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mutLBSgeneDB |
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| Gene summary for DDX3X |
 Gene summary |
| Basic gene Info. | Gene symbol | DDX3X |
| Gene name | DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked | |
| Synonyms | CAP-Rf|DBX|DDX14|DDX3|HLP2 | |
| Cytomap | UCSC genome browser: Xp11.3-p11.23 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001193416.2, NM_001193417.2,NM_001356.4,NR_126093.1,NR_126094.1, NM_024005.1, | |
| Description | ATP-dependent RNA helicase DDX3XDEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linkedDEAD box protein 3, X-chromosomalDEAD box, X isoformDEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3DEAD/H box-3helicase-like protein 2 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 300160 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000215301 | ||
| HPRD : 02154 | ||
| Vega : OTTHUMG00000021369 | ||
| Protein | UniProt: O00571 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_DDX3X | |
| BioGPS: 1654 | ||
| Pathway | NCI Pathway Interaction Database: DDX3X | |
| KEGG: DDX3X | ||
| REACTOME: DDX3X | ||
| Pathway Commons: DDX3X | ||
| Context | iHOP: DDX3X | |
| ligand binding site mutation search in PubMed: DDX3X | ||
| UCL Cancer Institute: DDX3X | ||
| 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:0006200 | ATP catabolic process | 21589879 | GO:0009615 | response to virus | 18636090 | GO:0010501 | RNA secondary structure unwinding | 22872150 | GO:0030308 | negative regulation of cell growth | 16818630 | GO:0031333 | negative regulation of protein complex assembly | 17667941 | GO:0032508 | DNA duplex unwinding | 21589879 | GO:0034063 | stress granule assembly | 21883093 | GO:0035556 | intracellular signal transduction | 18636090 | GO:0045727 | positive regulation of translation | 18596238 | GO:0045944 | positive regulation of transcription from RNA polymerase II promoter | 16818630 | GO:0071243 | cellular response to arsenic-containing substance | 21883093 | GO:0071470 | cellular response to osmotic stress | 21883093 |
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| Ligand binding site mutations for DDX3X |
| 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 | E348 | D350N | BRCA | 1 | F182 | E180Q | KIRC | 1 | Y200 | Y200S | SKCM | 1 | Q207 | K208N | UCEC | 1 | Y200 | R199P | UCEC | 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 DDX3X |
| 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 | F182 | E180Q | -1.3037271 | Y200 | R199P | -1.2773673 | Q207 | K208N | -1.2672936 | Y200 | Y200S | -0.98261543 | E348 | D350N | -0.68040815 |
| (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 DDX3X from PDB |
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| Differential gene expression and gene-gene network for DDX3X |
| 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 DDX3X |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0017661 | Glomerulonephritis, IGA | 1 | Biomarker |
| umls:C0029408 | Osteoarthritis | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for DDX3X |
| 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 DDX3X go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | AMP | AMP | 2i4i | A | F182 Y200 Q207 | ADP | ADP | 4px9 | C | F182 Y200 Q207 | ADP | ADP | 4px9 | A | Y200 Q207 | ADP | ADP | 4px9 | B | Y200 Q207 | ADP | ADP | 4pxa | A | Y200 Q207 | AMP | AMP | 5e7j | A | Y200 Q207 | ANP | AMP-PNP | 5e7m | A | Y200 Q207 E348 |
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| Conservation information for LBS of DDX3X |
| Multiple alignments for O00571 in multiple species |
