YWHAQ
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein theta, the group of 14-3-3 phospho-serine/phospho-threonine binding proteins
Basic information
Region (hg38): 2:9583966-9630997
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- Inborn genetic diseases (4 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the YWHAQ 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 | 4 | |||||
| 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 | 0 |
Variants in YWHAQ
This is a list of pathogenic ClinVar variants found in the YWHAQ region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 2-9585329-C-G | not specified | Uncertain significance (Oct 12, 2022) | ||
| 2-9588247-C-T | not specified | Uncertain significance (Dec 19, 2023) | ||
| 2-9588251-T-C | not specified | Uncertain significance (Jan 26, 2022) | ||
| 2-9630178-G-T | not specified | Uncertain significance (Feb 21, 2024) | ||
| 2-9630205-C-G | not specified | Uncertain significance (Dec 27, 2022) | ||
| 2-9630379-C-T | not specified | Uncertain significance (Jan 18, 2022) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| YWHAQ | protein_coding | protein_coding | ENST00000381844 | 5 | 47043 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.698 | 0.302 | 125655 | 0 | 3 | 125658 | 0.0000119 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 1.67 | 84 | 139 | 0.602 | 0.00000686 | 1608 |
| Missense in Polyphen | 19 | 37.525 | 0.50632 | 468 | ||
| Synonymous | -0.625 | 62 | 56.0 | 1.11 | 0.00000286 | 455 |
| Loss of Function | 2.77 | 2 | 12.6 | 0.159 | 7.29e-7 | 141 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.0000291 | 0.0000291 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.0000463 | 0.0000463 |
| European (Non-Finnish) | 0.00000881 | 0.00000880 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.00 | 0.00 |
| 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. Negatively regulates the kinase activity of PDPK1. {ECO:0000269|PubMed:12177059}.;
- Pathway
- PI3K-Akt signaling pathway - Homo sapiens (human);Cell cycle - Homo sapiens (human);Oocyte meiosis - Homo sapiens (human);Hippo signaling pathway - Homo sapiens (human);Pathogenic Escherichia coli infection - Homo sapiens (human);Viral carcinogenesis - Homo sapiens (human);Hepatitis B - Homo sapiens (human);Epstein-Barr virus infection - Homo sapiens (human);Cell Cycle;miR-targeted genes in epithelium - TarBase;miR-targeted genes in leukocytes - TarBase;miR-targeted genes in lymphocytes - TarBase;miR-targeted genes in muscle cell - TarBase;miR-targeted genes in squamous cell - TarBase;Pathogenic Escherichia coli infection;Primary Focal Segmental Glomerulosclerosis FSGS;IL-3 Signaling Pathway;Myometrial Relaxation and Contraction Pathways;Calcium Regulation in the Cardiac Cell;Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways;Signal Transduction;Gene expression (Transcription);Vesicle-mediated transport;Membrane Trafficking;Generic Transcription Pathway;Alpha6Beta4Integrin;Fas;Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex;RNA Polymerase II Transcription;Activation of BAD and translocation to mitochondria ;G2/M DNA damage checkpoint;Activation of BH3-only proteins;G2/M Checkpoints;Intrinsic Pathway for Apoptosis;TCR;Cell Cycle Checkpoints;Apoptosis;FGF;Programmed Cell Death;insulin Mam;TP53 Regulates Metabolic Genes;RHO GTPases activate PKNs;IL-7 signaling;RHO GTPase Effectors;Signaling by Rho GTPases;ErbB1 downstream signaling;Validated transcriptional targets of TAp63 isoforms;EPO signaling;a6b1 and a6b4 Integrin signaling;Transcriptional Regulation by TP53;Cell Cycle;TNFalpha;Translocation of GLUT4 to the plasma membrane;EGF;Regulation of nuclear beta catenin signaling and target gene transcription;mTOR signaling pathway;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;LKB1 signaling events;insulin
(Consensus)
Recessive Scores
- pRec
- 0.608
Intolerance Scores
- loftool
- 0.145
- rvis_EVS
- -0.08
- rvis_percentile_EVS
- 47.79
Haploinsufficiency Scores
- pHI
- 0.981
- hipred
- Y
- hipred_score
- 0.825
- ghis
- 0.687
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.682
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Low | Low |
| Primary Immunodeficiency | Medium | Low | Medium |
| Cancer | Medium | Low | Medium |
Mouse Genome Informatics
- Gene name
- Ywhaq
- Phenotype
- growth/size/body region phenotype; muscle phenotype; homeostasis/metabolism phenotype; cellular phenotype; embryo phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span);
Gene ontology
- Biological process
- substantia nigra development;negative regulation of ion transmembrane transport;negative regulation of transcription, DNA-templated;membrane organization;positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway
- Cellular component
- cytoplasm;mitochondrion;cytosol;focal adhesion;membrane;protein-containing complex;synapse;extracellular exosome
- Molecular function
- protein binding;protein C-terminus binding;protein domain specific binding;identical protein binding;ion channel binding;protein N-terminus binding;14-3-3 protein binding