PPIL6

peptidylprolyl isomerase like 6, the group of Cyclophilin peptidylprolyl isomerases

Basic information

Region (hg38): 6:109390215-109441171

Links

ENSG00000185250 ∙ NCBI:285755 ∙ ∙ HGNC:21557 ∙ Uniprot:Q8IXY8 ∙ 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 PPIL6 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PPIL6 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			23	2		25
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	24	2	0

Variants in PPIL6

This is a list of pathogenic ClinVar variants found in the PPIL6 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-109392863-A-G		not specified	Uncertain significance (Jul 20, 2022)
6-109392927-C-T		not specified	Uncertain significance (Apr 06, 2024)
6-109392929-A-G		not specified	Uncertain significance (Nov 09, 2022)
6-109400099-C-T		not specified	Uncertain significance (Jul 11, 2023)
6-109400111-G-A		not specified	Uncertain significance (Jul 11, 2023)
6-109400119-T-C		not specified	Uncertain significance (Jul 06, 2022)
6-109400134-A-G		not specified	Uncertain significance (Sep 27, 2024)
6-109400163-G-T		not specified	Uncertain significance (Apr 07, 2022)
6-109400165-T-C		not specified	Uncertain significance (Nov 12, 2021)
6-109403046-T-A		not specified	Uncertain significance (Sep 13, 2023)
6-109403058-C-G		not specified	Uncertain significance (Jan 29, 2024)
6-109403085-T-G		not specified	Uncertain significance (Apr 15, 2024)
6-109419202-C-A		not specified	Uncertain significance (Nov 25, 2024)
6-109427114-T-C		not specified	Uncertain significance (Oct 03, 2022)
6-109427126-C-T			Uncertain significance (Feb 14, 2024)
6-109427147-C-A		not specified	Uncertain significance (Oct 12, 2021)
6-109431213-C-T		not specified	Uncertain significance (Nov 08, 2022)
6-109431225-T-G		not specified	Uncertain significance (Apr 20, 2024)
6-109431314-G-A		not specified	Uncertain significance (Jun 16, 2023)
6-109436136-C-T		not specified	Uncertain significance (Dec 06, 2022)
6-109436151-G-A		not specified	Uncertain significance (Apr 20, 2024)
6-109436189-T-C		not specified	Likely benign (Jun 12, 2023)
6-109440458-C-T		not specified	Uncertain significance (Oct 12, 2021)
6-109440496-A-T		not specified	Uncertain significance (Feb 16, 2023)
6-109440523-G-A		not specified	Uncertain significance (Feb 15, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PPIL6	protein_coding	protein_coding	ENST00000440797	9	50957

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.75e-9	0.229	125691	0	55	125746	0.000219

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.241	175	166	1.05	0.00000815	2201
Missense in Polyphen		77	68.878	1.1179		899
Synonymous	0.530	54	59.2	0.912	0.00000306	617
Loss of Function	0.598	15	17.7	0.847	8.81e-7	221

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000666	0.000642
Ashkenazi Jewish	0.00	0.00
East Asian	0.000164	0.000163
Finnish	0.000139	0.000139
European (Non-Finnish)	0.000288	0.000264
Middle Eastern	0.000164	0.000163
South Asian	0.000147	0.000131
Other	0.000613	0.000489

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Probable inactive PPIase with no peptidyl-prolyl cis- trans isomerase activity. {ECO:0000269|PubMed:20676357}.
• Pathway: Metabolism of RNA;mRNA Splicing - Major Pathway;mRNA Splicing;Processing of Capped Intron-Containing Pre-mRNA (Consensus)

Recessive Scores

• pRec: 0.101

Intolerance Scores

• loftool: 0.935
• rvis_EVS: -0.25
• rvis_percentile_EVS: 35.75

Haploinsufficiency Scores

• pHI: 0.145
• hipred: N
• hipred_score: 0.170
• ghis: 0.615

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.415

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ppil6

Gene ontology

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