PPIAP22

peptidylprolyl isomerase A pseudogene 22

Basic information

Region (hg38): 21:18857779-18858276

Previous symbols: [ "PPIAL3" ]

Links

ENSG00000198618

∙ NCBI:653214 ∙ ∙ HGNC:17236 ∙ ∙ ∙ 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 PPIAP22 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PPIAP22 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						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	0	0

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Pathway: Neutrophil degranulation;Disease;il-2 receptor beta chain in t cell activation;Prolactin;Minus-strand DNA synthesis;Assembly Of The HIV Virion;Budding and maturation of HIV virion;Late Phase of HIV Life Cycle;HIV Life Cycle;Host Interactions of HIV factors;HIV Infection;Plus-strand DNA synthesis;Infectious disease;Innate Immune System;Immune System;Binding and entry of HIV virion;APOBEC3G mediated resistance to HIV-1 infection;Platelet degranulation ;Response to elevated platelet cytosolic Ca2+;Platelet activation, signaling and aggregation;Cell surface interactions at the vascular wall;Hemostasis;Basigin interactions;Uncoating of the HIV Virion;Reverse Transcription of HIV RNA;Integration of provirus;Early Phase of HIV Life Cycle (Consensus)