| LBS | AA sequence | # species | Species | E348 | FLALDEADRML | 3 | Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana | E348 | YLVLDEADRML | 2 | Homo sapiens, Mus musculus | E348 | YLALDEADRML | 2 | Oryza sativa subsp. japonica, Oryza sativa subsp. japonica | E348 | FLVLDEADRML | 1 | Drosophila melanogaster | F182 | PPVNTFAEIDL | 3 | Oryza sativa subsp. japonica, Arabidopsis thaliana, Arabidopsis thaliana | F182 | PHIESFSDVEM | 2 | Homo sapiens, Mus musculus | F182 | PPANTFAEIDL | 1 | Oryza sativa subsp. japonica | F182 | PPVNTFADIDL | 1 | Arabidopsis thaliana | F182 | PNITSFDDVQL | 1 | Drosophila melanogaster | G227 | ACAQTGSGKTA | 8 | Homo sapiens, Oryza sativa subsp. japonica, Oryza sativa subsp. japonica, Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana, Drosophila melanogaster, Mus musculus | G229 | AQTGSGKTAAF | 8 | Homo sapiens, Oryza sativa subsp. japonica, Oryza sativa subsp. japonica, Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana, Drosophila melanogaster, Mus musculus | I158 | GGNTGINFEKY | 2 | Homo sapiens, Mus musculus | I158 | GENTGINFEAY | 1 | Oryza sativa subsp. japonica | I158 | TANTGINFDAY | 1 | Oryza sativa subsp. japonica | I158 | QENTVINFEAY | 1 | Arabidopsis thaliana | I158 | QENTGINFDAY | 1 | Arabidopsis thaliana | I158 | QDNTVINFDAY | 1 | Arabidopsis thaliana | I158 | VGNTGINFDKY | 1 | Drosophila melanogaster | K230 | QTGSGKTAAFC | 5 | Oryza sativa subsp. japonica, Oryza sativa subsp. japonica, Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana | K230 | QTGSGKTAAFL | 3 | Homo sapiens, Drosophila melanogaster, Mus musculus | L278 | APTRELAVQIY | 2 | Homo sapiens, Mus musculus | L278 | SPTRELSVQIH | 2 | Oryza sativa subsp. japonica, Oryza sativa subsp. japonica | L278 | SPTRELACQIH | 2 | Arabidopsis thaliana, Arabidopsis thaliana | L278 | SPTRELASQIH | 1 | Arabidopsis thaliana | L278 | APTRELATQIF | 1 | Drosophila melanogaster | P203 | CKYVKPTPVQR | 4 | Oryza sativa subsp. japonica, Oryza sativa subsp. japonica, Arabidopsis thaliana, Arabidopsis thaliana | P203 | TRYTRPTPVQK | 2 | Homo sapiens, Mus musculus | P203 | CKYVRPTPVQR | 1 | Arabidopsis thaliana | P203 | ARYDKPTPVQK | 1 | Drosophila melanogaster | Q207 | RPTPVQKHAIP | 2 | Homo sapiens, Mus musculus | Q207 | KPTPVQRYAIP | 2 | Oryza sativa subsp. japonica, Oryza sativa subsp. japonica | Q207 | KPTPVQRNAIP | 1 | Arabidopsis thaliana | Q207 | RPTPVQRHAIP | 1 | Arabidopsis thaliana | Q207 | KPTPVQRHAIP | 1 | Arabidopsis thaliana | Q207 | KPTPVQKHAIP | 1 | Drosophila melanogaster | Q281 | RELAVQIYEEA | 2 | Homo sapiens, Mus musculus | Q281 | RELSVQIHEEA | 2 | Oryza sativa subsp. japonica, Oryza sativa subsp. japonica | Q281 | RELACQIHDEA | 2 | Arabidopsis thaliana, Arabidopsis thaliana | Q281 | RELASQIHDEA | 1 | Arabidopsis thaliana | Q281 | RELATQIFEEA | 1 | Drosophila melanogaster | R202 | RCKYVKPTPVQ | 4 | Oryza sativa subsp. japonica, Oryza sativa subsp. japonica, Arabidopsis thaliana, Arabidopsis thaliana | R202 | LTRYTRPTPVQ | 2 | Homo sapiens, Mus musculus | R202 | RCKYVRPTPVQ | 1 | Arabidopsis thaliana | R202 | LARYDKPTPVQ | 1 | Drosophila melanogaster | S228 | CAQTGSGKTAA | 8 | Homo sapiens, Oryza sativa subsp. japonica, Oryza sativa subsp. japonica, Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana, Drosophila melanogaster, Mus musculus | T156 | FSGGNTGINFE | 2 | Homo sapiens, Mus musculus | T156 | FEGENTGINFE | 1 | Oryza sativa subsp. japonica | T156 | FDTANTGINFD | 1 | Oryza sativa subsp. japonica | T156 | NEQENTVINFE | 1 | Arabidopsis thaliana | T156 | TEQENTGINFD | 1 | Arabidopsis thaliana | T156 | TEQDNTVINFD | 1 | Arabidopsis thaliana | T156 | FGVGNTGINFD | 1 | Drosophila melanogaster | T204 | RYTRPTPVQKH | 2 | Homo sapiens, Mus musculus | T204 | KYVKPTPVQRY | 2 | Oryza sativa subsp. japonica, Oryza sativa subsp. japonica | T204 | KYVKPTPVQRN | 1 | Arabidopsis thaliana | T204 | KYVRPTPVQRH | 1 | Arabidopsis thaliana | T204 | KYVKPTPVQRH | 1 | Arabidopsis thaliana | T204 | RYDKPTPVQKH | 1 | Drosophila melanogaster | T226 | MACAQTGSGKT | 8 | Homo sapiens, Oryza sativa subsp. japonica, Oryza sativa subsp. japonica, Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana, Drosophila melanogaster, Mus musculus | T231 | TGSGKTAAFCF | 5 | Oryza sativa subsp. japonica, Oryza sativa subsp. japonica, Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana | T231 | TGSGKTAAFLL | 2 | Homo sapiens, Mus musculus | T231 | TGSGKTAAFLV | 1 | Drosophila melanogaster | Y200 | IRRCKYVKPTP | 3 | Oryza sativa subsp. japonica, Oryza sativa subsp. japonica, Arabidopsis thaliana | Y200 | IELTRYTRPTP | 2 | Homo sapiens, Mus musculus | Y200 | IQRCKYVKPTP | 1 | Arabidopsis thaliana | Y200 | IRRCKYVRPTP | 1 | Arabidopsis thaliana | Y200 | VALARYDKPTP | 1 | Drosophila melanogaster |
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