Tissue | Expression Dynamics | Abbreviation |
Esophagus | ![The image shows the transcriptomic changes along malignancy continuum.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.](images/deg_images/Esophagus/ACVR1_pca_on_diff_genes.png) | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
Oral Cavity | ![The image shows the transcriptomic changes along malignancy continuum.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.](images/deg_images/OralCavity/ACVR1_pca_on_diff_genes.png) | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
Thyroid | ![The image shows the transcriptomic changes along malignancy continuum.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.](images/deg_images/Thyroid/ACVR1_pca_on_diff_genes.png) | ATC: Anaplastic thyroid cancer |
HT: Hashimoto's thyroiditis |
PTC: Papillary thyroid cancer |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:000170132 | Oral cavity | NEOLP | in utero embryonic development | 76/2005 | 367/18723 | 1.11e-08 | 5.44e-07 | 76 |
GO:000150331 | Oral cavity | NEOLP | ossification | 81/2005 | 408/18723 | 2.67e-08 | 1.15e-06 | 81 |
GO:000717923 | Oral cavity | NEOLP | transforming growth factor beta receptor signaling pathway | 48/2005 | 198/18723 | 4.01e-08 | 1.66e-06 | 48 |
GO:000717822 | Oral cavity | NEOLP | transmembrane receptor protein serine/threonine kinase signaling pathway | 70/2005 | 355/18723 | 3.04e-07 | 9.62e-06 | 70 |
GO:006053723 | Oral cavity | NEOLP | muscle tissue development | 75/2005 | 403/18723 | 1.22e-06 | 3.15e-05 | 75 |
GO:200123731 | Oral cavity | NEOLP | negative regulation of extrinsic apoptotic signaling pathway | 27/2005 | 97/18723 | 2.22e-06 | 5.13e-05 | 27 |
GO:004269221 | Oral cavity | NEOLP | muscle cell differentiation | 71/2005 | 384/18723 | 2.97e-06 | 6.76e-05 | 71 |
GO:000315823 | Oral cavity | NEOLP | endothelium development | 33/2005 | 136/18723 | 4.94e-06 | 1.04e-04 | 33 |
GO:00901011 | Oral cavity | NEOLP | negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway | 32/2005 | 131/18723 | 5.88e-06 | 1.19e-04 | 32 |
GO:000183714 | Oral cavity | NEOLP | epithelial to mesenchymal transition | 36/2005 | 157/18723 | 7.50e-06 | 1.48e-04 | 36 |
GO:000164931 | Oral cavity | NEOLP | osteoblast differentiation | 47/2005 | 229/18723 | 8.59e-06 | 1.66e-04 | 47 |
GO:001470621 | Oral cavity | NEOLP | striated muscle tissue development | 69/2005 | 384/18723 | 1.11e-05 | 2.06e-04 | 69 |
GO:001810722 | Oral cavity | NEOLP | peptidyl-threonine phosphorylation | 28/2005 | 116/18723 | 2.78e-05 | 4.31e-04 | 28 |
GO:00030074 | Oral cavity | NEOLP | heart morphogenesis | 48/2005 | 246/18723 | 2.80e-05 | 4.32e-04 | 48 |
GO:009009213 | Oral cavity | NEOLP | regulation of transmembrane receptor protein serine/threonine kinase signaling pathway | 49/2005 | 256/18723 | 3.90e-05 | 5.62e-04 | 49 |
GO:00604855 | Oral cavity | NEOLP | mesenchyme development | 54/2005 | 291/18723 | 3.95e-05 | 5.62e-04 | 54 |
GO:004876214 | Oral cavity | NEOLP | mesenchymal cell differentiation | 46/2005 | 236/18723 | 4.18e-05 | 5.92e-04 | 46 |
GO:001821022 | Oral cavity | NEOLP | peptidyl-threonine modification | 29/2005 | 125/18723 | 4.43e-05 | 6.20e-04 | 29 |
GO:000736921 | Oral cavity | NEOLP | gastrulation | 38/2005 | 185/18723 | 5.90e-05 | 7.93e-04 | 38 |
GO:000170421 | Oral cavity | NEOLP | formation of primary germ layer | 28/2005 | 121/18723 | 6.25e-05 | 8.31e-04 | 28 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa05418211 | Esophagus | ESCC | Fluid shear stress and atherosclerosis | 109/4205 | 139/8465 | 2.00e-12 | 3.72e-11 | 1.90e-11 | 109 |
hsa043507 | Esophagus | ESCC | TGF-beta signaling pathway | 69/4205 | 108/8465 | 1.92e-03 | 5.54e-03 | 2.84e-03 | 69 |
hsa05418310 | Esophagus | ESCC | Fluid shear stress and atherosclerosis | 109/4205 | 139/8465 | 2.00e-12 | 3.72e-11 | 1.90e-11 | 109 |
hsa0435014 | Esophagus | ESCC | TGF-beta signaling pathway | 69/4205 | 108/8465 | 1.92e-03 | 5.54e-03 | 2.84e-03 | 69 |
hsa0541830 | Oral cavity | OSCC | Fluid shear stress and atherosclerosis | 92/3704 | 139/8465 | 6.51e-08 | 4.84e-07 | 2.47e-07 | 92 |
hsa043506 | Oral cavity | OSCC | TGF-beta signaling pathway | 60/3704 | 108/8465 | 8.66e-03 | 1.97e-02 | 1.00e-02 | 60 |
