DCTPP1

Chr 16

dCTP pyrophosphatase 1

Also known as: CDA03, RS21C6, XTP3TPA

NCBI Gene: 79077ENSG00000179958UniProt: Q9H773

The protein encoded by this gene is dCTP pyrophosphatase, which converts dCTP to dCMP and inorganic pyrophosphate. The encoded protein also displays weak activity against dTTP and dATP, but none against dGTP. This protein may be responsible for eliminating excess dCTP after DNA synthesis and may prevent overmethylation of CpG islands. Three transcript variants, one protein-coding and the other two non-protein coding, have been found for this gene. [provided by RefSeq, Dec 2015]

53
ClinVar variants
15
Pathogenic / LP
0.46
pLI score
0
Active trials
Clinical Summary— DCTPP1
⚡
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.18) despite low pLI — interpret in context.
📋
ClinVar Variants
15 Pathogenic / Likely Pathogenic· 35 VUS of 53 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.84LOEUF
pLI 0.461
Z-score 1.81
OE 0.18 (0.06–0.84)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
-0.20Z-score
OE missense 1.05 (0.90–1.23)
112 obs / 106.3 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.18 (0.06–0.84)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.1.05 (0.90–1.23)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.09
0≤1.21.6
LoF obs/exp: 1 / 5.7Missense obs/exp: 112 / 106.3Syn Z: -0.48

ClinVar Variant Classifications

53 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic13
Likely Pathogenic2
VUS35
Likely Benign3
13
Pathogenic
2
Likely Pathogenic
35
VUS
3
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
13
0
13
Likely Pathogenic
0
0
2
0
2
VUS
0
29
6
0
35
Likely Benign
0
2
0
1
3
Benign
0
0
0
0
0
Total03121153

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

DCTPP1 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Identification of Novel Target DCTPP1 for Colorectal Cancer Therapy with the Natural Small-Molecule Inhibitors Regulating Metabolic Reprogramming.
Feng L et al.·Angew Chem Int Ed Engl
2024
DCTPP1 prevents a mutator phenotype through the modulation of dCTP, dTTP and dUTP pools.
Martínez-Arribas B et al.·Cell Mol Life Sci
2020
Expression of human dCTP pyrophosphatase 1 (DCTPP1) and its association with cisplatin resistance characteristics in ovarian cancer.
Wang Y et al.·J Cell Mol Med
2024
Autophagy induced by overexpression of DCTPP1 promotes tumor progression and predicts poor clinical outcome in prostate cancer.
Lu J et al.·Int J Biol Macromol
2018
Mitochondrial-related genes as prognostic and metastatic markers in breast cancer: insights from comprehensive analysis and clinical models.
Fang Y et al.·Front Immunol
2024Functional
Comparative proteomics analysis of gastric cancer stem cells.
Morisaki T et al.·PLoS One
2014
Construction and Validation of a Prognostic Model Based on mRNAsi-Related Genes in Breast Cancer.
Zhao X et al.·Comput Math Methods Med
2022Functional
Identification of long non-coding RNAs and RNA binding proteins in breast cancer subtypes.
Cava C et al.·Sci Rep
2022
DCTPP1 attenuates the sensitivity of human gastric cancer cells to 5-fluorouracil by up-regulating MDR1 expression epigenetically.
Xia LL et al.·Oncotarget
2016
Small-Molecule Inhibitors Targeting the Canonical WNT Signaling Pathway for the Treatment of Cancer.
Liu Z et al.·J Med Chem
2021
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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