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Gene: DMD |
Gene summary for DMD |
Gene summary. |
Gene information | Species | Human | Gene symbol | DMD | Gene ID | 1756 |
Gene name | dystrophin | |
Gene Alias | BMD | |
Cytomap | Xp21.2-p21.1 | |
Gene Type | protein-coding | GO ID | GO:0001508 | UniProtAcc | P11532 |
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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 |
1756 | DMD | AEH-subject3 | Human | Endometrium | AEH | 8.07e-03 | 2.17e-01 | -0.2576 |
1756 | DMD | P2T-E | Human | Esophagus | ESCC | 7.44e-31 | 6.86e-01 | 0.1177 |
1756 | DMD | P5T-E | Human | Esophagus | ESCC | 8.69e-05 | 9.68e-02 | 0.1327 |
1756 | DMD | P10T-E | Human | Esophagus | ESCC | 2.17e-25 | 6.02e-01 | 0.116 |
1756 | DMD | P11T-E | Human | Esophagus | ESCC | 5.71e-04 | 2.89e-01 | 0.1426 |
1756 | DMD | P16T-E | Human | Esophagus | ESCC | 3.86e-22 | 4.30e-01 | 0.1153 |
1756 | DMD | P19T-E | Human | Esophagus | ESCC | 3.17e-07 | 6.15e-01 | 0.1662 |
1756 | DMD | P23T-E | Human | Esophagus | ESCC | 2.11e-08 | 3.42e-01 | 0.108 |
1756 | DMD | P26T-E | Human | Esophagus | ESCC | 2.75e-09 | 2.07e-01 | 0.1276 |
1756 | DMD | P28T-E | Human | Esophagus | ESCC | 3.51e-05 | 6.28e-02 | 0.1149 |
1756 | DMD | P37T-E | Human | Esophagus | ESCC | 3.04e-16 | 3.87e-01 | 0.1371 |
1756 | DMD | P44T-E | Human | Esophagus | ESCC | 1.98e-05 | 1.65e-01 | 0.1096 |
1756 | DMD | P52T-E | Human | Esophagus | ESCC | 1.33e-08 | 1.64e-01 | 0.1555 |
1756 | DMD | P57T-E | Human | Esophagus | ESCC | 6.92e-12 | 1.89e-01 | 0.0926 |
1756 | DMD | P61T-E | Human | Esophagus | ESCC | 7.74e-05 | 1.28e-01 | 0.099 |
1756 | DMD | P76T-E | Human | Esophagus | ESCC | 7.65e-19 | 3.83e-01 | 0.1207 |
1756 | DMD | P79T-E | Human | Esophagus | ESCC | 1.12e-10 | 2.13e-01 | 0.1154 |
1756 | DMD | P107T-E | Human | Esophagus | ESCC | 9.51e-05 | 1.01e-01 | 0.171 |
1756 | DMD | P128T-E | Human | Esophagus | ESCC | 1.87e-05 | 3.19e-01 | 0.1241 |
1756 | DMD | P130T-E | Human | Esophagus | ESCC | 1.65e-03 | 1.22e-01 | 0.1676 |
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Transcriptomic changes along malignancy continuum. |
∗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). |
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Enriched GO biological processes. |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00358218 | Oral cavity | OSCC | modulation of process of other organism | 64/7305 | 106/18723 | 6.70e-06 | 7.36e-05 | 64 |
GO:0051259 | Oral cavity | OSCC | protein complex oligomerization | 121/7305 | 238/18723 | 1.29e-04 | 9.21e-04 | 121 |
GO:00469315 | Oral cavity | OSCC | pore complex assembly | 15/7305 | 20/18723 | 1.19e-03 | 5.99e-03 | 15 |
GO:000181910 | Oral cavity | OSCC | positive regulation of cytokine production | 213/7305 | 467/18723 | 1.93e-03 | 8.96e-03 | 213 |
GO:0071496110 | Oral cavity | LP | cellular response to external stimulus | 124/4623 | 320/18723 | 1.44e-08 | 5.36e-07 | 124 |
GO:0031668110 | Oral cavity | LP | cellular response to extracellular stimulus | 91/4623 | 246/18723 | 1.07e-05 | 1.94e-04 | 91 |
GO:00512591 | Oral cavity | LP | protein complex oligomerization | 85/4623 | 238/18723 | 8.81e-05 | 1.11e-03 | 85 |
GO:003582113 | Oral cavity | LP | modulation of process of other organism | 41/4623 | 106/18723 | 9.70e-04 | 8.20e-03 | 41 |
GO:007149628 | Skin | cSCC | cellular response to external stimulus | 125/4864 | 320/18723 | 1.63e-07 | 3.65e-06 | 125 |
