TCERG1L

Chr 10

transcription elongation regulator 1 like

NCBI Gene: 256536 ENSG00000176769 UniProt: Q5VWI1 OMIM: 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.

OMIM ResearchSummary from RefSeq

Predicted to enable RNA polymerase binding activity and transcription coregulator activity. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.06

LOEUF

—

Mechanism

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 OE?0.70 (0.47–1.06)

0≤0.351.4

Missense OE?0.92 (0.83–1.02)

0≤0.61.4

Synonymous OE?0.91

0≤1.21.6

LoF obs/exp: 16 / 22.8Missense obs/exp: 241 / 262.2Syn Z: 0.71

Background carrier burden — how many people carry a rare variant somewhere in TCERG1L?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 66

857 rare PASS variants

Rare truncating (LoF)

1 in 1,800

111 rare PASS variants

Rare synonymous (reference)

1 in 92

356 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for TCERG1L. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 75	1 in 2,600
South Asian	~43k	1 in 50	1 in 650
Remaining (unassigned)	~30k	1 in 51	1 in 2,100
European (Finnish)	~27k	1 in 260	1 in 4,300
Admixed American	~22k	1 in 46	1 in 1,000
African / African American	~21k	1 in 50	1 in 1,000
East Asian	~20k	1 in 79	1 in 2,200
Ashkenazi Jewish	~13k	1 in 150	≈ 1 in 4,300
Middle Eastern	~2,884	1 in 44	≈ 1 in 2,900

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 9 of 12 coding exons well covered in gnomAD exomes; exons 1, 4, 10 marginal. Genomes: all 12.? see exons ↓