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Gene: ACVR1B |
Gene summary for ACVR1B |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | ACVR1B | Gene ID | 91 |
| Gene name | activin A receptor type 1B | |
| Gene Alias | ACTRIB | |
| Cytomap | 12q13.13 | |
| Gene Type | protein-coding | GO ID | GO:0000003 | UniProtAcc | P36896 |
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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 |
| 91 | ACVR1B | HTA11_347_2000001011 | Human | Colorectum | AD | 2.66e-22 | 7.87e-01 | -0.1954 |
| 91 | ACVR1B | HTA11_696_2000001011 | Human | Colorectum | AD | 2.25e-03 | 3.86e-01 | -0.1464 |
| 91 | ACVR1B | HTA11_1391_2000001011 | Human | Colorectum | AD | 7.81e-03 | 3.79e-01 | -0.059 |
| 91 | ACVR1B | A015-C-203 | Human | Colorectum | FAP | 5.60e-16 | -3.65e-01 | -0.1294 |
| 91 | ACVR1B | A015-C-204 | Human | Colorectum | FAP | 1.08e-03 | -2.63e-01 | -0.0228 |
| 91 | ACVR1B | A002-C-201 | Human | Colorectum | FAP | 1.21e-09 | -2.81e-01 | 0.0324 |
| 91 | ACVR1B | A002-C-203 | Human | Colorectum | FAP | 2.30e-02 | -5.42e-02 | 0.2786 |
| 91 | ACVR1B | A001-C-119 | Human | Colorectum | FAP | 5.59e-08 | -3.74e-01 | -0.1557 |
| 91 | ACVR1B | A001-C-108 | Human | Colorectum | FAP | 2.88e-06 | -2.61e-01 | -0.0272 |
| 91 | ACVR1B | A002-C-205 | Human | Colorectum | FAP | 7.65e-17 | -3.84e-01 | -0.1236 |
| 91 | ACVR1B | A001-C-104 | Human | Colorectum | FAP | 2.12e-02 | -1.76e-01 | 0.0184 |
| 91 | ACVR1B | A015-C-006 | Human | Colorectum | FAP | 3.84e-11 | -4.01e-01 | -0.0994 |
| 91 | ACVR1B | A015-C-106 | Human | Colorectum | FAP | 3.92e-07 | -2.60e-01 | -0.0511 |
| 91 | ACVR1B | A002-C-114 | Human | Colorectum | FAP | 2.50e-13 | -3.20e-01 | -0.1561 |
| 91 | ACVR1B | A015-C-104 | Human | Colorectum | FAP | 4.64e-19 | -4.22e-01 | -0.1899 |
| 91 | ACVR1B | A001-C-014 | Human | Colorectum | FAP | 2.77e-09 | -2.54e-01 | 0.0135 |
| 91 | ACVR1B | A002-C-016 | Human | Colorectum | FAP | 1.58e-18 | -3.06e-01 | 0.0521 |
| 91 | ACVR1B | A015-C-002 | Human | Colorectum | FAP | 1.12e-07 | -3.19e-01 | -0.0763 |
| 91 | ACVR1B | A001-C-203 | Human | Colorectum | FAP | 2.05e-06 | -2.27e-01 | -0.0481 |
| 91 | ACVR1B | A002-C-116 | Human | Colorectum | FAP | 2.58e-25 | -4.08e-01 | -0.0452 |
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| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| 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 | ||
| Esophagus |  | ESCC: Esophageal squamous cell carcinoma |
| HGIN: High-grade intraepithelial neoplasias | ||
| LGIN: Low-grade intraepithelial neoplasias | ||
| 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:0034101 | Colorectum | AD | erythrocyte homeostasis | 51/3918 | 129/18723 | 1.07e-06 | 3.59e-05 | 51 |
| GO:0030099 | Colorectum | AD | myeloid cell differentiation | 119/3918 | 381/18723 | 1.24e-06 | 4.01e-05 | 119 |
| GO:0016049 | Colorectum | AD | cell growth | 143/3918 | 482/18723 | 2.83e-06 | 8.09e-05 | 143 |
| GO:0002262 | Colorectum | AD | myeloid cell homeostasis | 57/3918 | 157/18723 | 6.17e-06 | 1.56e-04 | 57 |
| GO:0001558 | Colorectum | AD | regulation of cell growth | 124/3918 | 414/18723 | 7.67e-06 | 1.86e-04 | 124 |
| GO:0048872 | Colorectum | AD | homeostasis of number of cells | 87/3918 | 272/18723 | 1.16e-05 | 2.61e-04 | 87 |
| GO:0001667 | Colorectum | AD | ameboidal-type cell migration | 137/3918 | 475/18723 | 2.17e-05 | 4.33e-04 | 137 |
| GO:0030218 | Colorectum | AD | erythrocyte differentiation | 45/3918 | 120/18723 | 2.22e-05 | 4.39e-04 | 45 |
