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Gene: A2ML1 |
Gene summary for A2ML1 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | A2ML1 | Gene ID | 144568 |
| Gene name | alpha-2-macroglobulin like 1 | |
| Gene Alias | CPAMD9 | |
| Cytomap | 12p13.31 | |
| Gene Type | protein-coding | GO ID | GO:0006508 | UniProtAcc | A8K2U0 |
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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 |
| 144568 | A2ML1 | CCI_1 | Human | Cervix | CC | 2.49e-04 | 7.68e-01 | 0.528 |
| 144568 | A2ML1 | CCI_3 | Human | Cervix | CC | 1.67e-04 | 7.48e-01 | 0.516 |
| 144568 | A2ML1 | H2 | Human | Cervix | HSIL_HPV | 3.46e-13 | 4.20e-01 | 0.0632 |
| 144568 | A2ML1 | LZE22T | Human | Esophagus | ESCC | 1.57e-02 | 2.74e-01 | 0.068 |
| 144568 | A2ML1 | P1T-E | Human | Esophagus | ESCC | 1.64e-05 | 3.42e-01 | 0.0875 |
| 144568 | A2ML1 | P23T-E | Human | Esophagus | ESCC | 6.05e-08 | 2.64e-01 | 0.108 |
| 144568 | A2ML1 | P31T-E | Human | Esophagus | ESCC | 8.13e-04 | 1.17e-01 | 0.1251 |
| 144568 | A2ML1 | P82T-E | Human | Esophagus | ESCC | 2.06e-06 | 6.58e-01 | 0.1072 |
| 144568 | A2ML1 | P84T-E | Human | Esophagus | ESCC | 2.04e-06 | 1.18e+00 | 0.0933 |
| 144568 | A2ML1 | P127T-E | Human | Esophagus | ESCC | 1.56e-02 | 1.10e-01 | 0.0826 |
| 144568 | A2ML1 | P130T-E | Human | Esophagus | ESCC | 1.35e-23 | 4.44e-01 | 0.1676 |
| 144568 | A2ML1 | C38 | Human | Oral cavity | OSCC | 3.16e-16 | 1.12e+00 | 0.172 |
| 144568 | A2ML1 | C43 | Human | Oral cavity | OSCC | 1.87e-31 | 9.03e-01 | 0.1704 |
| 144568 | A2ML1 | C57 | Human | Oral cavity | OSCC | 1.60e-47 | 1.59e+00 | 0.1679 |
| 144568 | A2ML1 | LN38 | Human | Oral cavity | OSCC | 6.23e-08 | 1.07e+00 | 0.168 |
| 144568 | A2ML1 | SYSMH3 | Human | Oral cavity | OSCC | 1.93e-04 | 1.93e-01 | 0.2442 |
| 144568 | A2ML1 | SYSMH4 | Human | Oral cavity | OSCC | 1.04e-02 | 8.85e-02 | 0.1226 |
| 144568 | A2ML1 | SYSMH5 | Human | Oral cavity | OSCC | 8.18e-06 | 1.48e-01 | 0.0647 |
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| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Cervix |  | CC: Cervix cancer |
| HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions | ||
| N_HPV: HPV-infected normal cervix | ||
| Esophagus |  | ESCC: Esophageal squamous cell carcinoma |
| HGIN: High-grade intraepithelial neoplasias | ||
| LGIN: Low-grade intraepithelial neoplasias | ||
| Oral Cavity |  | EOLP: Erosive Oral lichen planus |
| LP: leukoplakia | ||
| NEOLP: Non-erosive oral lichen planus | ||
| OSCC: Oral squamous cell carcinoma |
| ∗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 |
| Esophagus | ESCC |  |
| Skin | AK |  |
| Skin | SCCIS |  |
| Skin | cSCC |  |
| Thyroid | HT |  |
| ∗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 |
| GO:005254710 | Cervix | CC | regulation of peptidase activity | 112/2311 | 461/18723 | 6.70e-13 | 3.08e-10 | 112 |
| GO:005254810 | Cervix | CC | regulation of endopeptidase activity | 103/2311 | 432/18723 | 1.89e-11 | 5.14e-09 | 103 |
| GO:004586110 | Cervix | CC | negative regulation of proteolysis | 80/2311 | 351/18723 | 2.88e-08 | 1.98e-06 | 80 |
| GO:00513469 | Cervix | CC | negative regulation of hydrolase activity | 81/2311 | 379/18723 | 4.27e-07 | 1.67e-05 | 81 |
| GO:00104669 | Cervix | CC | negative regulation of peptidase activity | 60/2311 | 262/18723 | 1.27e-06 | 4.34e-05 | 60 |
| GO:001095110 | Cervix | CC | negative regulation of endopeptidase activity | 56/2311 | 252/18723 | 7.43e-06 | 1.74e-04 | 56 |
| GO:005254715 | Cervix | HSIL_HPV | regulation of peptidase activity | 52/737 | 461/18723 | 8.35e-12 | 6.81e-09 | 52 |
| GO:005254815 | Cervix | HSIL_HPV | regulation of endopeptidase activity | 48/737 | 432/18723 | 9.20e-11 | 3.70e-08 | 48 |
| GO:004586115 | Cervix | HSIL_HPV | negative regulation of proteolysis | 36/737 | 351/18723 | 1.64e-07 | 1.02e-05 | 36 |
