PPIAL4E

peptidylprolyl isomerase A like 4E

Basic information

Region (hg38): 1:144372875-144373634

Links

ENSG00000271567 ∙ NCBI:730262 ∙ OMIM:608608 ∙ HGNC:33997 ∙ Uniprot:A0A075B759 ∙ 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 PPIAL4E gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PPIAL4E 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			16	1		17
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding				1		1
Total	0	0	16	2	0

Variants in PPIAL4E

This is a list of pathogenic ClinVar variants found in the PPIAL4E region.

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

Position	Type	Phenotype	Significance	ClinVar
1-144373149-C-A		not specified	Uncertain significance (Mar 06, 2023)
1-144373160-A-A		not specified	Likely benign (Mar 29, 2022)
1-144373182-G-A		not specified	Uncertain significance (Dec 28, 2024)
1-144373203-C-T		not specified	Uncertain significance (May 08, 2024)
1-144373209-G-A		not specified	Uncertain significance (Feb 13, 2023)
1-144373218-C-T		not specified	Uncertain significance (Oct 08, 2024)
1-144373224-A-C		not specified	Uncertain significance (Nov 27, 2024)
1-144373224-A-G		not specified	Uncertain significance (Feb 19, 2025)
1-144373225-C-G		not specified	Uncertain significance (Jan 04, 2022)
1-144373244-A-T		not specified	Uncertain significance (Jun 29, 2023)
1-144373285-C-G		not specified	Uncertain significance (Dec 08, 2023)
1-144373311-G-A		not specified	Uncertain significance (Sep 08, 2024)
1-144373344-C-T		not specified	Likely benign (Dec 22, 2024)
1-144373346-C-A		not specified	Uncertain significance (Dec 21, 2023)
1-144373360-G-C		not specified	Uncertain significance (Dec 15, 2022)
1-144373365-C-T		not specified	Uncertain significance (Oct 10, 2023)
1-144373379-C-T		not specified	Uncertain significance (Nov 09, 2024)
1-144373380-G-A		not specified	Likely benign (Dec 03, 2021)
1-144373445-C-T		not specified	Uncertain significance (Jul 20, 2021)
1-144373472-G-A		not specified	Uncertain significance (May 29, 2024)
1-144373475-C-T		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}.

Gene ontology

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