TCEA1
protein-codingtranscription elongation factor A1, the group of General transcription factors
Gene summary
Enables transcription elongation factor activity. Involved in transcription elongation by RNA polymerase II. Located in nucleoplasm. Part of transcription factor TFIID complex. [provided by Alliance of Genome Resources, Jun 2026]
- TCEA
- GTF2S
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~55.9 kbGenCC 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 TCEA1 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_006756.4. 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 | 2 | ||||
| missense | 28 | 28 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 3 | 3 | ||||
| Total | 0 | 0 | 33 | 0 | 0 | 33 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_006747.1 | 10 | MANE Select | |
| Ensembl | ENSP00000428426.2 | 10 | MANE Select | |
| RefSeq | NP_958845.1 | 9 | Standard | |
| Ensembl | ENSP00000395483.2 | 9 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- DNA Repair
- Disease
- Gene expression (Transcription)
- Formation of HIV-1 elongation complex containing HIV-1 Tat
- Tat-mediated elongation of the HIV-1 transcript
Biological Process
- transcription-coupled nucleotide-excision repair
- regulation of transcription, DNA-templated
- transcription by RNA polymerase II
- transcription elongation from RNA polymerase II promoter
- positive regulation of exoribonuclease activity
Molecular Function
- DNA binding
- protein binding
- zinc ion binding
Cellular Component
- nucleus
- nucleoplasm
- transcription factor TFIID complex
- nucleolus
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000521604
- Coding exons
- 10
- Length
- 55978
- Individuals with no LoFs
- 124633
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 11
- Defined
- 124644
- p
- 0.0000441
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 1.38 | 104 | 152 | 0.685 | 0.00000768 | 1983 |
| Missense (PolyPhen) | 17 | 42.963 | 0.39569 | 619 | ||
| Synonymous | -0.0600 | 50 | 49.5 | 1.01 | 0.00000247 | 523 |
| Loss of Function | 3.26 | 2 | 16.1 | 0.124 | 8.07e-7 | 224 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0 | 0.0 | absent |
| Latino/Admixed American | 0 | 0.0 | absent |
| Ashkenazi Jewish | 0.00010 | 0.000099 | rare |
| East Asian | 0 | 0.0 | absent |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0.000054 | 0.000053 | rare |
| South Asian | 0.00013 | 0.00013 | rare |
| Other | 0 | 0.0 | absent |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Necessary for efficient RNA polymerase II transcription elongation past template-encoded arresting sites. The arresting sites in DNA have the property of trapping a certain fraction of elongating RNA polymerases that pass through, resulting in locked ternary complexes. Cleavage of the nascent transcript by S-II allows the resumption of elongation from the new 3'-terminus.;
- Disease
- DISEASE: Note=A chromosomal aberration involving TCEA1 may be a cause of salivary gland pleiomorphic adenomas (PA) [181030]. Pleiomorphic adenomas are the most common benign epithelial tumors of the salivary gland. Translocation t(3;8)(p21;q12) with PLAG1. {ECO:0000269|PubMed:10029085}.;
Recessive Scores
- pRec
- 0.130
Intolerance Scores
- LoFtool
- 0.279
- RVIS EVS
- 0.35
- RVIS percentile EVS
- 73.97
Essentials
- Essential (CRISPR)
- E
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- E
- Indispensability score
- 0.781
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |