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mutLBSgeneDB |
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| Gene summary for YWHAH |
 Gene summary |
| Basic gene Info. | Gene symbol | YWHAH |
| Gene name | tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta | |
| Synonyms | YWHA1 | |
| Cytomap | UCSC genome browser: 22q12.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_003405.3, | |
| Description | 14-3-3 eta14-3-3 protein etatyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 113508 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000128245 | ||
| HPRD : 00215 | ||
| Vega : OTTHUMG00000030833 | ||
| Protein | UniProt: Q04917 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_YWHAH | |
| BioGPS: 7533 | ||
| Pathway | NCI Pathway Interaction Database: YWHAH | |
| KEGG: YWHAH | ||
| REACTOME: YWHAH | ||
| Pathway Commons: YWHAH | ||
| Context | iHOP: YWHAH | |
| ligand binding site mutation search in PubMed: YWHAH | ||
| UCL Cancer Institute: YWHAH | ||
| Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0002028 | regulation of sodium ion transport | 16728661 | GO:0006713 | glucocorticoid catabolic process | 15790729 | GO:0042921 | glucocorticoid receptor signaling pathway | 15790729 | GO:0045893 | positive regulation of transcription, DNA-templated | 15790729 | GO:0086010 | membrane depolarization during action potential | 16728661 | GO:2000649 | regulation of sodium ion transmembrane transporter activity | 16728661 |
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| Ligand binding site mutations for YWHAH |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | R57 | R57L | COAD | 1 | R57 | R57Q | COAD | 1 | V181 | V181M | COAD | 1 | Y133 | Y133D | STAD | 1 |
| cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
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| Protein structure related information for YWHAH |
| Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
 : nsSNV at non-LBS : nsSNV at LBS |
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| nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
| LBS | AAchange of nsSNV | Relative stability change | Y133 | Y133D | -0.93320864 | R57 | R57Q | -0.74102038 | V181 | V181M | -0.62779976 | R57 | R57L | -0.1502898 |
| (MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
| Structure image for YWHAH from PDB |
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| Differential gene expression and gene-gene network for YWHAH |
| Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
| Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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| Phenotype information for YWHAH |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0878544 | Cardiomyopathies | 1 | Therapeutic |
| umls:C0011853 | Diabetes Mellitus, Experimental | 1 | Therapeutic |
| umls:C0017661 | Glomerulonephritis, IGA | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for YWHAH |
| Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of YWHAH go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | III | Peptide ligand (GLN,ARG,SER,ALA,PRO) | 2c74 | A | R57 Y133 | III | Peptide ligand (GLN,ARG,SER,ALA,PRO) | 2c74 | B | R57 Y133 | III | Peptide ligand (ILE,SER,LEU,PRO) | 2c63 | A | R57 Y133 V181 | III | Peptide ligand (ILE,SER,LEU,PRO) | 2c63 | B | R57 Y133 V181 | III | Peptide ligand (ILE,SER,LEU,PRO) | 2c63 | C | R57 Y133 V181 | III | Peptide ligand (ILE,SER,LEU,PRO) | 2c63 | D | R57 Y133 V181 |
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| Conservation information for LBS of YWHAH |
| Multiple alignments for Q04917 in multiple species |
| LBS | AA sequence | # species | Species | I222 | KDSTLIMQLLR | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | K50 | LSVAYKNVVGA | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | L177 | RLGLALNFSVF | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | L225 | TLIMQLLRDNL | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | L232 | RDNLTLWTSDQ | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | N178 | LGLALNFSVFY | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | N229 | QLLRDNLTLWT | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | R132 | KGDYYRYLAEV | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | R57 | VVGARRSSWRV | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | V181 | ALNFSVFYYEI | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | Y133 | GDYYRYLAEVA | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus |
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