 95.5Syn Z: -0.11

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

DNPH1 · 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 →