YWHAH
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein eta, the group of 14-3-3 phospho-serine/phospho-threonine binding proteins
Basic information
Region (hg38): 22:31944521-31957603
Previous symbols: [ "YWHA1" ]
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 YWHAH 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 YWHAH
This is a list of pathogenic ClinVar variants found in the YWHAH region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 22-31944744-G-A | not specified | Uncertain significance (Jan 17, 2023) | ||
| 22-31956260-C-T | not specified | Uncertain significance (Feb 17, 2024) | ||
| 22-31956659-A-C | not specified | Uncertain significance (Jun 22, 2021) | ||
| 22-31956731-G-A | not specified | Uncertain significance (Dec 15, 2022) | ||
| 22-31956752-C-T | not specified | Uncertain significance (Jan 31, 2023) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| YWHAH | protein_coding | protein_coding | ENST00000248975 | 2 | 13144 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.784 | 0.215 | 125741 | 0 | 4 | 125745 | 0.0000159 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 2.56 | 45 | 126 | 0.357 | 0.00000693 | 1618 |
| Missense in Polyphen | 8 | 55.881 | 0.14316 | 671 | ||
| Synonymous | -1.09 | 62 | 52.0 | 1.19 | 0.00000300 | 458 |
| Loss of Function | 2.54 | 1 | 9.42 | 0.106 | 6.35e-7 | 107 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.0000616 | 0.0000615 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.0000264 | 0.0000264 |
| 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);Viral carcinogenesis - Homo sapiens (human);Epstein-Barr virus infection - Homo sapiens (human);Cell Cycle;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;regulation of pgc-1a;akt signaling pathway;cdc25 and chk1 regulatory pathway in response to dna damage;signal dependent regulation of myogenesis by corepressor mitr;regulation of bad phosphorylation;multiple antiapoptotic pathways from igf-1r signaling lead to bad phosphorylation;nfat and hypertrophy of the heart ;Membrane Trafficking;regulation of cell cycle progression by plk3;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;Cell Cycle Checkpoints;Apoptosis;FGF;Programmed Cell Death;insulin Mam;TP53 Regulates Metabolic Genes;RHO GTPases activate PKNs;cell cycle: g2/m checkpoint;RHO GTPase Effectors;Signaling by Rho GTPases;role of nicotinic acetylcholine receptors in the regulation of apoptosis;control of skeletal myogenesis by hdac and calcium/calmodulin-dependent kinase (camk);ErbB1 downstream signaling;rb tumor suppressor/checkpoint signaling in response to dna damage;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
- 0.546
Intolerance Scores
- loftool
- 0.106
- rvis_EVS
- -0.08
- rvis_percentile_EVS
- 47.79
Haploinsufficiency Scores
- pHI
- 0.850
- hipred
- Y
- hipred_score
- 0.800
- ghis
- 0.670
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.973
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Low | Low | Low |
| Primary Immunodeficiency | Medium | Low | Medium |
| Cancer | Low | Low | Low |
Mouse Genome Informatics
- Gene name
- Ywhah
- Phenotype
Gene ontology
- Biological process
- regulation of sodium ion transport;glucocorticoid catabolic process;intracellular protein transport;substantia nigra development;glucocorticoid receptor signaling pathway;regulation of neuron differentiation;positive regulation of transcription, DNA-templated;regulation of synaptic plasticity;negative regulation of dendrite morphogenesis;membrane organization;membrane depolarization during action potential;positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway;regulation of sodium ion transmembrane transporter activity
- Cellular component
- cytoplasm;mitochondrion;cytosol;plasma membrane;intercalated disc;extracellular exosome;presynapse;glutamatergic synapse
- Molecular function
- actin binding;insulin-like growth factor receptor binding;protein binding;sodium channel regulator activity;enzyme binding;protein domain specific binding;glucocorticoid receptor binding;identical protein binding;ion channel binding;protein heterodimerization activity