DLEC1

Chr 3

DLEC1 cilia and flagella associated protein

Also known as: CFAP81, DLC-1, DLC1, F56, FAP81

NCBI Gene: 9940ENSG00000008226UniProt: Q9Y238OMIM: 604050

The protein encoded by DLEC1 is essential for spermatogenesis and may function as a tumor suppressor by inhibiting cell proliferation. The gene is not highly constrained against loss-of-function variants and clinical phenotypes associated with germline mutations in pediatric patients are not well-established in current databases. DLEC1 is primarily known for its down-regulation in various adult malignancies rather than monogenic pediatric neurological disorders.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 0.91
Clinical Summary— DLEC1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
11 unique Pathogenic / Likely Pathogenic· 299 VUS of 375 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
0.91LOEUF
pLI 0.000
Z-score 2.26
OE 0.74 (0.61–0.91)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
-0.50Z-score
OE missense 1.04 (0.99–1.10)
1044 obs / 999.6 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.74 (0.61–0.91)
0≤0.351.4
Missense OE1.04 (0.99–1.10)
0≤0.61.4
Synonymous OE1.04
0≤1.21.6
LoF obs/exp: 67 / 90.1Missense obs/exp: 1044 / 999.6Syn Z: -0.66

ClinVar Variant Classifications

375 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic10
Likely Pathogenic1
VUS299
Likely Benign37
Benign12
Conflicting3
10
Pathogenic
1
Likely Pathogenic
299
VUS
37
Likely Benign
12
Benign
3
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
10
0
10
Likely Pathogenic
0
0
1
0
1
VUS
0
289
10
0
299
Likely Benign
0
29
2
6
37
Benign
0
5
1
6
12
Conflicting
—3
Total03232412362

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

View in ClinVar →

Protein Context — Lollipop Plot

DLEC1 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

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
Epigenetic silencing of DLEC1 correlates with tumor immune microenvironment and predicts immunotherapy prognosis in multiple cancers.
Ming R et al.·Hum Genet
2026
Identifying pleiotropic variants and candidate genes for fertility and reproduction traits in Holstein cattle via association studies based on imputed whole-genome sequence genotypes
Chen SY et al.·BMC Genomics
2022
Exploring the Synergistic Mechanism of AP2A2 Transcription Factor Inhibition via Molecular Modeling and Simulations as a Novel Computational Approach for Combating Breast Cancer: In Silico Interpretations.
Niranjan V et al.·Mol Biotechnol
2023Functional
The Poly(rC) binding protein 2 is required for spermatogenesis by regulating alternative splicing and mRNA stability.
Xiong Q et al.·Int J Biol Macromol
2026
Methylation status of selected genes in non-small cell lung carcinoma - current knowledge and future perspectives.
Put A et al.·Neoplasma
2024
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Expression level and methylation status of three tumor suppressor genes, DLEC1, ITGA9 and MLH1, in non-small cell lung cancer.
Pastuszak-Lewandoska D et al.·Med Oncol
2016
Small suitability of the DLEC1, MLH1 and TUSC4 mRNA expression analysis as potential prognostic or differentiating markers for NSCLC patients in the Polish population.
Kordiak J et al.·J Genet
2017Cohort
DLEC1 methylation is associated with a better clinical outcome in patients with intrahepatic cholangiocarcinoma of the small duct subtype.
Kim Y et al.·Virchows Arch
2019Cohort
Aberrant epithelial differentiation may contribute to endometrial polyp formation: insights from single-cell analysis.
Pathare ADS et al.·Syst Biol Reprod Med
2026
DNA methylation patterns suggest the involvement of DNMT3B and TET1 in osteosarcoma development.
Pires SF et al.·Mol Genet Genomics
2023
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