TP53AIP1

protein-coding

tumor protein p53 regulated apoptosis inducing protein 1

Gene summary

This gene is specifically expressed in the thymus, and encodes a protein that is localized to the mitochondrion. The expression of this gene is inducible by p53, and it is thought to play an important role in mediating p53-dependent apoptosis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011]

MANE transcript

NM_022112.3

Inheritance

—

ClinVar variants

U:26

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.73

Max pathogenic AF

—

Genomic locus

chr11:128,934,731-128,943,399

External References & Databases

Ensembl (ENSG00000120471)

Transcript & Mutation Effects

hg38 • Region Span ~8.7 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 TP53AIP1 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 24

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_022112.3. 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			25 clinvar			25
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	26	0	0	26

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 18 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_022112.3	RefSeq	NP_071395.2	3	MANE Select
ENST00000531399.6	Ensembl	ENSP00000432743.1	3	MANE Select
NM_001195194.1	RefSeq	NP_001182123.1	3	Standard
NM_001195195.2	RefSeq	NP_001182124.1	3	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

p53 signaling pathway - Homo sapiens (human)
Apoptosis - Homo sapiens (human)
miRNA Regulation of DNA Damage Response
TP53 Regulates Transcription of Cell Death Genes
miRNA regulation of p53 pathway in prostate cancer

Biological Process

apoptotic process
regulation of apoptotic process

Molecular Function

molecular_function

Cellular Component

mitochondrion
mitochondrial matrix

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000531399
Coding exons: 3
Length: 8415
Individuals with no LoFs: 125715
Homozygous LoFs: 0
Heterozygous LoFs: 11
Defined: 125726
p: 0.0000437

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.0397	61	61.9	0.986	0.00000308	753
Missense (PolyPhen)		9	7.9752	1.1285		67
Synonymous	0.275	25	26.8	0.932	0.00000155	271
Loss of Function	-1.26	6	3.47	1.73	1.48e-7	40

Population LoF Frequency

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

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May play an important role in mediating p53/TP53- dependent apoptosis. {ECO:0000269|PubMed:11030628}.;

Intolerance Scores

LoFtool: 0.724
RVIS EVS: 0.86
RVIS percentile EVS: 88.56

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.433

Gene Damage Prediction

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