PPP1R35

protein phosphatase 1 regulatory subunit 35, the group of Protein phosphatase 1 regulatory subunits

Basic information

Region (hg38): 7:100435282-100436497

Previous symbols: [ "C7orf47" ]

Links

ENSG00000160813 ∙ NCBI:221908 ∙ OMIM:618937 ∙ HGNC:28320 ∙ Uniprot:Q8TAP8 ∙ 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 PPP1R35 gene.

• not_specified (43 variants)
• not_provided (1 variants)
• Progressive_microcephaly (1 variants)
• See_cases (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PPP1R35 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000145030.4. 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	1					1
missense			43	1		44
nonsense						0
start loss						0
frameshift	1		1			2
splice donor/acceptor (+/-2bp)						0
Total	2	0	44	1	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PPP1R35	protein_coding	protein_coding	ENST00000292330	4	1284

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00717	0.782	125661	0	45	125706	0.000179

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0493	126	124	1.01	0.00000590	1553
Missense in Polyphen		44	47.708	0.92229		583
Synonymous	-1.25	69	57.0	1.21	0.00000271	574
Loss of Function	0.950	4	6.64	0.602	2.86e-7	90

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000245	0.000241
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000577	0.0000544
Finnish	0.000584	0.000554
European (Non-Finnish)	0.000196	0.000185
Middle Eastern	0.0000577	0.0000544
South Asian	0.000136	0.000131
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Inhibits PPP1CA phosphatase activity. {ECO:0000269|PubMed:19389623}.

Haploinsufficiency Scores

• pHI: 0.0788
• hipred: N
• hipred_score: 0.180
• ghis: 0.569

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• 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: Ppp1r35
• Phenotype: behavior/neurological phenotype (the observable actions or reactions of mammalian organisms 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); homeostasis/metabolism phenotype

Gene ontology

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