TCEANC

Chr X

transcription elongation factor A N-terminal and central domain containing

Also known as: TCEANC1

NCBI Gene: 170082ENSG00000176896UniProt: Q8N8B7OMIM: 301084

This gene encodes a protein predicted to regulate transcription by RNA polymerase II in the nucleus. The gene shows tolerance to loss-of-function variants (pLI = 0.05, LOEUF = 1.07), and no established disease associations have been reported to date.

OMIMResearchSummary from RefSeq
DNmechanismLOEUF 1.07
Clinical Summary— TCEANC
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.05) — loss-of-function variants are relatively tolerated in the population.
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
1.07LOEUF
pLI 0.052
Z-score 1.46
OE 0.41 (0.19–1.07)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.28Z-score
OE missense 0.93 (0.79–1.09)
108 obs / 116.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.41 (0.19–1.07)
0≤0.351.4
Missense OE0.93 (0.79–1.09)
0≤0.61.4
Synonymous OE0.90
0≤1.21.6
LoF obs/exp: 3 / 7.2Missense obs/exp: 108 / 116.5Syn Z: 0.50
DN
0.6648th %ile
GOF
0.5465th %ile
LOF
0.3164th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TCEANC · 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.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Dual Effect of Bleomycin on Histopathological Features of Lungs and Mediastinal Fat-Associated Lymphoid Clusters in an Autoimmune Disease Mouse Model
Elewa YHA et al.·Front Immunol
2021Functional
Cross-species examination of X-chromosome inactivation highlights domains of escape from silencing
Balaton BP et al.·Epigenetics Chromatin
2021
Methylation status of genes escaping from X-chromosome inactivation in patients with X-chromosome rearrangements
Kawashima S et al.·Clin Epigenetics
2021Cohort
The Histone H3 K4me3, K27me3, and K27ac Genome-Wide Distributions Are Differently Influenced by Sex in Brain Cortexes and Gastrocnemius of the Alzheimer's Disease PSAPP Mouse Model
Casciaro F et al.·Epigenomes
2021Functional
Autophagy Impairment in Retinal Ganglion Cells Following Hypoglycemia in Mice
Fresia D et al.·Cells
2025
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 4 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

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