PPIG

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

Basic information

Region (hg38): 2:169584342-169641406

Links

ENSG00000138398 ∙ NCBI:9360 ∙ OMIM:606093 ∙ HGNC:14650 ∙ Uniprot:Q13427 ∙ 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 PPIG gene.

• not_specified (59 variants)
• not_provided (5 variants)

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. These statistics are base on transcript: NM_000004792.3. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				2	3	5
missense			58		1	59
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	58	2	4

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PPIG	protein_coding	protein_coding	ENST00000260970	12	57067

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.963	0.0371	125694	0	51	125745	0.000203

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.72	289	384	0.753	0.0000200	5026
Missense in Polyphen		17	63.884	0.26611		776
Synonymous	-1.20	141	124	1.14	0.00000610	1252
Loss of Function	4.93	7	41.1	0.170	0.00000259	533

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000751	0.000744
Ashkenazi Jewish	0.00	0.00
East Asian	0.000276	0.000272
Finnish	0.0000939	0.0000924
European (Non-Finnish)	0.000144	0.000141
Middle Eastern	0.000276	0.000272
South Asian	0.000207	0.000196
Other	0.000171	0.000163

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

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

Mouse Genome Informatics

• Gene name: Ppig

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