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Gene: ACTG2 |
Gene summary for ACTG2 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | ACTG2 | Gene ID | 72 |
| Gene name | actin gamma 2, smooth muscle | |
| Gene Alias | ACT | |
| Cytomap | 2p13.1 | |
| Gene Type | protein-coding | GO ID | GO:0007275 | UniProtAcc | P63267 |
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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 |
| 72 | ACTG2 | P2T-E | Human | Esophagus | ESCC | 3.38e-10 | 4.24e-01 | 0.1177 |
| 72 | ACTG2 | P4T-E | Human | Esophagus | ESCC | 1.53e-04 | 5.70e-01 | 0.1323 |
| 72 | ACTG2 | P16T-E | Human | Esophagus | ESCC | 1.77e-104 | 3.33e+00 | 0.1153 |
| 72 | ACTG2 | P19T-E | Human | Esophagus | ESCC | 4.25e-02 | 2.23e+00 | 0.1662 |
| 72 | ACTG2 | P24T-E | Human | Esophagus | ESCC | 3.75e-03 | 6.74e-01 | 0.1287 |
| 72 | ACTG2 | P32T-E | Human | Esophagus | ESCC | 7.90e-03 | 5.29e-01 | 0.1666 |
| 72 | ACTG2 | P44T-E | Human | Esophagus | ESCC | 1.94e-02 | 1.30e+00 | 0.1096 |
| 72 | ACTG2 | P56T-E | Human | Esophagus | ESCC | 4.16e-09 | 1.90e+00 | 0.1613 |
| 72 | ACTG2 | P76T-E | Human | Esophagus | ESCC | 5.17e-27 | 1.59e+00 | 0.1207 |
| 72 | ACTG2 | P79T-E | Human | Esophagus | ESCC | 8.40e-04 | 2.13e-01 | 0.1154 |
| 72 | ACTG2 | P130T-E | Human | Esophagus | ESCC | 1.92e-37 | 2.05e+00 | 0.1676 |
| 72 | ACTG2 | ATC11 | Human | Thyroid | ATC | 3.71e-05 | 2.40e+00 | 0.3386 |
| 72 | ACTG2 | ATC13 | Human | Thyroid | ATC | 5.88e-09 | 4.69e-01 | 0.34 |
| 72 | ACTG2 | ATC3 | Human | Thyroid | ATC | 3.69e-12 | 2.27e+00 | 0.338 |
| 72 | ACTG2 | ATC5 | Human | Thyroid | ATC | 1.28e-08 | 5.44e-01 | 0.34 |
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| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Esophagus |  | ESCC: Esophageal squamous cell carcinoma |
| HGIN: High-grade intraepithelial neoplasias | ||
| LGIN: Low-grade intraepithelial neoplasias | ||
| Thyroid |  | ATC: Anaplastic thyroid cancer |
| HT: Hashimoto's thyroiditis | ||
| PTC: Papillary thyroid cancer |
| ∗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 |
| GO:00604856 | Esophagus | ESCC | mesenchyme development | 156/8552 | 291/18723 | 3.76e-03 | 1.53e-02 | 156 |
| GO:009013020 | Esophagus | ESCC | tissue migration | 190/8552 | 365/18723 | 7.91e-03 | 2.82e-02 | 190 |
| GO:009013031 | Thyroid | ATC | tissue migration | 171/6293 | 365/18723 | 8.55e-08 | 1.47e-06 | 171 |
| GO:006048521 | Thyroid | ATC | mesenchyme development | 136/6293 | 291/18723 | 2.04e-06 | 2.43e-05 | 136 |
| GO:0072132 | Thyroid | ATC | mesenchyme morphogenesis | 30/6293 | 52/18723 | 3.08e-04 | 1.94e-03 | 30 |
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| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
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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 |
| ACTG2 | SNV | Missense_Mutation | c.645N>C | p.Glu215Asp | p.E215D | P63267 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.997) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD | |
| ACTG2 | SNV | Missense_Mutation | c.1080N>T | p.Lys360Asn | p.K360N | P63267 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.982) | TCGA-AO-A0JJ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophospamide | SD | |
| ACTG2 | SNV | Missense_Mutation | c.337N>T | p.Pro113Ser | p.P113S | P63267 | protein_coding | deleterious_low_confidence(0.01) | probably_damaging(1) | TCGA-AR-A0TS-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD | |
| ACTG2 | SNV | Missense_Mutation | c.704N>T | p.Ser235Phe | p.S235F | P63267 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.991) | TCGA-E2-A10C-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD | |
| ACTG2 | insertion | Frame_Shift_Ins | novel | c.1122_1123insTACAA | p.Cys375TyrfsTer23 | p.C375Yfs*23 | P63267 | protein_coding | TCGA-A7-A0CE-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD | ||
| ACTG2 | insertion | In_Frame_Ins | novel | c.1124_1125insCCCAGCCTTACAGGGAGCAGTGCA | p.Cys375_Phe376insProAlaLeuGlnGlyAlaValHis | p.C375_F376insPALQGAVH | P63267 | protein_coding | TCGA-A7-A0CE-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD | ||
| ACTG2 | deletion | Frame_Shift_Del | novel | c.110delG | p.Gly37AlafsTer8 | p.G37Afs*8 | P63267 | protein_coding | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD | ||
| ACTG2 | SNV | Missense_Mutation | c.406G>A | p.Ala136Thr | p.A136T | P63267 | protein_coding | deleterious_low_confidence(0.04) | benign(0.246) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR | |
| ACTG2 | SNV | Missense_Mutation | novel | c.778N>A | p.Glu260Lys | p.E260K | P63267 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.964) | TCGA-C5-A7X5-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Chemotherapy | carboplatin | PD |
| ACTG2 | SNV | Missense_Mutation | c.172G>A | p.Glu58Lys | p.E58K | P63267 | protein_coding | deleterious_low_confidence(0.02) | probably_damaging(0.916) | TCGA-IR-A3LA-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
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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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