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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). |
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Enriched GO biological processes. |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
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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 |
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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 |
MASP1 | insertion | Frame_Shift_Ins | novel | c.2063_2064insGG | p.Pro689AspfsTer53 | p.P689Dfs*53 | P48740 | protein_coding | TCGA-22-A5C4-01 | Lung | lung squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | ||
MASP1 | SNV | Missense_Mutation | rs144963945 | c.1870N>A | p.Val624Met | p.V624M | P48740 | protein_coding | deleterious(0.01) | probably_damaging(0.943) | TCGA-CN-5369-01 | Oral cavity | head & neck squamous cell carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
MASP1 | SNV | Missense_Mutation | novel | c.643A>G | p.Thr215Ala | p.T215A | P48740 | protein_coding | tolerated(0.31) | benign(0.005) | TCGA-CR-7399-01 | Oral cavity | head & neck squamous cell carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
MASP1 | SNV | Missense_Mutation | rs774753334 | c.1960G>A | p.Glu654Lys | p.E654K | P48740 | protein_coding | deleterious(0.01) | possibly_damaging(0.674) | TCGA-CV-7263-01 | Oral cavity | head & neck squamous cell carcinoma | Male | <65 | I/II | Unknown | Unknown | PD |
MASP1 | SNV | Missense_Mutation | novel | c.643A>G | p.Thr215Ala | p.T215A | P48740 | protein_coding | tolerated(0.31) | benign(0.005) | TCGA-CV-A45W-01 | Oral cavity | head & neck squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
MASP1 | SNV | Missense_Mutation | rs376120569 | c.1456G>A | p.Val486Met | p.V486M | P48740 | protein_coding | deleterious(0.01) | benign(0.127) | TCGA-F7-A624-01 | Oral cavity | head & neck squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
MASP1 | SNV | Missense_Mutation | rs766084598 | c.355C>T | p.Arg119Trp | p.R119W | P48740 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-HD-8635-01 | Oral cavity | head & neck squamous cell carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
MASP1 | SNV | Missense_Mutation | c.762A>C | p.Lys254Asn | p.K254N | P48740 | protein_coding | tolerated(0.17) | benign(0.007) | TCGA-QK-A6VC-01 | Oral cavity | head & neck squamous cell carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
MASP1 | SNV | Missense_Mutation | novel | c.436A>T | p.Arg146Trp | p.R146W | P48740 | protein_coding | deleterious(0.01) | possibly_damaging(0.753) | TCGA-QK-A8Z7-01 | Oral cavity | head & neck squamous cell carcinoma | Male | <65 | I/II | Chemotherapy | carboplatin | CR |
MASP1 | SNV | Missense_Mutation | c.762N>C | p.Lys254Asn | p.K254N | P48740 | protein_coding | tolerated(0.17) | benign(0.007) | TCGA-CH-5754-01 | Prostate | prostate adenocarcinoma | Male | >=65 | 9 | Unknown | Unknown | SD |
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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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