TP53TG5
protein-codingTP53 target 5
Gene summary
Predicted to be involved in intracellular signal transduction and negative regulation of cell growth. Located in chromosome and nucleolus. [provided by Alliance of Genome Resources, Jul 2025]
- C20orf10
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~35.3 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
Inheritance Pattern: AR
Disease ID:MONDO:0100038
Submitter: Ambry Genetics
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to TP53TG5 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_014477.3. 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 | 0 | |||||
| missense | 42 | 7 | 49 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 3 | 3 | ||||
| Total | 0 | 0 | 45 | 7 | 0 | 52 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_055292.1 | 5 | MANE Select | |
| Ensembl | ENSP00000361811.3 | 5 | MANE Select | |
| Ensembl | ENSP00000772944.1 | 4 | Standard | |
| Ensembl | ENSP00000810092.1 | 5 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- negative regulation of cell growth
- intracellular signal transduction
Molecular Function
- molecular_function
Cellular Component
- nucleus
- cytoplasm
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000372726
- Coding exons
- 5
- Length
- 34004
- Individuals with no LoFs
- 125603
- Homozygous LoFs
- 1
- Heterozygous LoFs
- 144
- Defined
- 125748
- p
- 0.000577
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.487 | 152 | 170 | 0.895 | 0.0000104 | 1884 |
| Missense (PolyPhen) | 32 | 47.492 | 0.67379 | 511 | ||
| Synonymous | -0.249 | 69 | 66.4 | 1.04 | 0.00000387 | 549 |
| Loss of Function | 0.616 | 11 | 13.4 | 0.819 | 7.63e-7 | 153 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00031 | 0.00031 | rare |
| Latino/Admixed American | 0.00021 | 0.00020 | rare |
| Ashkenazi Jewish | 0.00010 | 0.000099 | rare |
| East Asian | 0 | 0.0 | absent |
| Finnish | 0.0039 | 0.0038 | notable |
| European (Non-Finnish) | 0.00035 | 0.00035 | rare |
| South Asian | 0.000067 | 0.000065 | rare |
| Other | 0.0012 | 0.0011 | notable |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: May play a significant role in p53/TP53-mediating signaling pathway. {ECO:0000269|PubMed:10719363}.;
Recessive Scores
- pRec
- 0.0629
Intolerance Scores
- LoFtool
- 0.841
- RVIS EVS
- 0.69
- RVIS percentile EVS
- 85.18
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.000580
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | High | Medium | High |
| Primary Immunodeficiency | High | High | High |
| Cancer | High | High | High |