| GO:0001701 | Colorectum | AD | in utero embryonic development | 110/3918 | 367/18723 | 2.36e-05 | 4.62e-04 | 110 |
| GO:0046777 | Colorectum | AD | protein autophosphorylation | 74/3918 | 227/18723 | 2.48e-05 | 4.76e-04 | 74 |
| GO:0097191 | Colorectum | AD | extrinsic apoptotic signaling pathway | 68/3918 | 219/18723 | 2.64e-04 | 3.27e-03 | 68 |
| GO:0045646 | Colorectum | AD | regulation of erythrocyte differentiation | 20/3918 | 47/18723 | 6.54e-04 | 6.75e-03 | 20 |
| GO:0007178 | Colorectum | AD | transmembrane receptor protein serine/threonine kinase signaling pathway | 99/3918 | 355/18723 | 9.92e-04 | 9.28e-03 | 99 |
| GO:0018210 | Colorectum | AD | peptidyl-threonine modification | 40/3918 | 125/18723 | 2.44e-03 | 1.88e-02 | 40 |
| GO:1903706 | Colorectum | AD | regulation of hemopoiesis | 99/3918 | 367/18723 | 3.08e-03 | 2.28e-02 | 99 |
| GO:0045637 | Colorectum | AD | regulation of myeloid cell differentiation | 61/3918 | 210/18723 | 3.17e-03 | 2.35e-02 | 61 |
| GO:0018107 | Colorectum | AD | peptidyl-threonine phosphorylation | 37/3918 | 116/18723 | 3.68e-03 | 2.61e-02 | 37 |
| GO:0045926 | Colorectum | AD | negative regulation of growth | 70/3918 | 249/18723 | 4.07e-03 | 2.83e-02 | 70 |
| GO:0008544 | Colorectum | AD | epidermis development | 87/3918 | 324/18723 | 5.99e-03 | 3.76e-02 | 87 |
| GO:00160493 | Colorectum | FAP | cell growth | 112/2622 | 482/18723 | 2.40e-08 | 2.30e-06 | 112 |
| Page: 1 2 3 4 5 6 7 |
| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| hsa043507 | Esophagus | ESCC | TGF-beta signaling pathway | 69/4205 | 108/8465 | 1.92e-03 | 5.54e-03 | 2.84e-03 | 69 |
| hsa0435014 | Esophagus | ESCC | TGF-beta signaling pathway | 69/4205 | 108/8465 | 1.92e-03 | 5.54e-03 | 2.84e-03 | 69 |
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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 |
| INHBA | ACVR1B_ACVR2A | INHBA_ACVR1B_ACVR2A | ACTIVIN | Cervix | CC |
| INHBB | ACVR1B_ACVR2A | INHBB_ACVR1B_ACVR2A | ACTIVIN | Cervix | CC |
| TGFB1 | ACVR1B_TGFbR2 | TGFB1_ACVR1B_TGFBR2 | TGFb | CRC | AD |
| TGFB1 | ACVR1B_TGFbR2 | TGFB1_ACVR1B_TGFBR2 | TGFb | CRC | CRC |
| TGFB1 | ACVR1B_TGFbR2 | TGFB1_ACVR1B_TGFBR2 | TGFb | CRC | MSI-H |
| INHBB | ACVR1B_ACVR2A | INHBB_ACVR1B_ACVR2A | ACTIVIN | CRC | MSI-H |
| INHBB | ACVR1B_ACVR2B | INHBB_ACVR1B_ACVR2B | ACTIVIN | CRC | MSI-H |
| TGFB1 | ACVR1B_TGFbR2 | TGFB1_ACVR1B_TGFBR2 | TGFb | Endometrium | AEH |
| TGFB1 | ACVR1B_TGFbR2 | TGFB1_ACVR1B_TGFBR2 | TGFb | Liver | Healthy |
| INHBC | ACVR1B_ACVR2A | INHBC_ACVR1B_ACVR2A | ACTIVIN | Liver | Healthy |
| INHBC | ACVR1B_ACVR2B | INHBC_ACVR1B_ACVR2B | ACTIVIN | Liver | Healthy |
| TGFB1 | ACVR1B_TGFbR2 | TGFB1_ACVR1B_TGFBR2 | TGFb | Liver | Precancer |
| TGFB1 | ACVR1B_TGFbR2 | TGFB1_ACVR1B_TGFBR2 | TGFb | THCA | Cancer |
| TGFB2 | ACVR1B_TGFbR2 | TGFB2_ACVR1B_TGFBR2 | TGFb | THCA | Cancer |
| TGFB3 | ACVR1B_TGFbR2 | TGFB3_ACVR1B_TGFBR2 | TGFb | THCA | Cancer |
| INHBA | ACVR1B_ACVR2A | INHBA_ACVR1B_ACVR2A | ACTIVIN | THCA | Cancer |
| INHBB | ACVR1B_ACVR2A | INHBB_ACVR1B_ACVR2A | ACTIVIN | THCA | Cancer |
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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 |
| ACVR1B | SNV | Missense_Mutation | c.804N>G | p.Asp268Glu | p.D268E | P36896 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-A2-A04R-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxol | SD | |
