NUDCD1

Chr 8

NudC domain containing 1

Also known as: CML66, OVA66

NCBI Gene: 84955ENSG00000120526UniProt: Q96RS6

Predicted to be involved in immune system process. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]

Research Assistant →
0
Active trials
3
Pubs (1 yr)
37
P/LP submissions
0%
P/LP missense
1.01
LOEUF
—
Mechanism
Clinical Summary— NUDCD1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
37 unique Pathogenic / Likely Pathogenic· 81 VUS of 143 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.01LOEUF
pLI 0.000
Z-score 1.53
OE 0.70 (0.49–1.01)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.50Z-score
OE missense 0.92 (0.83–1.01)
279 obs / 303.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.70 (0.49–1.01)
0≤0.351.4
Missense OE0.92 (0.83–1.01)
0≤0.61.4
Synonymous OE0.95
0≤1.21.6
LoF obs/exp: 21 / 30.1Missense obs/exp: 279 / 303.6Syn Z: 0.39

ClinVar Variant Classifications

143 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic37
VUS81
Likely Benign5
37
Pathogenic
81
VUS
5
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
37
0
37
Likely Pathogenic
0
0
0
0
0
VUS
0
76
5
0
81
Likely Benign
0
3
2
0
5
Benign
0
0
0
0
0
Total079440123

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

View in ClinVar →

Protein Context — Lollipop Plot

NUDCD1 · 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 →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Ferroptosis-related genes with post-transcriptional regulation mechanisms in hepatocellular carcinoma determined by bioinformatics and experimental validation
Zhu R et al.·Ann Transl Med
2022Functional
miR-144 inhibits the IGF1R-ERK1/2 signaling pathway via NUDCD1 to suppress the proliferation and metastasis of colorectal cancer cells: a study based on bioinformatics and in vitro and in vivo verification.
Han B et al.·J Cancer Res Clin Oncol
2022
NUDCD1 knockdown inhibits the proliferation, migration, and invasion of pancreatic cancer via the EMT process
Shi C et al.·Aging (Albany NY)
2021
Using single-cell and transcriptome data to identify prognostic genes associated with SUMO-ylation and their molecular regulatory mechanisms in breast cancer
Yang Y et al.·BMC Cancer
2025Functional
Integrative analysis of the proteome and transcriptome in gastric cancer identified LRP1B as a potential biomarker.
Miao J et al.·Biomark Med
2022
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Novel NUDCD1 gene variant predisposes to severe COVID-19 disease in Asians through modulation of antiviral DHX15- and MAVS-mediated signalling.
Anusha Amali A et al.·Front Immunol
2025
Expression and Clinical Significance of NUDCD1, PI3K/AKT/mTOR Signaling Pathway-Related Molecules and Immune Infiltration in Breast Cancer.
Wen W et al.·Clin Breast Cancer
2024
Identifying the role of NUDCD1 in human tumors from clinical and molecular mechanisms: a study based on comprehensive bioinformatics and experimental validation.
Han B et al.·Aging (Albany NY)
2023Functional
Protein interaction network of alternatively spliced NudCD1 isoforms.
Asselin-Mullen P et al.·Sci Rep
2017
NudCD1 Promotes the Proliferation and Metastasis of Non-Small Cell Lung Cancer Cells through the Activation of IGF1R-ERK1/2.
He B et al.·Pathobiology
2020
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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