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Gene: DDX49 |
Gene summary for DDX49 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | DDX49 | Gene ID | 54555 |
| Gene name | DEAD-box helicase 49 | |
| Gene Alias | Dbp8 | |
| Cytomap | 19p13.11 | |
| Gene Type | protein-coding | GO ID | GO:0001558 | UniProtAcc | Q9Y6V7 |
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Malignant transformation analysis |
| Identification of the aberrant gene expression in precancerous and cancerous lesions by comparing the gene expression of stem-like cells in diseased tissues with normal stem cells |
| Malignant transformation involving gene list. |
| Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
| 54555 | DDX49 | LZE4T | Human | Esophagus | ESCC | 7.08e-05 | 2.76e-01 | 0.0811 |
| 54555 | DDX49 | LZE7T | Human | Esophagus | ESCC | 1.13e-18 | 8.85e-01 | 0.0667 |
| 54555 | DDX49 | LZE8T | Human | Esophagus | ESCC | 1.71e-02 | 1.39e-01 | 0.067 |
| 54555 | DDX49 | LZE20T | Human | Esophagus | ESCC | 5.15e-06 | 2.31e-01 | 0.0662 |
| 54555 | DDX49 | LZE22D1 | Human | Esophagus | HGIN | 1.68e-03 | 1.69e-01 | 0.0595 |
| 54555 | DDX49 | LZE24T | Human | Esophagus | ESCC | 2.71e-15 | 4.72e-01 | 0.0596 |
| 54555 | DDX49 | LZE21T | Human | Esophagus | ESCC | 1.46e-06 | 3.99e-01 | 0.0655 |
| 54555 | DDX49 | LZE6T | Human | Esophagus | ESCC | 5.19e-05 | 3.04e-01 | 0.0845 |
| 54555 | DDX49 | P1T-E | Human | Esophagus | ESCC | 9.17e-13 | 5.05e-01 | 0.0875 |
| 54555 | DDX49 | P2T-E | Human | Esophagus | ESCC | 3.61e-20 | 3.65e-01 | 0.1177 |
| 54555 | DDX49 | P4T-E | Human | Esophagus | ESCC | 5.05e-20 | 5.98e-01 | 0.1323 |
| 54555 | DDX49 | P5T-E | Human | Esophagus | ESCC | 3.20e-25 | 5.50e-01 | 0.1327 |
| 54555 | DDX49 | P8T-E | Human | Esophagus | ESCC | 6.42e-34 | 7.25e-01 | 0.0889 |
| 54555 | DDX49 | P9T-E | Human | Esophagus | ESCC | 3.54e-28 | 5.51e-01 | 0.1131 |
| 54555 | DDX49 | P10T-E | Human | Esophagus | ESCC | 2.55e-44 | 7.87e-01 | 0.116 |
| 54555 | DDX49 | P11T-E | Human | Esophagus | ESCC | 3.14e-18 | 6.86e-01 | 0.1426 |
| 54555 | DDX49 | P12T-E | Human | Esophagus | ESCC | 2.11e-23 | 4.27e-01 | 0.1122 |
| 54555 | DDX49 | P15T-E | Human | Esophagus | ESCC | 2.12e-21 | 4.35e-01 | 0.1149 |
| 54555 | DDX49 | P16T-E | Human | Esophagus | ESCC | 9.75e-19 | 3.86e-01 | 0.1153 |
| 54555 | DDX49 | P17T-E | Human | Esophagus | ESCC | 1.50e-17 | 7.83e-01 | 0.1278 |
| Page: 1 2 3 4 5 6 |
| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Esophagus |  | ESCC: Esophageal squamous cell carcinoma |
| HGIN: High-grade intraepithelial neoplasias | ||
| LGIN: Low-grade intraepithelial neoplasias | ||
| Liver |  | HCC: Hepatocellular carcinoma |
| NAFLD: Non-alcoholic fatty liver disease | ||
| Oral Cavity |  | EOLP: Erosive Oral lichen planus |
| LP: leukoplakia | ||
| NEOLP: Non-erosive oral lichen planus | ||
| OSCC: Oral squamous cell carcinoma | ||
| Skin |  | AK: Actinic keratosis |
| cSCC: Cutaneous squamous cell carcinoma | ||
| SCCIS:squamous cell carcinoma in situ | ||
| Thyroid |  | ATC: Anaplastic thyroid cancer |
| HT: Hashimoto's thyroiditis | ||
| PTC: Papillary thyroid cancer |
| ∗log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage. |
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Malignant transformation related pathway analysis |
| Find out the enriched GO biological processes and KEGG pathways involved in transition from healthy to precancer to cancer |
