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Gene: ACVR2A |
Gene summary for ACVR2A |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | ACVR2A | Gene ID | 92 |
| Gene name | activin A receptor type 2A | |
| Gene Alias | ACTRII | |
| Cytomap | 2q22.3-q23.1 | |
| Gene Type | protein-coding | GO ID | GO:0000003 | UniProtAcc | P27037 |
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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 |
| 92 | ACVR2A | CCI_1 | Human | Cervix | CC | 3.89e-06 | 4.47e-01 | 0.528 |
| 92 | ACVR2A | CCI_2 | Human | Cervix | CC | 3.62e-03 | 5.83e-01 | 0.5249 |
| 92 | ACVR2A | CCI_3 | Human | Cervix | CC | 2.27e-05 | 5.37e-01 | 0.516 |
| 92 | ACVR2A | HTA11_3410_2000001011 | Human | Colorectum | AD | 1.70e-10 | -4.92e-01 | 0.0155 |
| 92 | ACVR2A | HTA11_3361_2000001011 | Human | Colorectum | AD | 6.07e-04 | -4.93e-01 | -0.1207 |
| 92 | ACVR2A | HTA11_696_2000001011 | Human | Colorectum | AD | 1.84e-14 | -4.89e-01 | -0.1464 |
| 92 | ACVR2A | HTA11_866_2000001011 | Human | Colorectum | AD | 6.43e-09 | -4.31e-01 | -0.1001 |
| 92 | ACVR2A | HTA11_1391_2000001011 | Human | Colorectum | AD | 1.53e-03 | -3.72e-01 | -0.059 |
| 92 | ACVR2A | HTA11_866_3004761011 | Human | Colorectum | AD | 8.47e-09 | -4.97e-01 | 0.096 |
| 92 | ACVR2A | HTA11_4255_2000001011 | Human | Colorectum | SER | 7.79e-03 | -6.15e-01 | 0.0446 |
| 92 | ACVR2A | HTA11_10711_2000001011 | Human | Colorectum | AD | 1.06e-02 | -4.23e-01 | 0.0338 |
| 92 | ACVR2A | HTA11_7696_3000711011 | Human | Colorectum | AD | 9.12e-12 | -4.53e-01 | 0.0674 |
| 92 | ACVR2A | HTA11_6818_2000001021 | Human | Colorectum | AD | 2.51e-02 | -4.21e-01 | 0.0588 |
| 92 | ACVR2A | HTA11_99999970781_79442 | Human | Colorectum | MSS | 7.99e-09 | -4.05e-01 | 0.294 |
| 92 | ACVR2A | HTA11_99999971662_82457 | Human | Colorectum | MSS | 1.42e-09 | -4.40e-01 | 0.3859 |
| 92 | ACVR2A | HTA11_99999973899_84307 | Human | Colorectum | MSS | 2.10e-02 | -5.05e-01 | 0.2585 |
| 92 | ACVR2A | HTA11_99999974143_84620 | Human | Colorectum | MSS | 4.28e-17 | -5.11e-01 | 0.3005 |
| 92 | ACVR2A | A015-C-203 | Human | Colorectum | FAP | 9.58e-20 | -3.79e-01 | -0.1294 |
| 92 | ACVR2A | A014-C-040 | Human | Colorectum | FAP | 3.18e-03 | -4.71e-01 | -0.1184 |
| 92 | ACVR2A | A002-C-201 | Human | Colorectum | FAP | 5.88e-09 | -2.73e-01 | 0.0324 |
| Page: 1 2 3 |
| 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 | ||
| Colorectum (GSE201348) |  | FAP: Familial adenomatous polyposis |
| CRC: Colorectal cancer | ||
| Colorectum (HTA11) |  | AD: Adenomas |
| SER: Sessile serrated lesions | ||
| MSI-H: Microsatellite-high colorectal cancer | ||
| MSS: Microsatellite stable colorectal 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:00506737 | Cervix | CC | epithelial cell proliferation | 98/2311 | 437/18723 | 2.01e-09 | 2.15e-07 | 98 |
| GO:003009910 | Cervix | CC | myeloid cell differentiation | 83/2311 | 381/18723 | 1.31e-07 | 6.42e-06 | 83 |
| GO:190370610 | Cervix | CC | regulation of hemopoiesis | 80/2311 | 367/18723 | 2.14e-07 | 9.55e-06 | 80 |
| GO:000226210 | Cervix | CC | myeloid cell homeostasis | 43/2311 | 157/18723 | 2.66e-07 | 1.12e-05 | 43 |
| GO:003410110 | Cervix | CC | erythrocyte homeostasis | 37/2311 | 129/18723 | 5.16e-07 | 1.93e-05 | 37 |
| GO:00614588 | Cervix | CC | reproductive system development | 87/2311 | 427/18723 | 1.37e-06 | 4.55e-05 | 87 |
| GO:00486088 | Cervix | CC | reproductive structure development | 86/2311 | 424/18723 | 1.90e-06 | 5.97e-05 | 86 |
| GO:003021810 | Cervix | CC | erythrocyte differentiation | 34/2311 | 120/18723 | 2.00e-06 | 6.18e-05 | 34 |
