PPIAL4G

peptidylprolyl isomerase A like 4G

Basic information

Region (hg38): 1:148482548-148483302

Links

ENSG00000236334 ∙ NCBI:644591 ∙ ∙ HGNC:33996 ∙ Uniprot:P0DN37 ∙ 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 PPIAL4G gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PPIAL4G 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	2		18
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	3	0

Variants in PPIAL4G

This is a list of pathogenic ClinVar variants found in the PPIAL4G region.

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

Position	Type	Phenotype	Significance	ClinVar
1-148482984-C-T		not specified	Uncertain significance (Oct 05, 2023)
1-148482997-C-T		not specified	Uncertain significance (Jul 20, 2022)
1-148483024-A-G		not specified	Uncertain significance (Aug 09, 2021)
1-148483028-G-C		not specified	Uncertain significance (Dec 05, 2022)
1-148483034-G-G			Likely benign (May 01, 2022)
1-148483035-G-C		not specified	Uncertain significance (Aug 10, 2021)
1-148483059-C-G		not specified	Uncertain significance (Feb 27, 2024)
1-148483063-C-T		not specified	Uncertain significance (Jan 26, 2025)
1-148483068-C-T		not specified	Uncertain significance (Jan 27, 2025)
1-148483086-A-T		not specified	Uncertain significance (May 31, 2023)
1-148483087-T-G		not specified	Uncertain significance (Jun 10, 2024)
1-148483089-C-A		not specified	Uncertain significance (Aug 04, 2024)
1-148483096-A-G		not specified	Uncertain significance (Apr 26, 2023)
1-148483111-A-G		not specified	Uncertain significance (Mar 17, 2023)
1-148483113-C-A		not specified	Uncertain significance (May 23, 2024)
1-148483156-C-T		not specified	Uncertain significance (Jun 13, 2023)
1-148483174-C-T		not specified	Uncertain significance (Dec 02, 2022)
1-148483185-T-C		not specified	Uncertain significance (Mar 07, 2024)
1-148483197-C-T		not specified	Uncertain significance (Mar 14, 2023)
1-148483219-C-T			Likely benign (Apr 01, 2023)
1-148483240-C-T			Likely benign (Nov 01, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PPIAL4G	protein_coding	protein_coding	ENST00000419275	1	738

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.952	101	77.4	1.30	0.00000440	970
Missense in Polyphen		17	12.568	1.3527		233
Synonymous	0.886	23	29.1	0.791	0.00000173	273
Loss of Function

LoF frequencies by population

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

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}.

Intolerance Scores

• loftool: 0.636
• rvis_EVS: 1.32
• rvis_percentile_EVS: 94.09

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	High	Medium	High
Cancer	High	High	High

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