PPP1R27

protein phosphatase 1 regulatory subunit 27, the group of Protein phosphatase 1 regulatory subunits|Ankyrin repeat domain containing

Basic information

Region (hg38): 17:81833492-81835050

Previous symbols: [ "DYSFIP1" ]

Links

ENSG00000182676 ∙ NCBI:116729 ∙ ∙ HGNC:16813 ∙ Uniprot:Q86WC6 ∙ 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 PPP1R27 gene.

• not_specified (21 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PPP1R27 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001007533.4. 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			19	2		21
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	19	2	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PPP1R27	protein_coding	protein_coding	ENST00000330261	3	1559

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000833	0.336	125629	1	23	125653	0.0000955

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.260	100	108	0.930	0.00000737	975
Missense in Polyphen		40	39.797	1.0051		368
Synonymous	-0.719	49	43.0	1.14	0.00000250	326
Loss of Function	-0.0751	6	5.80	1.03	3.31e-7	57

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000152	0.000151
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.000383	0.000277
European (Non-Finnish)	0.0000848	0.0000792
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000697	0.0000653
Other	0.000367	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Inhibits phosphatase activity of protein phosphatase 1 (PP1) complexes. {ECO:0000269|PubMed:19389623}.

Recessive Scores

• pRec: 0.105

Intolerance Scores

• rvis_EVS: -0.32
• rvis_percentile_EVS: 31.46

Haploinsufficiency Scores

• pHI: 0.213
• hipred: N
• hipred_score: 0.292
• ghis: 0.594

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: H
• 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: Ppp1r27

Gene ontology

• Biological process: negative regulation of phosphatase activity;negative regulation of phosphoprotein phosphatase activity
• Molecular function: protein phosphatase inhibitor activity;protein binding;phosphatase binding