YWHAB
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein beta, the group of 14-3-3 phospho-serine/phospho-threonine binding proteins
Basic information
Region (hg38): 20:44885702-44908532
Previous symbols: [ "YWHAA" ]
Links
Phenotypes
GenCC
Source:
No genCC data.
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 YWHAB 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 | 0 | |||||
| missense | 0 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 1 | 1 | ||||
| non coding | 0 | |||||
| Total | 0 | 0 | 0 | 0 | 0 |
Variants in YWHAB
This is a list of pathogenic ClinVar variants found in the YWHAB region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 20-44901841-G-A | Benign (Jan 31, 2018) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| YWHAB | protein_coding | protein_coding | ENST00000372839 | 5 | 22857 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.983 | 0.0168 | 125290 | 0 | 1 | 125291 | 0.00000399 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 1.89 | 75 | 137 | 0.546 | 0.00000737 | 1629 |
| Missense in Polyphen | 16 | 50.461 | 0.31708 | 621 | ||
| Synonymous | 0.324 | 48 | 50.9 | 0.942 | 0.00000288 | 440 |
| Loss of Function | 3.27 | 0 | 12.4 | 0.00 | 6.10e-7 | 150 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.00 | 0.00 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.00 | 0.00 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.0000327 | 0.0000327 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Adapter protein implicated in the regulation of a large spectrum of both general and specialized signaling pathways. Binds to a large number of partners, usually by recognition of a phosphoserine or phosphothreonine motif. Binding generally results in the modulation of the activity of the binding partner. Negative regulator of osteogenesis. Blocks the nuclear translocation of the phosphorylated form (by AKT1) of SRPK2 and antagonizes its stimulatory effect on cyclin D1 expression resulting in blockage of neuronal apoptosis elicited by SRPK2. Negative regulator of signaling cascades that mediate activation of MAP kinases via AKAP13. {ECO:0000269|PubMed:17717073, ECO:0000269|PubMed:19592491, ECO:0000269|PubMed:21224381}.;
- Pathway
- PI3K-Akt signaling pathway - Homo sapiens (human);Cell cycle - Homo sapiens (human);Oocyte meiosis - Homo sapiens (human);Hippo signaling pathway - Homo sapiens (human);Viral carcinogenesis - Homo sapiens (human);Hepatitis B - Homo sapiens (human);Epstein-Barr virus infection - Homo sapiens (human);WNT-Ncore;Cell Cycle;IL-3 Signaling Pathway;Myometrial Relaxation and Contraction Pathways;Calcium Regulation in the Cardiac Cell;Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways;MAP2K and MAPK activation;RAF activation;Disease;Signal Transduction;Gene expression (Transcription);Vesicle-mediated transport;Butyrate Response Factor 1 (BRF1) binds and destabilizes mRNA;Membrane Trafficking;Generic Transcription Pathway;Alpha6Beta4Integrin;Fas;Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex;RNA Polymerase II Transcription;mTORC1-mediated signalling;Activation of BAD and translocation to mitochondria ;G2/M DNA damage checkpoint;mTOR signalling;Activation of BH3-only proteins;Tristetraprolin (TTP, ZFP36) binds and destabilizes mRNA;Metabolism of RNA;G2/M Checkpoints;Intrinsic Pathway for Apoptosis;Cell Cycle Checkpoints;ARMS-mediated activation;Immune System;Apoptosis;Rap1 signalling;FGF;Programmed Cell Death;Adaptive Immune System;insulin Mam;TP53 Regulates Metabolic Genes;RHO GTPases activate PKNs;RHO GTPase Effectors;Signaling by Rho GTPases;Frs2-mediated activation;Prolonged ERK activation events;Signalling to ERKs;Signaling by NTRK1 (TRKA);Signaling by NTRKs;Signaling events mediated by HDAC Class II;ErbB1 downstream signaling;Negative regulation of MAPK pathway;RAF/MAP kinase cascade;MAPK1/MAPK3 signaling;MAPK family signaling cascades;MAP kinase cascade;IL3;a6b1 and a6b4 Integrin signaling;Transcriptional Regulation by TP53;Signaling by Hippo;Cell Cycle;Wnt;TNFalpha;Regulation of mRNA stability by proteins that bind AU-rich elements;Translocation of GLUT4 to the plasma membrane;Signaling by Receptor Tyrosine Kinases;Signaling by RAS mutants;Signaling by high-kinase activity BRAF mutants;Signaling by moderate kinase activity BRAF mutants;EGF;Paradoxical activation of RAF signaling by kinase inactive BRAF;Regulation of nuclear beta catenin signaling and target gene transcription;mTOR signaling pathway;Signaling by BRAF and RAF fusions;Oncogenic MAPK signaling;Diseases of signal transduction;Insulin-mediated glucose transport;p38 signaling mediated by MAPKAP kinases;FoxO family signaling;Role of Calcineurin-dependent NFAT signaling in lymphocytes;Class I PI3K signaling events mediated by Akt;Trk receptor signaling mediated by PI3K and PLC-gamma;PDGFR-beta signaling pathway;ATM pathway;ATR signaling pathway;LKB1 signaling events;insulin
(Consensus)
Recessive Scores
- pRec
- 0.707
Intolerance Scores
- loftool
- 0.176
- rvis_EVS
- 0.1
- rvis_percentile_EVS
- 61.28
Haploinsufficiency Scores
- pHI
- 0.981
- hipred
- Y
- hipred_score
- 0.825
- ghis
- 0.509
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.757
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Ywhab
- Phenotype
Zebrafish Information Network
- Gene name
- ywhaba
- Affected structure
- phagocytosis, engulfment
- Phenotype tag
- abnormal
- Phenotype quality
- decreased occurrence
Gene ontology
- Biological process
- MAPK cascade;protein targeting;viral process;negative regulation of protein dephosphorylation;hippo signaling;positive regulation of catalytic activity;regulation of mRNA stability;negative regulation of G protein-coupled receptor signaling pathway;negative regulation of transcription, DNA-templated;cytoplasmic sequestering of protein;protein heterooligomerization;membrane organization;positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway
- Cellular component
- nucleus;cytoplasm;mitochondrion;cytosol;focal adhesion;membrane;transcriptional repressor complex;melanosome;perinuclear region of cytoplasm;extracellular exosome
- Molecular function
- protein binding;protein C-terminus binding;enzyme binding;protein domain specific binding;identical protein binding;histone deacetylase binding;protein-containing complex binding;cadherin binding;phosphoserine residue binding;phosphoprotein binding