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Gene: ACVR2B |
Gene summary for ACVR2B |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | ACVR2B | Gene ID | 93 |
| Gene name | activin A receptor type 2B | |
| Gene Alias | ACTRIIB | |
| Cytomap | 3p22.2 | |
| Gene Type | protein-coding | GO ID | GO:0000122 | UniProtAcc | Q13705 |
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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 |
| 93 | ACVR2B | HCC1_Meng | Human | Liver | HCC | 6.55e-46 | 1.09e-01 | 0.0246 |
| 93 | ACVR2B | cirrhotic3 | Human | Liver | Cirrhotic | 7.74e-04 | 1.48e-01 | 0.0215 |
| 93 | ACVR2B | S014 | Human | Liver | HCC | 1.42e-13 | 5.62e-01 | 0.2254 |
| 93 | ACVR2B | S015 | Human | Liver | HCC | 1.35e-11 | 7.17e-01 | 0.2375 |
| 93 | ACVR2B | S016 | Human | Liver | HCC | 6.71e-13 | 4.58e-01 | 0.2243 |
| 93 | ACVR2B | S028 | Human | Liver | HCC | 8.81e-09 | 3.60e-01 | 0.2503 |
| 93 | ACVR2B | S029 | Human | Liver | HCC | 4.92e-02 | 2.43e-01 | 0.2581 |
| Page: 1 |
| 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 |
| GO:00016495 | Liver | Cirrhotic | osteoblast differentiation | 80/4634 | 229/18723 | 3.39e-04 | 2.91e-03 | 80 |
| GO:00015035 | Liver | Cirrhotic | ossification | 127/4634 | 408/18723 | 1.89e-03 | 1.19e-02 | 127 |
| GO:00031586 | Liver | Cirrhotic | endothelium development | 49/4634 | 136/18723 | 2.14e-03 | 1.32e-02 | 49 |
| GO:00487711 | Liver | Cirrhotic | tissue remodeling | 60/4634 | 175/18723 | 2.86e-03 | 1.65e-02 | 60 |
| GO:000717811 | Liver | Cirrhotic | transmembrane receptor protein serine/threonine kinase signaling pathway | 111/4634 | 355/18723 | 2.98e-03 | 1.70e-02 | 111 |
| GO:00454465 | Liver | Cirrhotic | endothelial cell differentiation | 43/4634 | 118/18723 | 3.03e-03 | 1.72e-02 | 43 |
| GO:010610611 | Liver | HCC | cold-induced thermogenesis | 76/7958 | 144/18723 | 8.07e-03 | 3.18e-02 | 76 |
| GO:012016111 | Liver | HCC | regulation of cold-induced thermogenesis | 76/7958 | 144/18723 | 8.07e-03 | 3.18e-02 | 76 |
| GO:000164911 | Liver | HCC | osteoblast differentiation | 115/7958 | 229/18723 | 1.08e-02 | 3.99e-02 | 115 |
| GO:199084511 | Liver | HCC | adaptive thermogenesis | 81/7958 | 157/18723 | 1.32e-02 | 4.72e-02 | 81 |
| Page: 1 |
| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| hsa0541822 | Liver | Cirrhotic | Fluid shear stress and atherosclerosis | 62/2530 | 139/8465 | 1.53e-04 | 1.06e-03 | 6.54e-04 | 62 |
| hsa0541832 | Liver | Cirrhotic | Fluid shear stress and atherosclerosis | 62/2530 | 139/8465 | 1.53e-04 | 1.06e-03 | 6.54e-04 | 62 |
| hsa0541842 | Liver | HCC | Fluid shear stress and atherosclerosis | 89/4020 | 139/8465 | 5.58e-05 | 2.88e-04 | 1.60e-04 | 89 |
| hsa0541852 | Liver | HCC | Fluid shear stress and atherosclerosis | 89/4020 | 139/8465 | 5.58e-05 | 2.88e-04 | 1.60e-04 | 89 |
| 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 |
| BMP4 | BMPR1A_ACVR2B | BMP4_BMPR1A_ACVR2B | BMP | CRC | MSI-H |
| BMP6 | ACVR1_ACVR2B | BMP6_ACVR1_ACVR2B | BMP | CRC | MSI-H |
| BMP6 | BMPR1A_ACVR2B | BMP6_BMPR1A_ACVR2B | BMP | CRC | MSI-H |
| INHBB | ACVR1B_ACVR2B | INHBB_ACVR1B_ACVR2B | ACTIVIN | CRC | MSI-H |
| GDF7 | BMPR1B_ACVR2B | GDF7_BMPR1B_ACVR2B | BMP | Endometrium | Healthy |
| BMP2 | BMPR1A_ACVR2B | BMP2_BMPR1A_ACVR2B | BMP | Esophagus | ESCC |
| BMP4 | BMPR1A_ACVR2B | BMP4_BMPR1A_ACVR2B | BMP | Esophagus | ESCC |
| GDF6 | BMPR1A_ACVR2B | GDF6_BMPR1A_ACVR2B | BMP | Esophagus | ESCC |
