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mutLBSgeneDB |
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| Gene summary for DAXX |
 Gene summary |
| Basic gene Info. | Gene symbol | DAXX |
| Gene name | death-domain associated protein | |
| Synonyms | BING2|DAP6|EAP1 | |
| Cytomap | UCSC genome browser: 6p21.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001141969.1, NM_001141970.1,NM_001254717.1,NM_001350.4, | |
| Description | CENP-C binding proteinETS1-associated protein 1Fas-binding proteindeath domain-associated protein 6death-associated protein 6fas death domain-associated protein | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 603186 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000204209 | ||
| HPRD : 04424 | ||
| Vega : OTTHUMG00000031203 | ||
| Protein | UniProt: Q9UER7 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_DAXX | |
| BioGPS: 1616 | ||
| Pathway | NCI Pathway Interaction Database: DAXX | |
| KEGG: DAXX | ||
| REACTOME: DAXX | ||
| Pathway Commons: DAXX | ||
| Context | iHOP: DAXX | |
| ligand binding site mutation search in PubMed: DAXX | ||
| UCL Cancer Institute: DAXX | ||
| Assigned class in mutLBSgeneDB | B: This gene belongs to targetable_mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0006334 | nucleosome assembly | 20504901 | GO:0006338 | chromatin remodeling | 20651253 | GO:0006355 | regulation of transcription, DNA-templated | 15878163 | GO:0030521 | androgen receptor signaling pathway | 15572661 | GO:0031396 | regulation of protein ubiquitination | 18566590 | GO:0045892 | negative regulation of transcription, DNA-templated | 10698492 |
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| Ligand binding site mutations for DAXX |
| Lollipop-style diagram of mutations at LBS in amino-acid sequence. We represented ligand binding site mutations only. (You can see big image via clicking.)  : non-synonymous mutation on LBS, Circle size denotes number of samples. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | M369 | R371W | LAML | 1 | I127 | I127V | LUAD | 1 | F87 | F87Y | SKCM | 1 | P258 | R256H | STAD | 1 | R263 | R263L | 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 DAXX |
| 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 | P258 | R256H | -1.0699721 | I127 | I127V | -0.89325319 | F87 | F87Y | -0.85530768 | M369 | R371W | -0.40066051 | R263 | R263L | -0.17458187 |
| (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 DAXX from PDB |
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| Differential gene expression and gene-gene network for DAXX |
| 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 DAXX |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0206754 | Neuroendocrine Tumors | 2 | Biomarker |
| umls:C0030297 | Pancreatic Neoplasms | 2 | Biomarker |
| umls:C0206686 | Adrenocortical Carcinoma | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for DAXX |
| 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 DAXX go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | III | Peptide ligand (GLY,SER,GLN,GLU,ASP,SER,ASP,SER,GLU,LEU,GLU,GLN,TYR,PHE,THR,ALA,ARG,TRP) | 2kzu | A | F87 I127 | PC4 | CHLOROPLATINITE | 4hga | A | M369 | PC4 | CHLOROPLATINITE | 4hga | A | P258 | PC4 | CHLOROPLATINITE | 4hga | A | R263 |
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| Conservation information for LBS of DAXX |
| Multiple alignments for Q9UER7 in multiple species |
| LBS | AA sequence | # species | Species |
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