PPP1R14C

protein phosphatase 1 regulatory inhibitor subunit 14C, the group of Protein phosphatase 1 regulatory subunits

Basic information

Region (hg38): 6:150143044-150250392

Links

ENSG00000198729 ∙ NCBI:81706 ∙ OMIM:613242 ∙ HGNC:14952 ∙ Uniprot:Q8TAE6 ∙ 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 PPP1R14C gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PPP1R14C 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			8			8
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	8	0	0

Variants in PPP1R14C

This is a list of pathogenic ClinVar variants found in the PPP1R14C region.

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

Position	Type	Phenotype	Significance	ClinVar
6-150143272-G-A		not specified	Uncertain significance (Aug 11, 2022)
6-150143275-G-A		not specified	Uncertain significance (Apr 23, 2024)
6-150143304-A-G		not specified	Uncertain significance (Oct 25, 2022)
6-150143335-C-A		not specified	Uncertain significance (May 04, 2022)
6-150143340-G-A		not specified	Uncertain significance (Dec 27, 2023)
6-150143340-G-T		not specified	Uncertain significance (Jul 27, 2021)
6-150143352-G-A		not specified	Uncertain significance (Sep 01, 2021)
6-150143474-G-C		not specified	Uncertain significance (Jul 14, 2023)
6-150143496-G-A		not specified	Uncertain significance (Jun 30, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PPP1R14C	protein_coding	protein_coding	ENST00000361131	4	107282

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00203	0.757	125697	0	6	125703	0.0000239

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.670	63	79.9	0.789	0.00000375	1034
Missense in Polyphen		24	26.751	0.89716		349
Synonymous	-0.732	37	31.8	1.17	0.00000151	330
Loss of Function	0.920	5	7.77	0.644	3.31e-7	91

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000306	0.0000306
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000274	0.0000264
Middle Eastern	0.00	0.00
South Asian	0.0000689	0.0000654
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Inhibitor of the PP1 regulatory subunit PPP1CA.
• Pathway: Glucocorticoid Receptor Pathway;Nuclear Receptors Meta-Pathway;Integrin-linked kinase signaling (Consensus)

Recessive Scores

• pRec: 0.0972

Intolerance Scores

• loftool: 0.562
• rvis_EVS: 0.04
• rvis_percentile_EVS: 56.25

Haploinsufficiency Scores

• pHI: 0.144
• hipred: N
• hipred_score: 0.499
• ghis: 0.562

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.478

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ppp1r14c
• Phenotype: integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan)

Gene ontology

• Biological process: negative regulation of phosphoprotein phosphatase activity;regulation of phosphorylation
• Cellular component: cytoplasm;membrane
• Molecular function: protein serine/threonine phosphatase inhibitor activity