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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:00018196 | Breast | Precancer | positive regulation of cytokine production | 52/1080 | 467/18723 | 4.18e-06 | 1.29e-04 | 52 |
GO:00714969 | Breast | Precancer | cellular response to external stimulus | 33/1080 | 320/18723 | 9.01e-04 | 1.03e-02 | 33 |
GO:00316688 | Breast | Precancer | cellular response to extracellular stimulus | 27/1080 | 246/18723 | 1.02e-03 | 1.13e-02 | 27 |
GO:0032732 | Breast | Precancer | positive regulation of interleukin-1 production | 11/1080 | 73/18723 | 2.96e-03 | 2.55e-02 | 11 |
GO:000181911 | Breast | IDC | positive regulation of cytokine production | 61/1434 | 467/18723 | 2.81e-05 | 6.58e-04 | 61 |
GO:007149614 | Breast | IDC | cellular response to external stimulus | 45/1434 | 320/18723 | 5.40e-05 | 1.15e-03 | 45 |
GO:003166814 | Breast | IDC | cellular response to extracellular stimulus | 35/1434 | 246/18723 | 2.79e-04 | 4.26e-03 | 35 |
GO:00358214 | Breast | IDC | modulation of process of other organism | 16/1434 | 106/18723 | 6.70e-03 | 4.66e-02 | 16 |
GO:000181921 | Breast | DCIS | positive regulation of cytokine production | 63/1390 | 467/18723 | 2.76e-06 | 9.42e-05 | 63 |
GO:007149623 | Breast | DCIS | cellular response to external stimulus | 45/1390 | 320/18723 | 2.55e-05 | 5.87e-04 | 45 |
GO:003166822 | Breast | DCIS | cellular response to extracellular stimulus | 35/1390 | 246/18723 | 1.54e-04 | 2.59e-03 | 35 |
GO:00327321 | Breast | DCIS | positive regulation of interleukin-1 production | 13/1390 | 73/18723 | 2.57e-03 | 2.30e-02 | 13 |
GO:0071496 | Colorectum | AD | cellular response to external stimulus | 94/3918 | 320/18723 | 1.98e-04 | 2.64e-03 | 94 |
GO:0031668 | Colorectum | AD | cellular response to extracellular stimulus | 71/3918 | 246/18723 | 1.86e-03 | 1.52e-02 | 71 |
GO:0035821 | Colorectum | AD | modulation of process of other organism | 34/3918 | 106/18723 | 4.73e-03 | 3.22e-02 | 34 |
GO:00714961 | Colorectum | SER | cellular response to external stimulus | 70/2897 | 320/18723 | 1.40e-03 | 1.53e-02 | 70 |
GO:00316681 | Colorectum | SER | cellular response to extracellular stimulus | 54/2897 | 246/18723 | 4.26e-03 | 3.45e-02 | 54 |
GO:00714962 | Colorectum | MSS | cellular response to external stimulus | 82/3467 | 320/18723 | 9.30e-04 | 9.44e-03 | 82 |
GO:00358211 | Colorectum | MSS | modulation of process of other organism | 33/3467 | 106/18723 | 1.18e-03 | 1.14e-02 | 33 |
GO:00316682 | Colorectum | MSS | cellular response to extracellular stimulus | 62/3467 | 246/18723 | 5.39e-03 | 3.67e-02 | 62 |
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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.2963N>A | p.Ser988Tyr | p.S988Y | protein_coding | deleterious(0.02) | possibly_damaging(0.863) | TCGA-B5-A0JY-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | SD | ||
DMD | SNV | Missense_Mutation | c.2130N>T | p.Lys710Asn | p.K710N | protein_coding | deleterious(0) | probably_damaging(0.991) | TCGA-B5-A0JY-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | SD | ||
DMD | SNV | Missense_Mutation | c.1526N>A | p.Ser509Tyr | p.S509Y | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-B5-A0JY-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | SD | ||
DMD | SNV | Missense_Mutation | novel | c.630N>T | p.Glu210Asp | p.E210D | protein_coding | tolerated(0.19) | benign(0.05) | TCGA-B5-A0JY-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | SD | |
DMD | SNV | Missense_Mutation | c.418N>A | p.Leu140Ile | p.L140I | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-B5-A0JY-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | SD | ||
DMD | SNV | Missense_Mutation | c.8179N>T | p.Asp2727Tyr | p.D2727Y | protein_coding | deleterious(0) | probably_damaging(0.986) | TCGA-B5-A11E-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | ||
DMD | SNV | Missense_Mutation | c.6582N>T | p.Glu2194Asp | p.E2194D | protein_coding | tolerated(0.42) | benign(0.003) | TCGA-B5-A11E-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | ||
DMD | SNV | Missense_Mutation | c.31N>C | p.Tyr11His | p.Y11H | protein_coding | tolerated(0.21) | probably_damaging(0.982) | TCGA-B5-A11E-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | ||
DMD | SNV | Missense_Mutation | novel | c.4351N>A | p.Leu1451Ile | p.L1451I | protein_coding | deleterious(0.02) | benign(0.323) | TCGA-B5-A11G-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
DMD | SNV | Missense_Mutation | novel | c.7388C>G | p.Ser2463Cys | p.S2463C | protein_coding | deleterious(0.02) | probably_damaging(0.99) | TCGA-B5-A11L-01 | Endometrium | uterine corpus endometrioid 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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