PPIAL4A

peptidylprolyl isomerase A like 4A

Basic information

Region (hg38): 1:120889771-120890530

Previous symbols: [ "PPIAL4", "PPIAL4B" ]

Links

ENSG00000263353 ∙ NCBI:653505 ∙ ∙ HGNC:24369 ∙ Uniprot:Q9Y536 ∙ 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 PPIAL4A gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PPIAL4A 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			10			10
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	10	0	0

Variants in PPIAL4A

This is a list of pathogenic ClinVar variants found in the PPIAL4A region.

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

Position	Type	Phenotype	Significance	ClinVar
1-120889860-G-A		not specified	Uncertain significance (Nov 12, 2021)
1-120889861-G-A		not specified	Uncertain significance (Oct 22, 2024)
1-120889875-C-G		not specified	Uncertain significance (Jun 02, 2023)
1-120889933-C-A		not specified	Uncertain significance (Aug 01, 2024)
1-120889960-G-A		not specified	Uncertain significance (Dec 02, 2024)
1-120889960-G-T		not specified	Uncertain significance (Apr 06, 2023)
1-120890013-G-T		not specified	Uncertain significance (Sep 26, 2024)
1-120890014-G-A		not specified	Uncertain significance (Jul 02, 2024)
1-120890029-A-G		not specified	Uncertain significance (Nov 09, 2023)
1-120890068-T-A		not specified	Uncertain significance (Feb 10, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides (By similarity). {ECO:0000250}.

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.187

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Gene ontology

• Biological process: protein peptidyl-prolyl isomerization;protein folding;protein refolding
• Cellular component: extracellular exosome
• Molecular function: peptidyl-prolyl cis-trans isomerase activity;cyclosporin A binding;unfolded protein binding