TP53AIP1

tumor protein p53 regulated apoptosis inducing protein 1

Basic information

Region (hg38): 11:128934730-128943399

Links

ENSG00000120471 ∙ NCBI:63970 ∙ OMIM:605426 ∙ HGNC:29984 ∙ Uniprot:Q9HCN2 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the TP53AIP1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TP53AIP1 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			8			8
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	8	0	0

Variants in TP53AIP1

This is a list of pathogenic ClinVar variants found in the TP53AIP1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
11-128935600-C-G		not specified	Uncertain significance (Jan 23, 2024)
11-128935674-C-G		not specified	Uncertain significance (Mar 16, 2024)
11-128936565-A-G		not specified	Uncertain significance (Jun 21, 2023)
11-128936567-C-G		not specified	Uncertain significance (Jun 18, 2021)
11-128936579-G-A		not specified	Uncertain significance (Jan 26, 2022)
11-128936604-G-A		not specified	Uncertain significance (Dec 20, 2023)
11-128936613-C-T		not specified	Uncertain significance (Jul 05, 2023)
11-128937682-C-A		not specified	Uncertain significance (Sep 12, 2023)
11-128937692-G-A		not specified	Uncertain significance (Apr 09, 2024)
11-128937761-T-C		not specified	Uncertain significance (Jan 30, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TP53AIP1	protein_coding	protein_coding	ENST00000531399	3	8415

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000130	0.126	125715	0	11	125726	0.0000437

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0397	61	61.9	0.986	0.00000308	753
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.000326	0.000326
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.000326	0.000326
South Asian	0.000163	0.000163
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play an important role in mediating p53/TP53- dependent apoptosis. {ECO:0000269|PubMed:11030628}.
• Pathway: 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;DNA Damage Response;Gene expression (Transcription);Generic Transcription Pathway;TP53 Regulates Transcription of Cell Death Genes;RNA Polymerase II Transcription;p73 transcription factor network;TP53 Regulates Transcription of Genes Involved in Cytochrome C Release;Transcriptional Regulation by TP53;p53 pathway (Consensus)

Intolerance Scores

• loftool: 0.724
• rvis_EVS: 0.86
• rvis_percentile_EVS: 88.56

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.123
• ghis: 0.416

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.433

Gene Damage Prediction

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

Gene ontology

• Biological process: apoptotic process;regulation of apoptotic process
• Cellular component: mitochondrion;mitochondrial matrix
• Molecular function: molecular_function