| BMP7 | BMPR1A_ACVR2B | BMP7_BMPR1A_ACVR2B | BMP | Esophagus | ESCC |
| BMP5 | ACVR1_ACVR2B | BMP5_ACVR1_ACVR2B | BMP | Liver | Healthy |
| BMP5 | BMPR1A_ACVR2B | BMP5_BMPR1A_ACVR2B | BMP | Liver | Healthy |
| BMP5 | BMPR1B_ACVR2B | BMP5_BMPR1B_ACVR2B | BMP | Liver | Healthy |
| BMP6 | ACVR1_ACVR2B | BMP6_ACVR1_ACVR2B | BMP | Liver | Healthy |
| BMP6 | BMPR1A_ACVR2B | BMP6_BMPR1A_ACVR2B | BMP | Liver | Healthy |
| BMP6 | BMPR1B_ACVR2B | BMP6_BMPR1B_ACVR2B | BMP | Liver | Healthy |
| INHBC | ACVR1B_ACVR2B | INHBC_ACVR1B_ACVR2B | ACTIVIN | Liver | Healthy |
| 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 |
| ACVR2B | SNV | Missense_Mutation | rs753089562 | c.341N>T | p.Thr114Ile | p.T114I | Q13705 | protein_coding | tolerated(0.31) | benign(0.091) | TCGA-B6-A0I2-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| ACVR2B | insertion | In_Frame_Ins | novel | c.339_340insTTCACG | p.Phe113_Thr114insPheThr | p.F113_T114insFT | Q13705 | protein_coding | TCGA-A8-A09T-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | anastrozole | SD | ||
| ACVR2B | insertion | Frame_Shift_Ins | novel | c.881_882insACTCTGCCCCGGTAGCACTATCCACTATGGGGTTACTCCTGCCATAG | p.Met294IlefsTer52 | p.M294Ifs*52 | Q13705 | protein_coding | TCGA-AO-A0J9-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cyclophosphamide | PD | ||
| ACVR2B | insertion | Frame_Shift_Ins | novel | c.555_556insAGCACCA | p.Gly186SerfsTer29 | p.G186Sfs*29 | Q13705 | protein_coding | TCGA-AR-A0TY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Paclitaxel | PD | ||
| ACVR2B | insertion | In_Frame_Ins | novel | c.557_558insTGTGGTTGCTGGGTGTAGAAAGGACACTTACAGGGT | p.Gly186_Leu187insValValAlaGlyCysArgLysAspThrTyrArgVal | p.G186_L187insVVAGCRKDTYRV | Q13705 | protein_coding | TCGA-AR-A0TY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Paclitaxel | PD | ||
| ACVR2B | SNV | Missense_Mutation | c.716N>C | p.Met239Thr | p.M239T | Q13705 | protein_coding | deleterious(0) | probably_damaging(0.971) | TCGA-A6-3809-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| ACVR2B | SNV | Missense_Mutation | c.1396N>A | p.Glu466Lys | p.E466K | Q13705 | protein_coding | deleterious(0) | possibly_damaging(0.816) | TCGA-AA-3492-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| ACVR2B | SNV | Missense_Mutation | novel | c.269G>A | p.Cys90Tyr | p.C90Y | Q13705 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-AA-3949-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
| ACVR2B | SNV | Missense_Mutation | rs765853980 | c.134G>A | p.Gly45Asp | p.G45D | Q13705 | protein_coding | deleterious(0.01) | possibly_damaging(0.833) | TCGA-AA-3966-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| ACVR2B | SNV | Missense_Mutation | c.1158G>T | p.Met386Ile | p.M386I | Q13705 | protein_coding | deleterious(0.03) | benign(0.041) | TCGA-AA-A010-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Chemotherapy | folinic | CR |
| Page: 1 2 3 4 5 6 |
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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 |
| 93 | ACVR2B | KINASE, SERINE THREONINE KINASE, DRUGGABLE GENOME, ENZYME | antagonist | CHEMBL3137353 | BIMAGRUMAB | |
| 93 | ACVR2B | KINASE, SERINE THREONINE KINASE, DRUGGABLE GENOME, ENZYME | antibody | 249565766 | BIMAGRUMAB | |
| 93 | ACVR2B | KINASE, SERINE THREONINE KINASE, DRUGGABLE GENOME, ENZYME | ACE-031 | RAMATERCEPT |
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