|
mutLBSgeneDB |
| |
| |
| |
| |
| |
| |
|
| Gene summary for YWHAQ |
 Gene summary |
| Basic gene Info. | Gene symbol | YWHAQ |
| Gene name | tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta | |
| Synonyms | 14-3-3|1C5|HS1 | |
| Cytomap | UCSC genome browser: 2p25.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_006826.3, | |
| Description | 14-3-3 protein T-cell14-3-3 protein tau14-3-3 protein thetatyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 609009 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000134308 | ||
| HPRD : 00886 | ||
| Vega : OTTHUMG00000013848 | ||
| Protein | UniProt: P27348 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_YWHAQ | |
| BioGPS: 10971 | ||
| Pathway | NCI Pathway Interaction Database: YWHAQ | |
| KEGG: YWHAQ | ||
| REACTOME: YWHAQ | ||
| Pathway Commons: YWHAQ | ||
| Context | iHOP: YWHAQ | |
| ligand binding site mutation search in PubMed: YWHAQ | ||
| UCL Cancer Institute: YWHAQ | ||
| 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:0045892 | negative regulation of transcription, DNA-templated | 15163635 |
| Top |
| Ligand binding site mutations for YWHAQ |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | R56 | S57F | LUAD | 1 | N224 | N224S | 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. |
| Top |
| Protein structure related information for YWHAQ |
| 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 |
 |
| 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 | N224 | N224S | -1.1254449 | R56 | S57F | -0.27030061 |
| (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 YWHAQ from PDB |
| Top |
| Differential gene expression and gene-gene network for YWHAQ |
| 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) |
| Top |
| Top |
| Phenotype information for YWHAQ |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0029408 | Osteoarthritis | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
| Top |
| Pharmacological information for YWHAQ |
| 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. |
 |
| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
 |
| Ligands binding to mutated ligand binding site of YWHAQ go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | III | Peptide ligand (ARG,GLN,ARG,SER,ALA,PRO) | 2btp | A | R56 N224 | III | Peptide ligand (ARG,GLN,ARG,SER,ALA,PRO) | 2btp | B | R56 N224 |
| Top |
| Conservation information for LBS of YWHAQ |
| Multiple alignments for P27348 in multiple species |
| LBS | AA sequence | # species | Species | E180 | SVFYYEILNNP | 5 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus | K120 | KVFYLKMKGDY | 5 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus | K49 | LSVAYKNVVGG | 5 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus | L172 | RLGLALNFSVF | 5 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus | L220 | TLIMQLLRDNL | 5 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus | L227 | RDNLTLWTSDS | 5 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus | N173 | LGLALNFSVFY | 5 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus | N224 | QLLRDNLTLWT | 5 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus | R127 | KGDYFRYLAEV | 5 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus | R56 | VVGGRRSAWRV | 5 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus | V176 | ALNFSVFYYEI | 5 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus | Y128 | GDYFRYLAEVA | 5 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus | Y179 | FSVFYYEILNN | 5 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus |
 |
Copyright © 2016-Present - The University of Texas Health Science Center at Houston |