PPP1R1B
Basic information
Region (hg38): 17:39626740-39636626
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (15 variants)
- not_provided (6 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. These statistics are base on transcript: NM_000032192.4. 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 | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 3 | |||||
| missense | 17 | 18 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 19 | 0 | 2 |
GnomAD
Source:
| 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:
- 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