PPP1R32

protein phosphatase 1 regulatory subunit 32, the group of Protein phosphatase 1 regulatory subunits

Basic information

Region (hg38): 11:61481119-61490931

Previous symbols: [ "C11orf66" ]

Links

ENSG00000162148 ∙ NCBI:220004 ∙ OMIM:619047 ∙ HGNC:28869 ∙ Uniprot:Q7Z5V6 ∙ 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 PPP1R32 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PPP1R32 gene is commonly pathogenic or not. These statistics are base on transcript: . 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						0
missense			53	4	1	58
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	53	4	1

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PPP1R32	protein_coding	protein_coding	ENST00000338608	12	9812

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.44e-15	0.0326	125418	1	328	125747	0.00131

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0187	258	259	0.997	0.0000153	2758
Missense in Polyphen		77	73.432	1.0486		852
Synonymous	1.18	88	103	0.852	0.00000637	819
Loss of Function	0.462	24	26.6	0.903	0.00000145	275

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00909	0.00905
Ashkenazi Jewish	0.00	0.00
East Asian	0.00364	0.00365
Finnish	0.000142	0.000139
European (Non-Finnish)	0.000768	0.000756
Middle Eastern	0.00364	0.00365
South Asian	0.000163	0.000163
Other	0.000979	0.000978

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: 0.74
• rvis_percentile_EVS: 86.33

Haploinsufficiency Scores

• pHI: 0.256
• hipred: N
• hipred_score: 0.146
• ghis: 0.454

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ppp1r32
• Phenotype: pigmentation 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)

Gene ontology

• Molecular function: protein binding;phosphatase binding