PPP1R12B
Basic information
Region (hg38): 1:202348699-202592706
Previous symbols: [ "MYPT2" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the PPP1R12B 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 | |||||
missense | 62 | 65 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 1 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 4 | |||||
Total | 0 | 0 | 67 | 4 | 0 |
Variants in PPP1R12B
This is a list of pathogenic ClinVar variants found in the PPP1R12B region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
1-202348855-G-A | not specified | Uncertain significance (Jun 28, 2024) | ||
1-202348883-G-C | Uncertain significance (Nov 01, 2024) | |||
1-202348904-G-A | not specified | Uncertain significance (Jun 18, 2024) | ||
1-202349029-G-T | not specified | Uncertain significance (Aug 20, 2024) | ||
1-202349078-A-G | not specified | Uncertain significance (Oct 14, 2023) | ||
1-202349108-C-T | not specified | Uncertain significance (Feb 16, 2023) | ||
1-202416836-G-C | not specified | Uncertain significance (Sep 14, 2023) | ||
1-202416875-C-T | not specified | Uncertain significance (Nov 14, 2024) | ||
1-202422630-A-C | not specified | Uncertain significance (Feb 06, 2023) | ||
1-202422658-A-G | not specified | Uncertain significance (Dec 27, 2022) | ||
1-202422665-A-T | not specified | Uncertain significance (Mar 21, 2023) | ||
1-202422702-A-G | not specified | Uncertain significance (May 20, 2024) | ||
1-202425569-T-C | not specified | Uncertain significance (Apr 05, 2023) | ||
1-202425602-A-G | not specified | Uncertain significance (May 17, 2023) | ||
1-202425647-T-C | not specified | Uncertain significance (Aug 04, 2023) | ||
1-202425655-G-C | not specified | Uncertain significance (Nov 13, 2024) | ||
1-202425698-C-T | not specified | Uncertain significance (Nov 21, 2022) | ||
1-202427074-CAGG-C | Uncertain significance (Sep 01, 2022) | |||
1-202427092-A-G | not specified | Uncertain significance (Jul 02, 2024) | ||
1-202427095-C-T | not specified | Uncertain significance (Jun 29, 2023) | ||
1-202427132-C-T | not specified | Uncertain significance (Aug 14, 2024) | ||
1-202427155-C-G | not specified | Uncertain significance (May 20, 2024) | ||
1-202428903-G-C | not specified | Uncertain significance (Nov 12, 2024) | ||
1-202430738-G-C | not specified | Uncertain significance (Aug 09, 2021) | ||
1-202430747-A-C | not specified | Uncertain significance (Jan 24, 2023) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
PPP1R12B | protein_coding | protein_coding | ENST00000608999 | 24 | 244008 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.000120 | 1.00 | 125690 | 0 | 58 | 125748 | 0.000231 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.972 | 476 | 540 | 0.882 | 0.0000285 | 6373 |
Missense in Polyphen | 143 | 180.81 | 0.79088 | 1994 | ||
Synonymous | 1.54 | 169 | 196 | 0.860 | 0.00000967 | 1932 |
Loss of Function | 4.77 | 18 | 56.8 | 0.317 | 0.00000309 | 656 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000512 | 0.000511 |
Ashkenazi Jewish | 0.0000992 | 0.0000992 |
East Asian | 0.000164 | 0.000163 |
Finnish | 0.000234 | 0.000231 |
European (Non-Finnish) | 0.000268 | 0.000264 |
Middle Eastern | 0.000164 | 0.000163 |
South Asian | 0.000173 | 0.000163 |
Other | 0.000165 | 0.000163 |
dbNSFP
Source:
- Function
- FUNCTION: Regulates myosin phosphatase activity. Augments Ca(2+) sensitivity of the contractile apparatus. {ECO:0000269|PubMed:11067852, ECO:0000269|PubMed:9570949}.;
- Pathway
- Focal adhesion - Homo sapiens (human);Oxytocin signaling pathway - Homo sapiens (human);Regulation of actin cytoskeleton - Homo sapiens (human);Vascular smooth muscle contraction - Homo sapiens (human);Proteoglycans in cancer - Homo sapiens (human);Focal Adhesion;Signal Transduction;integrin signaling pathway;ccr3 signaling in eosinophils;pkc-catalyzed phosphorylation of inhibitory phosphoprotein of myosin phosphatase;rho cell motility signaling pathway;thrombin signaling and protease-activated receptors;rac1 cell motility signaling pathway;RHO GTPases Activate ROCKs;RHO GTPases activate PAKs;RHO GTPases activate PKNs;RHO GTPases activate CIT;RHO GTPase Effectors;Signaling by Rho GTPases;Regulation of PLK1 Activity at G2/M Transition;G2/M Transition;Mitotic G2-G2/M phases;Cell Cycle;Cell Cycle, Mitotic
(Consensus)
Recessive Scores
- pRec
- 0.108
Intolerance Scores
- loftool
- 0.896
- rvis_EVS
- -0.86
- rvis_percentile_EVS
- 10.95
Haploinsufficiency Scores
- pHI
- 0.398
- hipred
- N
- hipred_score
- 0.444
- ghis
- 0.544
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.940
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Ppp1r12b
- Phenotype
Gene ontology
- Biological process
- regulation of muscle contraction;signal transduction;positive regulation of catalytic activity;negative regulation of catalytic activity
- Cellular component
- nucleoplasm;cytoplasm;cytosol;cytoskeleton;Z disc;A band
- Molecular function
- enzyme inhibitor activity;protein binding;enzyme activator activity;phosphatase regulator activity;protein kinase binding