| Figure of enriched GO biological processes. |
| Tissue | Disease Stage | Enriched GO biological Processes |
| Colorectum | AD |  |
| Colorectum | SER |  |
| Colorectum | MSS |  |
| Colorectum | MSI-H |  |
| Colorectum | FAP |  |
| ∗Top 15 enriched GO BP terms are showed in the bar plot of each disease state in each tissue. Each row represents a significant GO biological process which is colored according to the -log10(p.adjust). |
| Page: 1 2 3 4 5 6 7 8 9 |
| Enriched GO biological processes. |
| GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
| GO:002261327 | Esophagus | HGIN | ribonucleoprotein complex biogenesis | 158/2587 | 463/18723 | 2.61e-29 | 5.23e-26 | 158 |
| GO:004225426 | Esophagus | HGIN | ribosome biogenesis | 101/2587 | 299/18723 | 8.74e-19 | 4.03e-16 | 101 |
| GO:001607219 | Esophagus | HGIN | rRNA metabolic process | 72/2587 | 236/18723 | 2.26e-11 | 2.56e-09 | 72 |
| GO:000636419 | Esophagus | HGIN | rRNA processing | 69/2587 | 225/18723 | 4.53e-11 | 5.04e-09 | 69 |
| GO:000640120 | Esophagus | HGIN | RNA catabolic process | 77/2587 | 278/18723 | 7.63e-10 | 6.36e-08 | 77 |
| GO:003447010 | Esophagus | HGIN | ncRNA processing | 97/2587 | 395/18723 | 5.92e-09 | 3.90e-07 | 97 |
| GO:003465519 | Esophagus | HGIN | nucleobase-containing compound catabolic process | 98/2587 | 407/18723 | 1.44e-08 | 8.94e-07 | 98 |
| GO:004670017 | Esophagus | HGIN | heterocycle catabolic process | 103/2587 | 445/18723 | 5.44e-08 | 2.99e-06 | 103 |
| GO:004427018 | Esophagus | HGIN | cellular nitrogen compound catabolic process | 103/2587 | 451/18723 | 1.10e-07 | 5.56e-06 | 103 |
| GO:001943917 | Esophagus | HGIN | aromatic compound catabolic process | 105/2587 | 467/18723 | 1.89e-07 | 9.31e-06 | 105 |
| GO:190136117 | Esophagus | HGIN | organic cyclic compound catabolic process | 106/2587 | 495/18723 | 1.94e-06 | 7.13e-05 | 106 |
| GO:00346606 | Esophagus | HGIN | ncRNA metabolic process | 104/2587 | 485/18723 | 2.26e-06 | 8.23e-05 | 104 |
| GO:001604919 | Esophagus | HGIN | cell growth | 93/2587 | 482/18723 | 4.49e-04 | 6.62e-03 | 93 |
| GO:004348718 | Esophagus | HGIN | regulation of RNA stability | 39/2587 | 170/18723 | 8.42e-04 | 1.09e-02 | 39 |
| GO:000155818 | Esophagus | HGIN | regulation of cell growth | 76/2587 | 414/18723 | 5.40e-03 | 4.42e-02 | 76 |
| GO:0022613111 | Esophagus | ESCC | ribonucleoprotein complex biogenesis | 365/8552 | 463/18723 | 1.74e-49 | 1.11e-45 | 365 |
| GO:0042254111 | Esophagus | ESCC | ribosome biogenesis | 252/8552 | 299/18723 | 3.27e-44 | 1.04e-40 | 252 |
| GO:003447015 | Esophagus | ESCC | ncRNA processing | 300/8552 | 395/18723 | 3.09e-35 | 3.26e-32 | 300 |
| GO:0016072110 | Esophagus | ESCC | rRNA metabolic process | 197/8552 | 236/18723 | 1.31e-33 | 1.18e-30 | 197 |
| GO:0006364110 | Esophagus | ESCC | rRNA processing | 189/8552 | 225/18723 | 4.88e-33 | 3.87e-30 | 189 |
| Page: 1 2 3 4 5 6 7 8 |
| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| Page: 1 |
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Cell-cell communication analysis |
| Identification of potential cell-cell interactions between two cell types and their ligand-receptor pairs for different disease states |
| Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
| Page: 1 |
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Single-cell gene regulatory network inference analysis |
