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Gene: MDC1 |
Gene summary for MDC1 |
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Gene information | Species | Human | Gene symbol | MDC1 | Gene ID | 9656 |
Gene name | mediator of DNA damage checkpoint 1 | |
Gene Alias | NFBD1 | |
Cytomap | 6p21.33 | |
Gene Type | protein-coding | GO ID | GO:0000075 | UniProtAcc | A0A1U9XBC1 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
9656 | MDC1 | HCC1_Meng | Human | Liver | HCC | 9.91e-19 | -2.96e-03 | 0.0246 |
9656 | MDC1 | HCC1 | Human | Liver | HCC | 3.68e-03 | 3.58e+00 | 0.5336 |
9656 | MDC1 | S014 | Human | Liver | HCC | 1.62e-06 | 4.73e-01 | 0.2254 |
9656 | MDC1 | S027 | Human | Liver | HCC | 8.35e-04 | 6.32e-01 | 0.2446 |
9656 | MDC1 | S028 | Human | Liver | HCC | 5.66e-13 | 6.26e-01 | 0.2503 |
9656 | MDC1 | S029 | Human | Liver | HCC | 9.41e-06 | 3.66e-01 | 0.2581 |
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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 |
GO:000734611 | Liver | HCC | regulation of mitotic cell cycle | 255/7958 | 457/18723 | 4.96e-09 | 1.30e-07 | 255 |
GO:19019871 | Liver | HCC | regulation of cell cycle phase transition | 211/7958 | 390/18723 | 2.11e-06 | 2.89e-05 | 211 |
GO:00427702 | Liver | HCC | signal transduction in response to DNA damage | 103/7958 | 172/18723 | 3.05e-06 | 4.04e-05 | 103 |
GO:00000751 | Liver | HCC | cell cycle checkpoint | 100/7958 | 169/18723 | 8.75e-06 | 1.02e-04 | 100 |
GO:0045786 | Liver | HCC | negative regulation of cell cycle | 204/7958 | 385/18723 | 1.84e-05 | 1.99e-04 | 204 |
GO:0045930 | Liver | HCC | negative regulation of mitotic cell cycle | 130/7958 | 235/18723 | 4.69e-05 | 4.50e-04 | 130 |
GO:0007093 | Liver | HCC | mitotic cell cycle checkpoint | 77/7958 | 129/18723 | 6.00e-05 | 5.50e-04 | 77 |
GO:00000771 | Liver | HCC | DNA damage checkpoint | 68/7958 | 115/18723 | 2.33e-04 | 1.77e-03 | 68 |
GO:0031570 | Liver | HCC | DNA integrity checkpoint | 71/7958 | 123/18723 | 4.64e-04 | 3.08e-03 | 71 |
GO:1901988 | Liver | HCC | negative regulation of cell cycle phase transition | 132/7958 | 249/18723 | 4.97e-04 | 3.25e-03 | 132 |
GO:0010948 | Liver | HCC | negative regulation of cell cycle process | 152/7958 | 294/18723 | 8.50e-04 | 5.08e-03 | 152 |
GO:0044773 | Liver | HCC | mitotic DNA damage checkpoint | 48/7958 | 81/18723 | 1.72e-03 | 8.96e-03 | 48 |
GO:0044774 | Liver | HCC | mitotic DNA integrity checkpoint | 49/7958 | 85/18723 | 3.44e-03 | 1.55e-02 | 49 |
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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 |
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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 |
MDC1 | SNV | Missense_Mutation | c.5914N>A | p.Asp1972Asn | p.D1972N | Q14676 | protein_coding | deleterious(0) | probably_damaging(0.994) | TCGA-HU-A4GT-01 | Stomach | stomach adenocarcinoma | Female | >=65 | I/II | Chemotherapy | copolang | SD | |
MDC1 | SNV | Missense_Mutation | novel | c.1691T>C | p.Val564Ala | p.V564A | Q14676 | protein_coding | tolerated(0.12) | benign(0.108) | TCGA-RD-A8NB-01 | Stomach | stomach adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | PD |
MDC1 | SNV | Missense_Mutation | novel | c.4931G>T | p.Arg1644Met | p.R1644M | Q14676 | protein_coding | deleterious(0) | probably_damaging(0.931) | TCGA-VQ-A8P2-01 | Stomach | stomach adenocarcinoma | Male | >=65 | III/IV | Unspecific | Complete Response | |
MDC1 | SNV | Missense_Mutation | rs201814179 | c.3923G>A | p.Arg1308Gln | p.R1308Q | Q14676 | protein_coding | tolerated(0.64) | benign(0) | TCGA-VQ-A8P2-01 | Stomach | stomach adenocarcinoma | Male | >=65 | III/IV | Unspecific | Complete Response | |
MDC1 | SNV | Missense_Mutation | novel | c.3137C>T | p.Pro1046Leu | p.P1046L | Q14676 | protein_coding | tolerated(0.3) | benign(0) | TCGA-VQ-A8PH-01 | Stomach | stomach adenocarcinoma | Male | <65 | III/IV | Unknown | Unknown | PD |
MDC1 | SNV | Missense_Mutation | rs148973631 | c.4538G>A | p.Arg1513Gln | p.R1513Q | Q14676 | protein_coding | tolerated(0.7) | benign(0.044) | TCGA-VQ-A91D-01 | Stomach | stomach adenocarcinoma | Male | >=65 | III/IV | Chemotherapy | fluorouracil | PD |
MDC1 | SNV | Missense_Mutation | novel | c.2281G>A | p.Glu761Lys | p.E761K | Q14676 | protein_coding | deleterious(0.03) | benign(0.003) | TCGA-VQ-A91D-01 | Stomach | stomach adenocarcinoma | Male | >=65 | III/IV | Chemotherapy | fluorouracil | PD |
MDC1 | SNV | Missense_Mutation | rs747316218 | c.4169N>A | p.Arg1390Gln | p.R1390Q | Q14676 | protein_coding | tolerated(0.61) | benign(0) | TCGA-VQ-A91E-01 | Stomach | stomach adenocarcinoma | Female | >=65 | III/IV | Chemotherapy | fluorouracil | CR |
MDC1 | SNV | Missense_Mutation | novel | c.2979N>T | p.Arg993Ser | p.R993S | Q14676 | protein_coding | tolerated(0.05) | benign(0.227) | TCGA-EM-A2CL-01 | Thyroid | thyroid carcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
MDC1 | insertion | Frame_Shift_Ins | novel | c.4585_4586insTGTGGGCT | p.Thr1529MetfsTer49 | p.T1529Mfs*49 | Q14676 | protein_coding | TCGA-FY-A4B0-01 | Thyroid | thyroid carcinoma | Male | >=65 | I/II | Hormone Therapy | synthroid | 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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