TCERG1L

protein-coding

transcription elongation regulator 1 like

Gene summary

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]

MANE transcript

NM_174937.4

Inheritance

—

ClinVar variants

U:98B:8

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.7

Max pathogenic AF

—

Genomic locus

chr10:131,092,391-131,311,721

External References & Databases

Ensembl (ENSG00000176769)

Transcript & Mutation Effects

hg38 • Region Span ~219.3 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to TCERG1L variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 100

not providedTotal: 5

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_174937.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				2 clinvar		2
missense			98 clinvar	6 clinvar		104
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	98	8	0	106

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 9 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_174937.4	RefSeq	NP_777597.2	12	MANE Select
ENST00000368642.4	Ensembl	ENSP00000357631.4	12	MANE Select
ENST00000935680.1	Ensembl	ENSP00000605739.1	13	Standard
ENST00000935680.2	Ensembl	ENSP00000605739.1	13	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Cellular Component

nucleus

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000368642
Coding exons: 12
Length: 219331
Individuals with no LoFs: 125570
Homozygous LoFs: 0
Heterozygous LoFs: 39
Defined: 125609
p: 0.000155

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.466	241	262	0.919	0.0000158	3704
Missense (PolyPhen)		70	93.599	0.74787		1080
Synonymous	0.706	98	107	0.913	0.00000689	1216
Loss of Function	1.33	16	22.8	0.700	0.00000140	287

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00046	0.00043	rare
Latino/Admixed American	0.00030	0.00029	rare
Ashkenazi Jewish	0.000099	0.000099	rare
East Asian	0.000055	0.000054	rare
Finnish	0.000047	0.000046	rare
European (Non-Finnish)	0.00011	0.00011	rare
South Asian	0.00027	0.00023	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.0933

Intolerance Scores

LoFtool: 0.965
RVIS EVS: 0.33
RVIS percentile EVS: 73.61

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.121

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium