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Gene: MASP2 |
Gene summary for MASP2 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | MASP2 | Gene ID | 10747 |
| Gene name | MBL associated serine protease 2 | |
| Gene Alias | MAP-2 | |
| Cytomap | 1p36.22 | |
| Gene Type | protein-coding | GO ID | GO:0001867 | UniProtAcc | O00187 |
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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 |
| 10747 | MASP2 | NAFLD1 | Human | Liver | NAFLD | 7.96e-03 | 4.33e-01 | -0.04 |
| 10747 | MASP2 | S41 | Human | Liver | Cirrhotic | 2.00e-06 | 4.33e-01 | -0.0343 |
| 10747 | MASP2 | HCC1_Meng | Human | Liver | HCC | 9.53e-09 | -4.88e-02 | 0.0246 |
| 10747 | MASP2 | HCC1 | Human | Liver | HCC | 2.35e-17 | 2.64e+00 | 0.5336 |
| 10747 | MASP2 | Pt13.a | Human | Liver | HCC | 1.84e-15 | 4.68e-01 | 0.021 |
| 10747 | MASP2 | Pt13.b | Human | Liver | HCC | 2.74e-33 | 5.08e-01 | 0.0251 |
| 10747 | MASP2 | Pt14.b | Human | Liver | HCC | 8.36e-05 | 3.22e-01 | 0.018 |
| 10747 | MASP2 | S028 | Human | Liver | HCC | 1.34e-03 | 2.14e-01 | 0.2503 |
| 10747 | MASP2 | S029 | Human | Liver | HCC | 5.32e-11 | 6.00e-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 |
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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 |
| 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 |
| MASP2 | SNV | Missense_Mutation | novel | c.528N>A | p.Asn176Lys | p.N176K | O00187 | protein_coding | deleterious(0) | probably_damaging(0.948) | TCGA-AC-A5XU-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | letrozole | SD |
| MASP2 | SNV | Missense_Mutation | novel | c.251N>C | p.Lys84Thr | p.K84T | O00187 | protein_coding | tolerated(0.22) | benign(0.127) | TCGA-AC-A8OQ-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| MASP2 | SNV | Missense_Mutation | c.166C>T | p.Arg56Cys | p.R56C | O00187 | protein_coding | deleterious(0) | probably_damaging(0.991) | TCGA-E2-A158-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | arimidex | SD | |
| MASP2 | insertion | In_Frame_Ins | novel | c.969_970insCACATT | p.Ser323_Phe324insHisIle | p.S323_F324insHI | O00187 | protein_coding | TCGA-A8-A07R-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Ancillary | zoledronic | SD | ||
| MASP2 | insertion | Nonsense_Mutation | novel | c.967_968insTTATTGATAAGCATGCATAGG | p.Ser323delinsIleIleAspLysHisAlaTerGly | p.S323delinsIIDKHA*G | O00187 | protein_coding | TCGA-A8-A07R-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Ancillary | zoledronic | SD | ||
| MASP2 | SNV | Missense_Mutation | c.700N>C | p.Glu234Gln | p.E234Q | O00187 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-C5-A1BQ-01 | Cervix | cervical & endocervical cancer | Female | >=65 | III/IV | Chemotherapy | cisplatin | CR | |
| MASP2 | SNV | Missense_Mutation | c.124N>A | p.Asp42Asn | p.D42N | O00187 | protein_coding | tolerated(0.53) | benign(0.001) | TCGA-IR-A3LH-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR | |
| MASP2 | SNV | Missense_Mutation | novel | c.1687N>G | p.Arg563Gly | p.R563G | O00187 | protein_coding | tolerated(0.11) | benign(0.007) | TCGA-A6-2672-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
| MASP2 | SNV | Missense_Mutation | novel | c.1451N>T | p.Ala484Val | p.A484V | O00187 | protein_coding | tolerated(0.71) | benign(0.003) | TCGA-AA-3877-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| MASP2 | SNV | Missense_Mutation | c.1928A>T | p.Glu643Val | p.E643V | O00187 | protein_coding | tolerated(0.08) | benign(0.035) | TCGA-AA-3977-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | 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 |
| 10747 | MASP2 | PROTEASE, DRUGGABLE GENOME, ENZYME | OMS721 | NARSOPLIMAB |
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