| GO:004887210 | Cervix | CC | homeostasis of number of cells | 61/2311 | 272/18723 | 2.17e-06 | 6.55e-05 | 61 |
| GO:004563710 | Cervix | CC | regulation of myeloid cell differentiation | 48/2311 | 210/18723 | 1.49e-05 | 2.93e-04 | 48 |
| GO:00456468 | Cervix | CC | regulation of erythrocyte differentiation | 17/2311 | 47/18723 | 2.38e-05 | 4.16e-04 | 17 |
| GO:00456397 | Cervix | CC | positive regulation of myeloid cell differentiation | 28/2311 | 103/18723 | 3.56e-05 | 5.70e-04 | 28 |
| GO:00073695 | Cervix | CC | gastrulation | 42/2311 | 185/18723 | 5.83e-05 | 8.46e-04 | 42 |
| GO:00071786 | Cervix | CC | transmembrane receptor protein serine/threonine kinase signaling pathway | 67/2311 | 355/18723 | 2.39e-04 | 2.67e-03 | 67 |
| GO:00016497 | Cervix | CC | osteoblast differentiation | 47/2311 | 229/18723 | 2.88e-04 | 3.11e-03 | 47 |
| GO:00456483 | Cervix | CC | positive regulation of erythrocyte differentiation | 12/2311 | 33/18723 | 3.53e-04 | 3.68e-03 | 12 |
| GO:00447064 | Cervix | CC | multi-multicellular organism process | 45/2311 | 220/18723 | 4.14e-04 | 4.21e-03 | 45 |
| GO:0045667 | Cervix | CC | regulation of osteoblast differentiation | 29/2311 | 132/18723 | 1.32e-03 | 1.05e-02 | 29 |
| GO:00015037 | Cervix | CC | ossification | 71/2311 | 408/18723 | 1.67e-03 | 1.28e-02 | 71 |
| GO:00302781 | Cervix | CC | regulation of ossification | 24/2311 | 115/18723 | 6.51e-03 | 3.61e-02 | 24 |
| Page: 1 2 3 4 5 6 |
| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| hsa0541820 | Cervix | CC | Fluid shear stress and atherosclerosis | 50/1267 | 139/8465 | 5.71e-10 | 1.32e-08 | 7.81e-09 | 50 |
| hsa05418110 | Cervix | CC | Fluid shear stress and atherosclerosis | 50/1267 | 139/8465 | 5.71e-10 | 1.32e-08 | 7.81e-09 | 50 |
| hsa05418 | Colorectum | AD | Fluid shear stress and atherosclerosis | 54/2092 | 139/8465 | 1.41e-04 | 1.16e-03 | 7.37e-04 | 54 |
| hsa054181 | Colorectum | AD | Fluid shear stress and atherosclerosis | 54/2092 | 139/8465 | 1.41e-04 | 1.16e-03 | 7.37e-04 | 54 |
| hsa054182 | Colorectum | SER | Fluid shear stress and atherosclerosis | 40/1580 | 139/8465 | 2.28e-03 | 1.75e-02 | 1.27e-02 | 40 |
| hsa04350 | Colorectum | SER | TGF-beta signaling pathway | 31/1580 | 108/8465 | 7.00e-03 | 3.77e-02 | 2.74e-02 | 31 |
| hsa054183 | Colorectum | SER | Fluid shear stress and atherosclerosis | 40/1580 | 139/8465 | 2.28e-03 | 1.75e-02 | 1.27e-02 | 40 |
| hsa043501 | Colorectum | SER | TGF-beta signaling pathway | 31/1580 | 108/8465 | 7.00e-03 | 3.77e-02 | 2.74e-02 | 31 |
| hsa054184 | Colorectum | MSS | Fluid shear stress and atherosclerosis | 51/1875 | 139/8465 | 6.06e-05 | 5.80e-04 | 3.55e-04 | 51 |
| hsa054185 | Colorectum | MSS | Fluid shear stress and atherosclerosis | 51/1875 | 139/8465 | 6.06e-05 | 5.80e-04 | 3.55e-04 | 51 |
| hsa054188 | Colorectum | FAP | Fluid shear stress and atherosclerosis | 45/1404 | 139/8465 | 3.05e-06 | 4.63e-05 | 2.81e-05 | 45 |
| hsa054189 | Colorectum | FAP | Fluid shear stress and atherosclerosis | 45/1404 | 139/8465 | 3.05e-06 | 4.63e-05 | 2.81e-05 | 45 |
| 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 |
| BMP7 | ACVR1_ACVR2A | BMP7_ACVR1_ACVR2A | BMP | Cervix | CC |
| BMP7 | BMPR1A_ACVR2A | BMP7_BMPR1A_ACVR2A | BMP | Cervix | CC |
| BMP7 | BMPR1B_ACVR2A | BMP7_BMPR1B_ACVR2A | BMP | Cervix | CC |
| INHBA | ACVR1B_ACVR2A | INHBA_ACVR1B_ACVR2A | ACTIVIN | Cervix | CC |
| INHBB | ACVR1B_ACVR2A | INHBB_ACVR1B_ACVR2A | ACTIVIN | Cervix | CC |
| BMP2 | BMPR1A_ACVR2A | BMP2_BMPR1A_ACVR2A | BMP | CRC | ADJ |