| ACVR1B | SNV | Missense_Mutation | c.1550N>A | p.Cys517Tyr | p.C517Y | P36896 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-A8-A08T-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | PD | |
| ACVR1B | SNV | Missense_Mutation | rs534565647 | c.1021N>G | p.Thr341Ala | p.T341A | P36896 | protein_coding | deleterious(0.01) | benign(0.287) | TCGA-D8-A13Y-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
| ACVR1B | SNV | Missense_Mutation | c.1035N>T | p.Met345Ile | p.M345I | P36896 | protein_coding | deleterious(0.02) | benign(0.373) | TCGA-E2-A159-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD | |
| ACVR1B | SNV | Missense_Mutation | c.1359N>C | p.Glu453Asp | p.E453D | P36896 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-E2-A159-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD | |
| ACVR1B | SNV | Missense_Mutation | novel | c.1430C>G | p.Ser477Cys | p.S477C | P36896 | protein_coding | deleterious(0) | possibly_damaging(0.463) | TCGA-OL-A6VQ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| ACVR1B | insertion | Frame_Shift_Ins | novel | c.51_52insGATTGGAAACCACTTAGACGGACTGGGTGGGGTGTGC | p.Leu18AspfsTer42 | p.L18Dfs*42 | P36896 | protein_coding | TCGA-AN-A04C-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | ||
| ACVR1B | insertion | Nonsense_Mutation | novel | c.271_272insTGTAAGTACACGCTGTGAGGTTCACACA | p.Arg91LeufsTer2 | p.R91Lfs*2 | P36896 | protein_coding | TCGA-BH-A0HF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD | ||
| ACVR1B | insertion | Frame_Shift_Ins | novel | c.1570_1571insGTCTTAAGAGTGTTCAGGGGAACAGGCTT | p.Ala524GlyfsTer13 | p.A524Gfs*13 | P36896 | protein_coding | TCGA-BH-A0HK-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD | ||
| ACVR1B | SNV | Missense_Mutation | rs753911333 | c.1367N>A | p.Arg456Gln | p.R456Q | P36896 | protein_coding | deleterious(0) | possibly_damaging(0.526) | TCGA-DS-A1OB-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | carboplatin | PD |
| Page: 1 2 3 4 5 6 7 8 9 10 11 |
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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 |
| 91 | ACVR1B | SERINE THREONINE KINASE, CELL SURFACE, KINASE, ENZYME, DRUGGABLE GENOME, CLINICALLY ACTIONABLE | inhibitor | 249565824 | ||
| 91 | ACVR1B | SERINE THREONINE KINASE, CELL SURFACE, KINASE, ENZYME, DRUGGABLE GENOME, CLINICALLY ACTIONABLE | inhibitor | 249565787 | VACTOSERTIB | |
| 91 | ACVR1B | SERINE THREONINE KINASE, CELL SURFACE, KINASE, ENZYME, DRUGGABLE GENOME, CLINICALLY ACTIONABLE | inhibitor | 223366128 | GALUNISERTIB | |
| 91 | ACVR1B | SERINE THREONINE KINASE, CELL SURFACE, KINASE, ENZYME, DRUGGABLE GENOME, CLINICALLY ACTIONABLE | US10030004, Compound 11a | |||
| 91 | ACVR1B | SERINE THREONINE KINASE, CELL SURFACE, KINASE, ENZYME, DRUGGABLE GENOME, CLINICALLY ACTIONABLE | inhibitor | 404859109 | ||
| 91 | ACVR1B | SERINE THREONINE KINASE, CELL SURFACE, KINASE, ENZYME, DRUGGABLE GENOME, CLINICALLY ACTIONABLE | US10030004, Compound 19 | |||
| 91 | ACVR1B | SERINE THREONINE KINASE, CELL SURFACE, KINASE, ENZYME, DRUGGABLE GENOME, CLINICALLY ACTIONABLE | BDBM108945 | |||
| 91 | ACVR1B | SERINE THREONINE KINASE, CELL SURFACE, KINASE, ENZYME, DRUGGABLE GENOME, CLINICALLY ACTIONABLE | US9682983, 1 | |||
| 91 | ACVR1B | SERINE THREONINE KINASE, CELL SURFACE, KINASE, ENZYME, DRUGGABLE GENOME, CLINICALLY ACTIONABLE | US10030004, Compound 33 | |||
| 91 | ACVR1B | SERINE THREONINE KINASE, CELL SURFACE, KINASE, ENZYME, DRUGGABLE GENOME, CLINICALLY ACTIONABLE | inhibitor | 249565800 |
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