PPP1R1C

protein phosphatase 1 regulatory inhibitor subunit 1C, the group of Protein phosphatase 1 regulatory subunits

Basic information

Region (hg38): 2:181954241-182131398

Links

ENSG00000150722 ∙ NCBI:151242 ∙ OMIM:613240 ∙ HGNC:14940 ∙ Uniprot:Q8WVI7 ∙ 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 PPP1R1C gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PPP1R1C 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			6			6
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	6	0	0

Variants in PPP1R1C

This is a list of pathogenic ClinVar variants found in the PPP1R1C region.

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

Position	Type	Phenotype	Significance	ClinVar
2-181986147-G-A		not specified	Uncertain significance (Nov 13, 2023)
2-181987858-C-A		not specified	Uncertain significance (Jan 04, 2022)
2-181987882-A-G		not specified	Uncertain significance (Dec 12, 2023)
2-181987888-A-G		not specified	Uncertain significance (Aug 22, 2023)
2-182063785-A-G		not specified	Uncertain significance (Dec 09, 2023)
2-182117233-G-A		not specified	Uncertain significance (Oct 06, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PPP1R1C	protein_coding	protein_coding	ENST00000280295	5	177158

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000235	0.312	124575	0	74	124649	0.000297

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.308	49	55.5	0.884	0.00000268	746
Missense in Polyphen		20	28.411	0.70395		396
Synonymous	1.33	11	18.2	0.605	8.67e-7	197
Loss of Function	0.0108	7	7.03	0.996	2.98e-7	93

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000871	0.0000871
Ashkenazi Jewish	0.0000994	0.0000993
East Asian	0.00	0.00
Finnish	0.00283	0.00283
European (Non-Finnish)	0.0000621	0.0000619
Middle Eastern	0.00	0.00
South Asian	0.0000654	0.0000654
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Inhibitor of protein-phosphatase 1. Promotes cell growth and cell cycle progress at the G1/S transition. May increase cell susceptibility to TNF-induced apoptosis. {ECO:0000269|PubMed:18310074, ECO:0000269|PubMed:19874272}.

Recessive Scores

• pRec: 0.0659

Intolerance Scores

• loftool: 0.739
• rvis_EVS: 0.04
• rvis_percentile_EVS: 56.25

Haploinsufficiency Scores

• pHI: 0.423
• hipred: N
• hipred_score: 0.230
• ghis: 0.471

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.218

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ppp1r1c

Gene ontology

• Biological process: cell cycle;negative regulation of phosphoprotein phosphatase activity;intracellular signal transduction;cell division
• Cellular component: cytoplasm
• Molecular function: protein phosphatase inhibitor activity