PPP1R8

protein phosphatase 1 regulatory subunit 8, the group of Protein phosphatase 1 regulatory subunits|Small nucleolar RNA protein coding host genes|Endoribonucleases

Basic information

Region (hg38): 1:27830782-27851676

Links

ENSG00000117751 ∙ NCBI:5511 ∙ OMIM:602636 ∙ HGNC:9296 ∙ Uniprot:Q12972 ∙ 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 PPP1R8 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PPP1R8 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			11			11
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	11	0	0

Variants in PPP1R8

This is a list of pathogenic ClinVar variants found in the PPP1R8 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-27830864-G-A		not specified	Uncertain significance (Jul 12, 2023)
1-27832769-C-T		not specified	Uncertain significance (Dec 21, 2024)
1-27841049-C-T		not specified	Uncertain significance (Mar 02, 2023)
1-27850095-G-T		not specified	Uncertain significance (Apr 14, 2022)
1-27850100-G-A		not specified	Uncertain significance (Dec 28, 2022)
1-27850136-C-T		not specified	Uncertain significance (Jun 18, 2021)
1-27850163-C-T		not specified	Uncertain significance (Jan 15, 2025)
1-27850171-G-A		not specified	Uncertain significance (May 28, 2024)
1-27850183-G-A		not specified	Uncertain significance (Aug 17, 2022)
1-27850231-A-T		not specified	Uncertain significance (Jan 18, 2025)
1-27850241-C-G		not specified	Uncertain significance (May 08, 2024)
1-27850266-G-A		not specified	Uncertain significance (Dec 15, 2023)
1-27850363-G-C		not specified	Uncertain significance (Oct 29, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PPP1R8	protein_coding	protein_coding	ENST00000311772	7	20899

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.988	0.0121	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.91	85	201	0.423	0.0000108	2282
Missense in Polyphen		4	63.773	0.062723		757
Synonymous	-0.141	80	78.4	1.02	0.00000435	713
Loss of Function	3.38	0	13.3	0.00	6.22e-7	183

LoF frequencies by population

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

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Inhibitor subunit of the major nuclear protein phosphatase-1 (PP-1). It has RNA-binding activity but does not cleave RNA and may target PP-1 to RNA-associated substrates. May also be involved in pre-mRNA splicing. Binds DNA and might act as a transcriptional repressor. Seems to be required for cell proliferation.

Recessive Scores

• pRec: 0.163

Intolerance Scores

• rvis_EVS: -0.12
• rvis_percentile_EVS: 44.89

Haploinsufficiency Scores

• pHI: 0.757
• hipred: Y
• hipred_score: 0.783
• ghis: 0.600

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.994

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ppp1r8
• Phenotype: endocrine/exocrine gland phenotype; growth/size/body region phenotype; 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); immune system phenotype; liver/biliary system phenotype; embryo phenotype

Gene ontology

• Biological process: mRNA processing;RNA catabolic process;cell population proliferation;RNA splicing;negative regulation of phosphoprotein phosphatase activity;production of miRNAs involved in gene silencing by miRNA;negative regulation of protein dephosphorylation;RNA phosphodiester bond hydrolysis
• Cellular component: nucleus;nucleoplasm;spliceosomal complex;cytoplasm;nuclear speck
• Molecular function: DNA binding;RNA binding;mRNA binding;endonuclease activity;protein serine/threonine phosphatase inhibitor activity;protein binding;ribonuclease E activity