PPP1R1B

protein phosphatase 1 regulatory inhibitor subunit 1B, the group of Protein phosphatase 1 regulatory subunits

Basic information

Region (hg38): 17:39626739-39636626

Links

ENSG00000131771 ∙ NCBI:84152 ∙ OMIM:604399 ∙ HGNC:9287 ∙ Uniprot:Q9UD71 ∙ 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 PPP1R1B gene.

• not provided (6 variants)
• Inborn genetic diseases (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PPP1R1B gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous					1	1
missense			4		1	5
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	4	0	2

Variants in PPP1R1B

This is a list of pathogenic ClinVar variants found in the PPP1R1B region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
17-39627464-G-A			not provided (-)
17-39629174-G-A			not provided (-)
17-39633951-G-A		not specified	Uncertain significance (Jul 25, 2023)
17-39634018-A-G		not specified	Uncertain significance (Apr 07, 2022)
17-39634034-G-A			not provided (-)
17-39634084-C-A		not specified	Uncertain significance (Feb 28, 2023)
17-39635627-G-A		not specified	Uncertain significance (Jul 26, 2022)
17-39635641-A-G			Benign (Jul 23, 2018)
17-39635654-C-A			not provided (-)
17-39635663-C-G		not specified	Uncertain significance (Oct 17, 2023)
17-39635843-C-A			Benign (Jul 18, 2018)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PPP1R1B	protein_coding	protein_coding	ENST00000254079	7	9887

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.241	0.753	125731	0	16	125747	0.0000636

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.732	93	115	0.808	0.00000630	1310
Missense in Polyphen		51	56.939	0.8957		597
Synonymous	-0.139	45	43.8	1.03	0.00000224	385
Loss of Function	2.36	3	11.7	0.256	5.01e-7	149

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000206	0.000206
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.000139	0.000139
European (Non-Finnish)	0.0000352	0.0000352
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.000326	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Inhibitor of protein-phosphatase 1.
• Pathway: Dopaminergic synapse - Homo sapiens (human);cAMP signaling pathway - Homo sapiens (human);Amphetamine addiction - Homo sapiens (human);Alcoholism - Homo sapiens (human);Cocaine addiction - Homo sapiens (human);Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics;Nicotine Activity on Dopaminergic Neurons;Phosphodiesterases in neuronal function;Signaling by GPCR;Signal Transduction;fosb gene expression and drug abuse;regulation of ck1/cdk5 by type 1 glutamate receptors;DARPP-32 events;Opioid Signalling;G alpha (i) signalling events;GPCR downstream signalling (Consensus)

Recessive Scores

• pRec: 0.477

Intolerance Scores

• loftool: 0.335
• rvis_EVS: 0.13
• rvis_percentile_EVS: 63

Haploinsufficiency Scores

• pHI: 0.205
• hipred: Y
• hipred_score: 0.508
• ghis: 0.456

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.873

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ppp1r1b
• Phenotype: homeostasis/metabolism phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan)

Gene ontology

• Biological process: response to amphetamine;transcription, DNA-templated;signal transduction;memory;negative regulation of female receptivity;locomotory behavior;visual learning;negative regulation of phosphoprotein phosphatase activity;response to nicotine;intracellular signal transduction;response to morphine;behavioral response to cocaine;negative regulation of protein serine/threonine kinase activity
• Cellular component: nucleus;cytoplasm;cytosol;neuronal cell body;dendritic spine neck;dendritic spine head;glutamatergic synapse
• Molecular function: protein kinase inhibitor activity;cAMP-dependent protein kinase inhibitor activity;protein phosphatase inhibitor activity;protein binding;protein phosphatase regulator activity;D1 dopamine receptor binding;D2 dopamine receptor binding;D3 dopamine receptor binding;D4 dopamine receptor binding;D5 dopamine receptor binding