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.

not_specified (18 variants)

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. These statistics are base on transcript: NM_000014110.5. 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	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			18 clinvar			18
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	18	0	0

Loading clinvar variants...

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

loftool
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