TP53I13

protein-coding

tumor protein p53 inducible protein 13

Gene summary

Involved in negative regulation of cell cycle; response to UV; and response to xenobiotic stimulus. Located in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_138349.4

Inheritance

—

ClinVar variants

U:79B:3

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.53

Max pathogenic AF

—

Genomic locus

chr17:29,566,052-29,573,157

External References & Databases

Ensembl (ENSG00000167543)

Transcript & Mutation Effects

hg38 • Region Span ~7.1 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 TP53I13 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 75

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_138349.4. 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			75 clinvar	3 clinvar		78
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	79	3	0	82

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 53 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_138349.4	RefSeq	NP_612358.3	7	MANE Select
ENST00000301057.8	Ensembl	ENSP00000301057.7	7	MANE Select
NM_001346077.1	RefSeq	NP_001333006.1	6	Standard
NM_001346078.1	RefSeq	NP_001333007.1	6	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

response to UV
response to organic cyclic compound
response to drug
negative regulation of cell cycle

Molecular Function

molecular_function

Cellular Component

cytoplasm
plasma membrane
integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000301057
Coding exons: 7
Length: 7106
Individuals with no LoFs: 124728
Homozygous LoFs: 0
Heterozygous LoFs: 46
Defined: 124774
p: 0.000184

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.0678	223	226	0.987	0.0000126	2421
Missense (PolyPhen)		72	77.245	0.9321		894
Synonymous	0.728	86	95.0	0.905	0.00000515	896
Loss of Function	1.81	9	17.0	0.528	9.32e-7	169

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00013	0.00013	rare
Latino/Admixed American	0.00027	0.00026	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0.00033	0.00032	rare
European (Non-Finnish)	0.00021	0.00020	rare
South Asian	0.00020	0.00016	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May act as a tumor suppressor. Inhibits tumor cell growth, when overexpressed. {ECO:0000269|PubMed:14767535}.;

Recessive Scores

pRec: 0.0901

Intolerance Scores

LoFtool: 0.272
RVIS EVS: -0.21
RVIS percentile EVS: 38.58

Essentials

Essential (CRISPR): E
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.145

Gene Damage Prediction

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