PPP1R36

Alhathal et al., 2020 (PMID: 32719396) reported a missense variant in a large male infertility cohort (n=285 infertile man and case–control fertile man). Gene is scored according to ClinGen classification. Limited with total score of 4. Single variant segregation (3 points), experimental evidence: testicular expression (1 points) (PMID: 27965440).

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to PPP1R36 variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 66

not providedTotal: 3

AutismTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_172365.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous					1 clinvar	1
missense			65 clinvar	3 clinvar	2 clinvar	70
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			6 clinvar			6
Total	0	0	71	3	3	77

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 21 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_172365.3	RefSeq	NP_758953.1	12	MANE Select
ENST00000298705.6	Ensembl	ENSP00000298705.1	12	MANE Select
ENST00000467261.5	Ensembl	ENSP00000435229.1	3	Standard
ENST00000555645.5	Ensembl	ENSP00000451900.1	4	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

negative regulation of phosphatase activity
negative regulation of phosphoprotein phosphatase activity

Molecular Function

protein phosphatase inhibitor activity
phosphatase binding

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000298705
Coding exons: 12
Length: 39479
Individuals with no LoFs: 125623
Homozygous LoFs: 0
Heterozygous LoFs: 125
Defined: 125748
p: 0.000497

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.165	221	228	0.969	0.0000121	2774
Missense (PolyPhen)		58	59.984	0.96693		806
Synonymous	0.941	67	77.5	0.864	0.00000399	755
Loss of Function	1.03	18	23.4	0.770	0.00000127	295

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0015	0.0014	notable
Latino/Admixed American	0.00048	0.00046	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00098	0.00098	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.00031	0.00031	rare
South Asian	0.0010	0.0010	notable
Other	0.00036	0.00033	rare

dbNSFP Gene Annotations

Source: dbNSFP

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

Intolerance Scores

RVIS EVS: 1.11
RVIS percentile EVS: 92.06

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.114

Gene Damage Prediction

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