PPIG

peptidylprolyl isomerase G, the group of Cyclophilin peptidylprolyl isomerases|Spliceosomal C complex|Spliceosomal P complex

Basic information

Region (hg38): 2:169584342-169641406

Links

ENSG00000138398NCBI:9360OMIM:606093HGNC:14650Uniprot:Q13427AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the PPIG gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PPIG 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
1
clinvar
3
clinvar
4
missense
29
clinvar
1
clinvar
30
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
1
clinvar
1
Total 0 0 29 1 5

Variants in PPIG

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

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

Position Type Phenotype Significance ClinVar
2-169604247-G-A not specified Uncertain significance (Dec 28, 2023)3217201
2-169606064-T-A Benign (Jul 17, 2018)773127
2-169606081-A-G not specified Uncertain significance (Jan 23, 2024)3217205
2-169606088-T-A not specified Uncertain significance (Jan 09, 2024)3217208
2-169614707-T-C not specified Uncertain significance (Sep 06, 2022)2310075
2-169630791-A-C not specified Uncertain significance (Mar 21, 2023)2527850
2-169630819-C-G not specified Uncertain significance (Jun 06, 2023)2557287
2-169630919-A-G Likely benign (Nov 01, 2022)2651529
2-169631806-C-T not specified Uncertain significance (Apr 24, 2023)2536480
2-169631944-A-G Benign (Sep 14, 2018)1266632
2-169636123-G-A not specified Uncertain significance (Jul 27, 2022)2346117
2-169636198-C-T not specified Uncertain significance (Sep 12, 2023)2622657
2-169636421-T-G not specified Uncertain significance (May 01, 2024)3309189
2-169636543-C-G not specified Uncertain significance (May 03, 2023)2537927
2-169636565-G-A not specified Uncertain significance (Mar 21, 2023)2520723
2-169636743-A-G Benign (May 17, 2018)785854
2-169636879-C-T not specified Uncertain significance (Dec 11, 2023)3217202
2-169636882-G-A not specified Uncertain significance (May 07, 2024)3309187
2-169636927-A-G not specified Uncertain significance (Oct 04, 2022)2211021
2-169636928-G-A not specified Uncertain significance (Aug 08, 2022)2306249
2-169636996-C-T not specified Uncertain significance (Aug 02, 2021)2239900
2-169636997-A-G not specified Uncertain significance (Oct 20, 2023)3217203
2-169637008-C-T not specified Uncertain significance (Jul 19, 2023)2597167
2-169637030-A-G not specified Uncertain significance (Jun 27, 2022)2297809
2-169637036-A-C not specified Uncertain significance (Feb 28, 2024)3217204

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
PPIGprotein_codingprotein_codingENST00000260970 1257067
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.9630.03711256940511257450.000203
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.722893840.7530.00002005026
Missense in Polyphen1763.8840.26611776
Synonymous-1.201411241.140.000006101252
Loss of Function4.93741.10.1700.00000259533

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0007510.000744
Ashkenazi Jewish0.000.00
East Asian0.0002760.000272
Finnish0.00009390.0000924
European (Non-Finnish)0.0001440.000141
Middle Eastern0.0002760.000272
South Asian0.0002070.000196
Other0.0001710.000163

dbNSFP

Source: dbNSFP

Function
FUNCTION: PPIase that catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and may therefore assist protein folding (PubMed:20676357). May be implicated in the folding, transport, and assembly of proteins. May play an important role in the regulation of pre-mRNA splicing. {ECO:0000269|PubMed:20676357}.;
Pathway
Methionine and cysteine metabolism (Consensus)

Recessive Scores

pRec
0.518

Intolerance Scores

loftool
0.847
rvis_EVS
0.02
rvis_percentile_EVS
55.69

Haploinsufficiency Scores

pHI
0.641
hipred
Y
hipred_score
0.783
ghis
0.584

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.818

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumHigh
CancerHighMediumHigh

Mouse Genome Informatics

Gene name
Ppig
Phenotype

Gene ontology

Biological process
protein peptidyl-prolyl isomerization;RNA splicing;protein refolding
Cellular component
cytosol;nuclear matrix;nuclear speck
Molecular function
RNA binding;peptidyl-prolyl cis-trans isomerase activity;protein binding;cyclosporin A binding;unfolded protein binding