GO:003166825 | Skin | cSCC | cellular response to extracellular stimulus | 94/4864 | 246/18723 | 1.52e-05 | 1.87e-04 | 94 |
GO:003582115 | Skin | cSCC | modulation of process of other organism | 43/4864 | 106/18723 | 7.14e-04 | 5.03e-03 | 43 |
GO:00469317 | Skin | cSCC | pore complex assembly | 12/4864 | 20/18723 | 1.34e-03 | 8.54e-03 | 12 |
GO:0010563113 | Thyroid | PTC | negative regulation of phosphorus metabolic process | 219/5968 | 442/18723 | 4.47e-15 | 3.07e-13 | 219 |
GO:0045936113 | Thyroid | PTC | negative regulation of phosphate metabolic process | 218/5968 | 441/18723 | 7.08e-15 | 4.75e-13 | 218 |
GO:0001933113 | Thyroid | PTC | negative regulation of protein phosphorylation | 173/5968 | 342/18723 | 3.46e-13 | 1.75e-11 | 173 |
GO:0042326113 | Thyroid | PTC | negative regulation of phosphorylation | 189/5968 | 385/18723 | 1.00e-12 | 4.64e-11 | 189 |
GO:0071496113 | Thyroid | PTC | cellular response to external stimulus | 158/5968 | 320/18723 | 4.12e-11 | 1.47e-09 | 158 |
GO:0031668113 | Thyroid | PTC | cellular response to extracellular stimulus | 120/5968 | 246/18723 | 2.13e-08 | 4.91e-07 | 120 |
GO:0051235112 | Thyroid | PTC | maintenance of location | 148/5968 | 327/18723 | 2.30e-07 | 4.07e-06 | 148 |
GO:001810518 | Thyroid | PTC | peptidyl-serine phosphorylation | 143/5968 | 315/18723 | 2.94e-07 | 5.04e-06 | 143 |
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Enriched KEGG pathways. |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0541625 | Endometrium | AEH | Viral myocarditis | 27/1197 | 60/8465 | 6.98e-09 | 1.13e-07 | 8.30e-08 | 27 |
hsa05416111 | Endometrium | AEH | Viral myocarditis | 27/1197 | 60/8465 | 6.98e-09 | 1.13e-07 | 8.30e-08 | 27 |
hsa0541630 | Esophagus | ESCC | Viral myocarditis | 41/4205 | 60/8465 | 2.59e-03 | 7.05e-03 | 3.61e-03 | 41 |
hsa05416114 | Esophagus | ESCC | Viral myocarditis | 41/4205 | 60/8465 | 2.59e-03 | 7.05e-03 | 3.61e-03 | 41 |
hsa0541614 | Liver | Cirrhotic | Viral myocarditis | 28/2530 | 60/8465 | 4.38e-03 | 1.68e-02 | 1.03e-02 | 28 |
hsa0541615 | Liver | Cirrhotic | Viral myocarditis | 28/2530 | 60/8465 | 4.38e-03 | 1.68e-02 | 1.03e-02 | 28 |
hsa0541616 | Lung | IAC | Viral myocarditis | 21/1053 | 60/8465 | 5.30e-06 | 1.57e-04 | 1.04e-04 | 21 |
hsa054126 | Lung | IAC | Arrhythmogenic right ventricular cardiomyopathy | 22/1053 | 77/8465 | 1.15e-04 | 1.49e-03 | 9.88e-04 | 22 |
hsa05410 | Lung | IAC | Hypertrophic cardiomyopathy | 20/1053 | 90/8465 | 6.44e-03 | 2.68e-02 | 1.78e-02 | 20 |
hsa05414 | Lung | IAC | Dilated cardiomyopathy | 20/1053 | 96/8465 | 1.33e-02 | 4.64e-02 | 3.08e-02 | 20 |
hsa0541617 | Lung | IAC | Viral myocarditis | 21/1053 | 60/8465 | 5.30e-06 | 1.57e-04 | 1.04e-04 | 21 |
hsa0541211 | Lung | IAC | Arrhythmogenic right ventricular cardiomyopathy | 22/1053 | 77/8465 | 1.15e-04 | 1.49e-03 | 9.88e-04 | 22 |
hsa054101 | Lung | IAC | Hypertrophic cardiomyopathy | 20/1053 | 90/8465 | 6.44e-03 | 2.68e-02 | 1.78e-02 | 20 |
hsa054141 | Lung | IAC | Dilated cardiomyopathy | 20/1053 | 96/8465 | 1.33e-02 | 4.64e-02 | 3.08e-02 | 20 |
hsa0541622 | Lung | AIS | Viral myocarditis | 19/961 | 60/8465 | 2.01e-05 | 4.08e-04 | 2.61e-04 | 19 |
hsa0541221 | Lung | AIS | Arrhythmogenic right ventricular cardiomyopathy | 21/961 | 77/8465 | 9.05e-05 | 1.18e-03 | 7.57e-04 | 21 |
hsa054142 | Lung | AIS | Dilated cardiomyopathy | 22/961 | 96/8465 | 9.02e-04 | 7.11e-03 | 4.55e-03 | 22 |
hsa054102 | Lung | AIS | Hypertrophic cardiomyopathy | 20/961 | 90/8465 | 2.25e-03 | 1.37e-02 | 8.80e-03 | 20 |