| Find out the significant the regulons (TFs) and the target genes of each regulon across cell types for different disease states |
| TF | Cell Type | Tissue | Disease Stage | Target Gene | RSS | Regulon Activity |
| ∗The dot plots of a searched regulon are shown for all cell subpopulations in each disease state of each tissue based on the regulon specific score inferred using pySCENIC and by calculating the average expression. |
| Page: 1 |
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Somatic mutation of malignant transformation related genes |
| Annotation of somatic variants for genes involved in malignant transformation |
| Hugo Symbol | Variant Class | Variant Classification | dbSNP RS | HGVSc | HGVSp | HGVSp Short | SWISSPROT | BIOTYPE | SIFT | PolyPhen | Tumor Sample Barcode | Tissue | Histology | Sex | Age | Stage | Therapy Types | Drugs | Outcome |
| DDX49 | SNV | Missense_Mutation | rs778338254 | c.868N>A | p.Ala290Thr | p.A290T | Q9Y6V7 | protein_coding | deleterious(0.03) | possibly_damaging(0.473) | TCGA-AC-A23C-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | chemo | CR |
| DDX49 | SNV | Missense_Mutation | rs143128503 | c.1274N>C | p.Leu425Pro | p.L425P | Q9Y6V7 | protein_coding | deleterious(0.04) | possibly_damaging(0.592) | TCGA-AR-A1AM-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | SD |
| DDX49 | SNV | Missense_Mutation | rs768911735 | c.422N>G | p.Phe141Cys | p.F141C | Q9Y6V7 | protein_coding | deleterious(0.01) | probably_damaging(0.948) | TCGA-AR-A1AV-01 | Breast | breast invasive carcinoma | Male | >=65 | I/II | Chemotherapy | cytoxan | SD |
| DDX49 | SNV | Missense_Mutation | c.119N>A | p.Arg40Gln | p.R40Q | Q9Y6V7 | protein_coding | tolerated(0.4) | benign(0.1) | TCGA-BH-A0E1-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD | |
| DDX49 | SNV | Missense_Mutation | c.798N>A | p.Met266Ile | p.M266I | Q9Y6V7 | protein_coding | tolerated(0.18) | benign(0.065) | TCGA-D8-A1JA-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | PD | |
| DDX49 | insertion | Frame_Shift_Ins | novel | c.816_817insAACCTCTGTCTCCTGGGTTCAAACAA | p.Phe273AsnfsTer18 | p.F273Nfs*18 | Q9Y6V7 | protein_coding | TCGA-A8-A07O-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | CR | |||
| DDX49 | insertion | Frame_Shift_Ins | novel | c.1060_1061insGGCTCACGCCTGTAATCTT | p.Gln354ArgfsTer49 | p.Q354Rfs*49 | Q9Y6V7 | protein_coding | TCGA-BH-A0HU-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | docetaxel | SD | ||
| DDX49 | insertion | Frame_Shift_Ins | novel | c.1062_1063insCACTT | p.Tyr355HisfsTer64 | p.Y355Hfs*64 | Q9Y6V7 | protein_coding | TCGA-BH-A0HU-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | docetaxel | SD | ||
| DDX49 | deletion | Frame_Shift_Del | novel | c.516delN | p.Leu173TrpfsTer17 | p.L173Wfs*17 | Q9Y6V7 | protein_coding | TCGA-EW-A2FV-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | docetaxel | SD | ||
| DDX49 | SNV | Missense_Mutation | rs143787772 | c.899N>A | p.Arg300Gln | p.R300Q | Q9Y6V7 | protein_coding | tolerated(0.21) | benign(0.072) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
| Page: 1 2 3 4 5 |
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Related drugs of malignant transformation related genes |
| Identification of chemicals and drugs interact with genes involved in malignant transfromation |
| (DGIdb 4.0) |
| Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
| Page: 1 |
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