| GO:001046614 | Cervix | HSIL_HPV | negative regulation of peptidase activity | 30/737 | 262/18723 | 1.66e-07 | 1.03e-05 | 30 |
| GO:001095113 | Cervix | HSIL_HPV | negative regulation of endopeptidase activity | 29/737 | 252/18723 | 2.39e-07 | 1.44e-05 | 29 |
| GO:005134614 | Cervix | HSIL_HPV | negative regulation of hydrolase activity | 37/737 | 379/18723 | 3.81e-07 | 2.06e-05 | 37 |
| GO:0052547111 | Esophagus | ESCC | regulation of peptidase activity | 275/8552 | 461/18723 | 7.54e-10 | 1.88e-08 | 275 |
| GO:0052548111 | Esophagus | ESCC | regulation of endopeptidase activity | 253/8552 | 432/18723 | 3.68e-08 | 6.78e-07 | 253 |
| GO:0045861111 | Esophagus | ESCC | negative regulation of proteolysis | 195/8552 | 351/18723 | 1.13e-04 | 7.85e-04 | 195 |
| GO:0051346110 | Esophagus | ESCC | negative regulation of hydrolase activity | 208/8552 | 379/18723 | 1.76e-04 | 1.14e-03 | 208 |
| GO:001046620 | Esophagus | ESCC | negative regulation of peptidase activity | 140/8552 | 262/18723 | 6.73e-03 | 2.46e-02 | 140 |
| GO:001095119 | Esophagus | ESCC | negative regulation of endopeptidase activity | 135/8552 | 252/18723 | 6.86e-03 | 2.51e-02 | 135 |
| GO:005254720 | Oral cavity | OSCC | regulation of peptidase activity | 255/7305 | 461/18723 | 5.78e-13 | 2.75e-11 | 255 |
| GO:005254820 | Oral cavity | OSCC | regulation of endopeptidase activity | 235/7305 | 432/18723 | 4.35e-11 | 1.40e-09 | 235 |
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| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| Page: 1 |
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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 |
| A2ML1 | SNV | Missense_Mutation | rs372461898 | c.1224N>C | p.Trp408Cys | p.W408C | A8K2U0 | protein_coding | deleterious(0) | probably_damaging(0.94) | TCGA-A1-A0SO-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | SD | |
| A2ML1 | SNV | Missense_Mutation | rs376035211 | c.1298G>A | p.Arg433His | p.R433H | A8K2U0 | protein_coding | tolerated(0.55) | benign(0.001) | TCGA-A8-A08P-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | 5-fluorouracil | CR |
| A2ML1 | SNV | Missense_Mutation | novel | c.156N>A | p.Phe52Leu | p.F52L | A8K2U0 | protein_coding | tolerated(0.5) | benign(0.006) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| A2ML1 | SNV | Missense_Mutation | rs774161525 | c.568G>A | p.Glu190Lys | p.E190K | A8K2U0 | protein_coding | deleterious(0.02) | probably_damaging(0.956) | TCGA-AR-A251-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | SD |
| A2ML1 | SNV | Missense_Mutation | rs376705356 | c.4022N>T | p.Pro1341Leu | p.P1341L | A8K2U0 | protein_coding | tolerated(0.56) | benign(0) | TCGA-B6-A0WZ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | PD |
| A2ML1 | SNV | Missense_Mutation | novel | c.3760A>C | p.Thr1254Pro | p.T1254P | A8K2U0 | protein_coding | tolerated(0.1) | benign(0.222) | TCGA-BH-A0EE-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | docetaxel | SD |
| A2ML1 | SNV | Missense_Mutation | c.1907N>G | p.Ser636Cys | p.S636C | A8K2U0 | protein_coding | tolerated(0.18) | benign(0.003) | TCGA-BH-A0HP-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | doxorubicin | SD | |
| A2ML1 | SNV | Missense_Mutation | c.1568N>A | p.Thr523Asn | p.T523N | A8K2U0 | protein_coding | tolerated(0.06) | benign(0.405) | TCGA-C8-A12W-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD | |
| A2ML1 | SNV | Missense_Mutation | c.2439C>A | p.Phe813Leu | p.F813L | A8K2U0 | protein_coding | deleterious(0) | probably_damaging(0.942) | TCGA-C8-A26Y-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| A2ML1 | SNV | Missense_Mutation | c.2507C>T | p.Ser836Leu | p.S836L | A8K2U0 | protein_coding | tolerated(0.2) | benign(0.101) | TCGA-C8-A26Y-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 |
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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 |
| Page: 1 |
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