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Gene: MASP1 |
Gene summary for MASP1 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | MASP1 | Gene ID | 5648 |
| Gene name | MBL associated serine protease 1 | |
| Gene Alias | 3MC1 | |
| Cytomap | 3q27.3 | |
| Gene Type | protein-coding | GO ID | GO:0001867 | UniProtAcc | P48740 |
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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 |
| 5648 | MASP1 | NAFLD1 | Human | Liver | NAFLD | 8.81e-05 | 6.21e-01 | -0.04 |
| 5648 | MASP1 | S41 | Human | Liver | Cirrhotic | 4.33e-06 | 7.06e-01 | -0.0343 |
| 5648 | MASP1 | S43 | Human | Liver | Cirrhotic | 4.65e-07 | -1.51e-01 | -0.0187 |
| 5648 | MASP1 | HCC1_Meng | Human | Liver | HCC | 3.66e-76 | 1.84e-01 | 0.0246 |
| 5648 | MASP1 | HCC2_Meng | Human | Liver | HCC | 4.90e-08 | -3.00e-01 | 0.0107 |
| 5648 | MASP1 | cirrhotic2 | Human | Liver | Cirrhotic | 1.89e-02 | -1.09e-01 | 0.0201 |
| 5648 | MASP1 | HCC2 | Human | Liver | HCC | 4.17e-10 | 3.42e+00 | 0.5341 |
| 5648 | MASP1 | HCC5 | Human | Liver | HCC | 1.91e-04 | 6.64e-01 | 0.4932 |
| 5648 | MASP1 | Pt13.a | Human | Liver | HCC | 4.45e-08 | -2.84e-01 | 0.021 |
| 5648 | MASP1 | S014 | Human | Liver | HCC | 4.76e-05 | -3.20e-01 | 0.2254 |
| 5648 | MASP1 | S016 | Human | Liver | HCC | 7.86e-04 | -3.08e-01 | 0.2243 |
| 5648 | MASP1 | S028 | Human | Liver | HCC | 2.57e-02 | 3.43e-01 | 0.2503 |
| 5648 | MASP1 | S029 | Human | Liver | HCC | 1.20e-05 | 4.86e-01 | 0.2581 |
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| Transcriptomic changes along malignancy continuum. |
| 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 |
| 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 |
| Page: 1 |
| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| hsa0517114 | Liver | NAFLD | Coronavirus disease - COVID-19 | 111/1043 | 232/8465 | 1.01e-41 | 3.32e-39 | 2.67e-39 | 111 |
| hsa04610 | Liver | NAFLD | Complement and coagulation cascades | 35/1043 | 86/8465 | 2.48e-11 | 2.04e-09 | 1.64e-09 | 35 |
| hsa0517115 | Liver | NAFLD | Coronavirus disease - COVID-19 | 111/1043 | 232/8465 | 1.01e-41 | 3.32e-39 | 2.67e-39 | 111 |
| hsa046101 | Liver | NAFLD | Complement and coagulation cascades | 35/1043 | 86/8465 | 2.48e-11 | 2.04e-09 | 1.64e-09 | 35 |
| hsa0517122 | Liver | Cirrhotic | Coronavirus disease - COVID-19 | 136/2530 | 232/8465 | 3.28e-20 | 1.82e-18 | 1.12e-18 | 136 |
| hsa046102 | Liver | Cirrhotic | Complement and coagulation cascades | 48/2530 | 86/8465 | 4.41e-07 | 5.44e-06 | 3.35e-06 | 48 |
| hsa0517132 | Liver | Cirrhotic | Coronavirus disease - COVID-19 | 136/2530 | 232/8465 | 3.28e-20 | 1.82e-18 | 1.12e-18 | 136 |
| hsa046103 | Liver | Cirrhotic | Complement and coagulation cascades | 48/2530 | 86/8465 | 4.41e-07 | 5.44e-06 | 3.35e-06 | 48 |
| hsa0517142 | Liver | HCC | Coronavirus disease - COVID-19 | 167/4020 | 232/8465 | 1.50e-14 | 4.19e-13 | 2.33e-13 | 167 |
| hsa046104 | Liver | HCC | Complement and coagulation cascades | 57/4020 | 86/8465 | 3.19e-04 | 1.45e-03 | 8.04e-04 | 57 |
| hsa0517152 | Liver | HCC | Coronavirus disease - COVID-19 | 167/4020 | 232/8465 | 1.50e-14 | 4.19e-13 | 2.33e-13 | 167 |
| hsa046105 | Liver | HCC | Complement and coagulation cascades | 57/4020 | 86/8465 | 3.19e-04 | 1.45e-03 | 8.04e-04 | 57 |
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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 |
| MASP1 | SNV | Missense_Mutation | rs768033628 | c.2030G>A | p.Arg677His | p.R677H | P48740 | protein_coding | tolerated(0.27) | benign(0.019) | TCGA-A2-A0CO-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | CR |
| MASP1 | SNV | Missense_Mutation | c.1484N>T | p.Ser495Leu | p.S495L | P48740 | protein_coding | tolerated(0.12) | benign(0.001) | TCGA-AC-A5EH-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| MASP1 | SNV | Missense_Mutation | c.1160C>G | p.Thr387Ser | p.T387S | P48740 | protein_coding | tolerated(0.05) | probably_damaging(0.977) | TCGA-AR-A24S-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | anastrozole | SD | |
| MASP1 | SNV | Missense_Mutation | rs752301646 | c.1369G>A | p.Glu457Lys | p.E457K | P48740 | protein_coding | tolerated(0.84) | benign(0.036) | TCGA-BH-A2L8-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | CR |
| MASP1 | SNV | Missense_Mutation | rs765808321 | c.1927G>A | p.Val643Ile | p.V643I | P48740 | protein_coding | tolerated(0.35) | benign(0.184) | TCGA-E2-A1IE-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | PD |
| MASP1 | SNV | Missense_Mutation | rs770101396 | c.1909N>T | p.Arg637Cys | p.R637C | P48740 | protein_coding | deleterious(0.01) | possibly_damaging(0.886) | TCGA-E9-A1R7-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | fareston | SD |
| MASP1 | SNV | Missense_Mutation | rs767493716 | c.445N>A | p.Glu149Lys | p.E149K | P48740 | protein_coding | deleterious(0.04) | possibly_damaging(0.815) | TCGA-4J-AA1J-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
| MASP1 | SNV | Missense_Mutation | rs751292648 | c.1465N>A | p.Ala489Thr | p.A489T | P48740 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-MA-AA42-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Unknown | Unknown | SD |
| MASP1 | SNV | Missense_Mutation | novel | c.1885N>A | p.Glu629Lys | p.E629K | P48740 | protein_coding | tolerated(0.27) | benign(0.036) | TCGA-MY-A5BF-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Chemotherapy | cisplatin | CR |
| MASP1 | SNV | Missense_Mutation | novel | c.409G>A | p.Ala137Thr | p.A137T | P48740 | protein_coding | deleterious(0) | probably_damaging(0.98) | TCGA-VS-A9UL-01 | Cervix | cervical & endocervical cancer | Female | >=65 | III/IV | 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 |
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