TCERG1L

Chr 10

transcription elongation regulator 1 like

NCBI Gene: 256536ENSG00000176769UniProt: Q5VWI1OMIM: 620498

This gene encodes a protein predicted to bind RNA polymerase and function as a transcription coregulator in the nucleus. The gene shows minimal constraint against loss-of-function variants, and no definitive disease associations have been established in humans. Currently, there is insufficient evidence to determine specific disease phenotypes or inheritance patterns associated with TCERG1L mutations.

OMIMResearchSummary from RefSeq
LOEUF 1.06
Clinical Summary— TCERG1L
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
76 unique Pathogenic / Likely Pathogenic· 35 VUS of 120 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
1.06LOEUF
pLI 0.000
Z-score 1.33
OE 0.70 (0.47–1.06)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.47Z-score
OE missense 0.92 (0.83–1.02)
241 obs / 262.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.70 (0.47–1.06)
0≤0.351.4
Missense OE0.92 (0.83–1.02)
0≤0.61.4
Synonymous OE0.91
0≤1.21.6
LoF obs/exp: 16 / 22.8Missense obs/exp: 241 / 262.2Syn Z: 0.71

ClinVar Variant Classifications

120 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic72
Likely Pathogenic4
VUS35
Likely Benign8
Benign1
72
Pathogenic
4
Likely Pathogenic
35
VUS
8
Likely Benign
1
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
72
0
72
Likely Pathogenic
0
0
4
0
4
VUS
0
27
8
0
35
Likely Benign
0
3
3
2
8
Benign
0
0
1
0
1
Total030882120

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

View in ClinVar →

Protein Context — Lollipop Plot

TCERG1L · 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 →

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