| BMP4 | BMPR1A_ACVR2A | BMP4_BMPR1A_ACVR2A | BMP | CRC | ADJ |
| BMP5 | BMPR1A_ACVR2A | BMP5_BMPR1A_ACVR2A | BMP | CRC | ADJ |
| BMP6 | BMPR1A_ACVR2A | BMP6_BMPR1A_ACVR2A | BMP | CRC | ADJ |
| BMP2 | BMPR1A_ACVR2A | BMP2_BMPR1A_ACVR2A | BMP | CRC | FAP |
| BMP5 | BMPR1A_ACVR2A | BMP5_BMPR1A_ACVR2A | BMP | CRC | FAP |
| BMP6 | BMPR1A_ACVR2A | BMP6_BMPR1A_ACVR2A | BMP | CRC | FAP |
| BMP2 | BMPR1A_ACVR2A | BMP2_BMPR1A_ACVR2A | BMP | CRC | Healthy |
| BMP4 | BMPR1A_ACVR2A | BMP4_BMPR1A_ACVR2A | BMP | CRC | MSI-H |
| BMP6 | ACVR1_ACVR2A | BMP6_ACVR1_ACVR2A | BMP | CRC | MSI-H |
| BMP6 | BMPR1A_ACVR2A | BMP6_BMPR1A_ACVR2A | BMP | CRC | MSI-H |
| INHBB | ACVR1B_ACVR2A | INHBB_ACVR1B_ACVR2A | ACTIVIN | CRC | MSI-H |
| BMP5 | ACVR1_ACVR2A | BMP5_ACVR1_ACVR2A | BMP | Liver | Healthy |
| BMP5 | BMPR1A_ACVR2A | BMP5_BMPR1A_ACVR2A | BMP | Liver | Healthy |
| BMP5 | BMPR1B_ACVR2A | BMP5_BMPR1B_ACVR2A | BMP | Liver | Healthy |
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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 |
| ACVR2A | SNV | Missense_Mutation | c.923C>G | p.Pro308Arg | p.P308R | P27037 | protein_coding | deleterious(0) | probably_damaging(0.978) | TCGA-A2-A0EQ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD | |
| ACVR2A | SNV | Missense_Mutation | novel | c.74N>T | p.Ser25Leu | p.S25L | P27037 | protein_coding | tolerated(0.3) | benign(0) | TCGA-AC-A6IW-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| ACVR2A | SNV | Missense_Mutation | c.1392C>G | p.His464Gln | p.H464Q | P27037 | protein_coding | tolerated(0.13) | benign(0.245) | TCGA-AQ-A54N-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
| ACVR2A | SNV | Missense_Mutation | c.439C>G | p.Leu147Val | p.L147V | P27037 | protein_coding | tolerated(0.27) | benign(0) | TCGA-BH-A0HB-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | docetaxel | SD | |
| ACVR2A | SNV | Missense_Mutation | c.572N>T | p.Pro191Leu | p.P191L | P27037 | protein_coding | deleterious(0.02) | possibly_damaging(0.533) | TCGA-BH-A0HF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD | |
| ACVR2A | SNV | Missense_Mutation | c.845A>T | p.Asn282Ile | p.N282I | P27037 | protein_coding | deleterious(0) | probably_damaging(0.981) | TCGA-BH-A1F2-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD | |
| ACVR2A | SNV | Missense_Mutation | novel | c.520C>G | p.Pro174Ala | p.P174A | P27037 | protein_coding | deleterious(0.01) | benign(0.003) | TCGA-E2-A574-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
| ACVR2A | SNV | Missense_Mutation | c.373N>T | p.Pro125Ser | p.P125S | P27037 | protein_coding | tolerated(0.22) | benign(0.006) | TCGA-GM-A3NY-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD | |
| ACVR2A | insertion | Frame_Shift_Ins | novel | c.467_468insTC | p.Ala157LeufsTer32 | p.A157Lfs*32 | P27037 | protein_coding | TCGA-A8-A06X-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | ||
| ACVR2A | insertion | Nonsense_Mutation | novel | c.469_470insCTTTCACTTAGCATAATGTTTGAGATTCATC | p.Trp159ThrfsTer2 | p.W159Tfs*2 | P27037 | protein_coding | TCGA-A8-A06X-01 | Breast | breast invasive carcinoma | Female | >=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 |
| 92 | ACVR2A | DRUGGABLE GENOME, SERINE THREONINE KINASE, KINASE, CELL SURFACE | BYM338 | BIMAGRUMAB | ||
| 92 | ACVR2A | DRUGGABLE GENOME, SERINE THREONINE KINASE, KINASE, CELL SURFACE | ACE-011 | SOTATERCEPT | ||
| 92 | ACVR2A | DRUGGABLE GENOME, SERINE THREONINE KINASE, KINASE, CELL SURFACE | antibody | 249565766 | BIMAGRUMAB |
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