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Gene: DSC1 |
Gene summary for DSC1 |
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Gene information | Species | Human | Gene symbol | DSC1 | Gene ID | 1823 |
Gene name | desmocollin 1 | |
Gene Alias | CDHF1 | |
Cytomap | 18q12.1 | |
Gene Type | protein-coding | GO ID | GO:0007155 | UniProtAcc | Q08554 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
1823 | DSC1 | HCC1 | Human | Liver | HCC | 5.16e-13 | 1.15e+00 | 0.5336 |
1823 | DSC1 | HCC2 | Human | Liver | HCC | 1.25e-18 | 1.60e+00 | 0.5341 |
1823 | DSC1 | HCC5 | Human | Liver | HCC | 3.75e-13 | 1.06e+00 | 0.4932 |
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Tissue | Expression Dynamics | Abbreviation |
Liver | ![]() | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
∗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 |
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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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GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
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Cell-cell communication analysis |
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Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
DSC1 | DSG1 | DSC1_DSG1 | DESMOSOME | HNSCC | OSCC |
DSC1 | DSG2 | DSC1_DSG2 | DESMOSOME | HNSCC | OSCC |
DSC1 | DSG1 | DSC1_DSG1 | DESMOSOME | Skin | ADJ |
DSC1 | DSG2 | DSC1_DSG2 | DESMOSOME | Skin | ADJ |
DSC1 | DSG1 | DSC1_DSG1 | DESMOSOME | Skin | AK |
DSC1 | DSG2 | DSC1_DSG2 | DESMOSOME | Skin | AK |
DSC1 | DSG1 | DSC1_DSG1 | DESMOSOME | Skin | Healthy |
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Single-cell gene regulatory network inference analysis |
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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 |
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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 |
DSC1 | SNV | Missense_Mutation | c.107G>A | p.Arg36Gln | p.R36Q | Q08554 | protein_coding | tolerated(0.45) | benign(0.001) | TCGA-AX-A2HC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | PD | |
DSC1 | SNV | Missense_Mutation | rs760068759 | c.1670G>A | p.Arg557Gln | p.R557Q | Q08554 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-B5-A0JY-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | SD |
DSC1 | SNV | Missense_Mutation | c.2603N>A | p.Arg868Gln | p.R868Q | Q08554 | protein_coding | tolerated(0.62) | benign(0.035) | TCGA-B5-A11E-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
DSC1 | SNV | Missense_Mutation | rs150991775 | c.997N>A | p.Gly333Ser | p.G333S | Q08554 | protein_coding | deleterious(0.04) | probably_damaging(1) | TCGA-B5-A11E-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
DSC1 | SNV | Missense_Mutation | novel | c.2679G>T | p.Lys893Asn | p.K893N | Q08554 | protein_coding | deleterious(0.01) | benign(0.015) | TCGA-B5-A1MR-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
DSC1 | SNV | Missense_Mutation | rs777889677 | c.1720N>A | p.Ala574Thr | p.A574T | Q08554 | protein_coding | tolerated(0.47) | benign(0.026) | TCGA-B5-A3FA-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
DSC1 | SNV | Missense_Mutation | rs777889677 | c.1720G>A | p.Ala574Thr | p.A574T | Q08554 | protein_coding | tolerated(0.47) | benign(0.026) | TCGA-B5-A3FC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
DSC1 | SNV | Missense_Mutation | c.292G>A | p.Asp98Asn | p.D98N | Q08554 | protein_coding | tolerated(0.49) | benign(0.04) | TCGA-B5-A3FC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
DSC1 | SNV | Missense_Mutation | rs374935177 | c.767N>A | p.Arg256Gln | p.R256Q | Q08554 | protein_coding | deleterious(0.02) | possibly_damaging(0.591) | TCGA-BS-A0UF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
DSC1 | SNV | Missense_Mutation | novel | c.811N>A | p.Glu271Lys | p.E271K | Q08554 | protein_coding | deleterious(0.01) | possibly_damaging(0.683) | TCGA-BS-A0UV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
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Related drugs of malignant transformation related genes |
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(DGIdb 4.0) |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
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