hsa05418114 | Oral cavity | OSCC | Fluid shear stress and atherosclerosis | 92/3704 | 139/8465 | 6.51e-08 | 4.84e-07 | 2.47e-07 | 92 |
hsa0435013 | Oral cavity | OSCC | TGF-beta signaling pathway | 60/3704 | 108/8465 | 8.66e-03 | 1.97e-02 | 1.00e-02 | 60 |
hsa0541846 | Oral cavity | EOLP | Fluid shear stress and atherosclerosis | 41/1218 | 139/8465 | 2.95e-06 | 2.16e-05 | 1.28e-05 | 41 |
hsa0541856 | Oral cavity | EOLP | Fluid shear stress and atherosclerosis | 41/1218 | 139/8465 | 2.95e-06 | 2.16e-05 | 1.28e-05 | 41 |
hsa0541863 | Oral cavity | NEOLP | Fluid shear stress and atherosclerosis | 40/1112 | 139/8465 | 7.44e-07 | 9.10e-06 | 5.72e-06 | 40 |
hsa0541873 | Oral cavity | NEOLP | Fluid shear stress and atherosclerosis | 40/1112 | 139/8465 | 7.44e-07 | 9.10e-06 | 5.72e-06 | 40 |
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 |
ACVR1 | SNV | Missense_Mutation | rs370028017 | c.193N>A | p.Val65Ile | p.V65I | Q04771 | protein_coding | tolerated(0.21) | benign(0.005) | TCGA-A2-A0D0-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
ACVR1 | SNV | Missense_Mutation | novel | c.1270G>A | p.Val424Met | p.V424M | Q04771 | protein_coding | tolerated(0.07) | probably_damaging(0.973) | TCGA-LL-A441-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | CR |
ACVR1 | insertion | In_Frame_Ins | novel | c.260_261insGGATTGCTGCCCTTCATGTGAGTTACAATGTCATGCATG | p.Pro87_Gly88insAspCysCysProSerCysGluLeuGlnCysHisAlaCys | p.P87_G88insDCCPSCELQCHAC | Q04771 | protein_coding | | | TCGA-A8-A07J-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | 5-fluorouracil | CR |
ACVR1 | insertion | Nonsense_Mutation | novel | c.355_356insTAAGGACATTTCATTTCAAAAAGTAGAGAAATACAATTTTTT | p.Asn119delinsIleArgThrPheHisPheLysLysTerArgAsnThrIlePheTyr | p.N119delinsIRTFHFKK*RNTIFY | Q04771 | protein_coding | | | TCGA-AR-A0TY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Paclitaxel | PD |
ACVR1 | SNV | Missense_Mutation | novel | c.987N>C | p.Lys329Asn | p.K329N | Q04771 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-A6-3808-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
ACVR1 | SNV | Missense_Mutation | | c.895N>G | p.Thr299Ala | p.T299A | Q04771 | protein_coding | tolerated(0.22) | benign(0.006) | TCGA-AA-3492-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ACVR1 | SNV | Missense_Mutation | | c.433N>A | p.Ala145Thr | p.A145T | Q04771 | protein_coding | tolerated(0.4) | benign(0.039) | TCGA-AA-3852-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
ACVR1 | SNV | Missense_Mutation | novel | c.1411G>T | p.Ala471Ser | p.A471S | Q04771 | protein_coding | tolerated(0.42) | benign(0.289) | TCGA-AA-3949-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
ACVR1 | SNV | Missense_Mutation | novel | c.548N>C | p.Leu183Ser | p.L183S | Q04771 | protein_coding | deleterious(0.01) | benign(0.307) | TCGA-CA-6717-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Chemotherapy | oxaliplatin | CR |
ACVR1 | SNV | Missense_Mutation | | c.869C>T | p.Ser290Leu | p.S290L | Q04771 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-D5-6530-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
90 | ACVR1 | DRUGGABLE GENOME, ENZYME, KINASE, SERINE THREONINE KINASE | | OSI-632 | OSI-632 | |
90 | ACVR1 | DRUGGABLE GENOME, ENZYME, KINASE, SERINE THREONINE KINASE | | MEK-1/MEKK-1 INHIBITOR E6201 | | 32142668 |
90 | ACVR1 | DRUGGABLE GENOME, ENZYME, KINASE, SERINE THREONINE KINASE | inhibitor | 249565824 | | |
90 | ACVR1 | DRUGGABLE GENOME, ENZYME, KINASE, SERINE THREONINE KINASE | | 681640 | CHEMBL379975 | |
90 | ACVR1 | DRUGGABLE GENOME, ENZYME, KINASE, SERINE THREONINE KINASE | | AG-1879 | CHEMBL406845 | |
90 | ACVR1 | DRUGGABLE GENOME, ENZYME, KINASE, SERINE THREONINE KINASE | | TANDUTINIB | TANDUTINIB | |
90 | ACVR1 | DRUGGABLE GENOME, ENZYME, KINASE, SERINE THREONINE KINASE | | VANDETANIB | VANDETANIB | |
90 | ACVR1 | DRUGGABLE GENOME, ENZYME, KINASE, SERINE THREONINE KINASE | inhibitor | 404859109 | | |
90 | ACVR1 | DRUGGABLE GENOME, ENZYME, KINASE, SERINE THREONINE KINASE | | ALK2 INHIBITOR LDN-193189 | | 24705252 |
90 | ACVR1 | DRUGGABLE GENOME, ENZYME, KINASE, SERINE THREONINE KINASE | inhibitor | 252166689 | | |