hsa0541632 | Lung | AIS | Viral myocarditis | 19/961 | 60/8465 | 2.01e-05 | 4.08e-04 | 2.61e-04 | 19 |
hsa0541231 | Lung | AIS | Arrhythmogenic right ventricular cardiomyopathy | 21/961 | 77/8465 | 9.05e-05 | 1.18e-03 | 7.57e-04 | 21 |
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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 |
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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. |
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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 |
DMD | SNV | Missense_Mutation | c.7468N>A | p.Asp2490Asn | p.D2490N | protein_coding | deleterious(0.01) | benign(0.343) | TCGA-A1-A0SH-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | tc | SD | ||
DMD | SNV | Missense_Mutation | c.811C>G | p.Gln271Glu | p.Q271E | protein_coding | tolerated(0.21) | benign(0.007) | TCGA-A1-A0SI-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | ||
DMD | SNV | Missense_Mutation | c.3220G>A | p.Glu1074Lys | p.E1074K | protein_coding | deleterious(0) | probably_damaging(0.915) | TCGA-A2-A0CO-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | CR | ||
DMD | SNV | Missense_Mutation | c.5093N>A | p.Ala1698Asp | p.A1698D | protein_coding | deleterious(0) | possibly_damaging(0.739) | TCGA-A2-A25A-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Cytoxan | SD | ||
DMD | SNV | Missense_Mutation | novel | c.6703N>T | p.Ser2235Cys | p.S2235C | protein_coding | tolerated(0.07) | benign(0.003) | TCGA-A2-A3XU-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | arimidex | PD | |
DMD | SNV | Missense_Mutation | c.3215N>G | p.Lys1072Arg | p.K1072R | protein_coding | tolerated(0.49) | benign(0.358) | TCGA-A8-A08L-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD | ||
DMD | SNV | Missense_Mutation | rs772695216 | c.8999G>A | p.Arg3000His | p.R3000H | protein_coding | tolerated(0.33) | benign(0.001) | TCGA-A8-A09X-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD | |
DMD | SNV | Missense_Mutation | c.3329A>C | p.Glu1110Ala | p.E1110A | protein_coding | deleterious(0) | possibly_damaging(0.883) | TCGA-A8-A09X-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD | ||
DMD | SNV | Missense_Mutation | c.7687N>A | p.Glu2563Lys | p.E2563K | protein_coding | tolerated(0.22) | possibly_damaging(0.79) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD | ||
DMD | SNV | Missense_Mutation | c.5116N>A | p.Glu1706Lys | p.E1706K | protein_coding | tolerated(0.1) | probably_damaging(0.991) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
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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 |
1756 | DMD | CELL SURFACE, TRANSPORTER, DRUGGABLE GENOME | Ataluren | ATALUREN | ||
1756 | DMD | CELL SURFACE, TRANSPORTER, DRUGGABLE GENOME | WVE-210201 | |||
1756 | DMD | CELL SURFACE, TRANSPORTER, DRUGGABLE GENOME | Golodirsen | GOLODIRSEN | ||
1756 | DMD | CELL SURFACE, TRANSPORTER, DRUGGABLE GENOME | PRO044 | |||
1756 | DMD | CELL SURFACE, TRANSPORTER, DRUGGABLE GENOME | eteplirsen | ETEPLIRSEN | ||
1756 | DMD | CELL SURFACE, TRANSPORTER, DRUGGABLE GENOME | DYSTROPHIN | |||
1756 | DMD | CELL SURFACE, TRANSPORTER, DRUGGABLE GENOME | MyoDys | |||
1756 | DMD | CELL SURFACE, TRANSPORTER, DRUGGABLE GENOME | Biostrophin | |||
1756 | DMD | CELL SURFACE, TRANSPORTER, DRUGGABLE GENOME | Eteplirsen | ETEPLIRSEN | ||
1756 | DMD | CELL SURFACE, TRANSPORTER, DRUGGABLE GENOME | Golodirsen | GOLODIRSEN |
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