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:0090100 | Colorectum | CRC | positive regulation of transmembrane receptor protein serine/threonine kinase signaling pathway | 22/2078 | 114/18723 | 6.73e-03 | 4.77e-02 | 22 |
GO:2001233111 | Esophagus | ESCC | regulation of apoptotic signaling pathway | 256/8552 | 356/18723 | 4.11e-24 | 1.04e-21 | 256 |
GO:004477216 | Esophagus | ESCC | mitotic cell cycle phase transition | 281/8552 | 424/18723 | 4.63e-18 | 4.45e-16 | 281 |
GO:0097191111 | Esophagus | ESCC | extrinsic apoptotic signaling pathway | 159/8552 | 219/18723 | 4.12e-16 | 2.94e-14 | 159 |
GO:000170119 | Esophagus | ESCC | in utero embryonic development | 243/8552 | 367/18723 | 1.00e-15 | 6.86e-14 | 243 |
GO:2001234111 | Esophagus | ESCC | negative regulation of apoptotic signaling pathway | 161/8552 | 224/18723 | 1.24e-15 | 8.09e-14 | 161 |
GO:2001236111 | Esophagus | ESCC | regulation of extrinsic apoptotic signaling pathway | 111/8552 | 151/18723 | 2.97e-12 | 1.18e-10 | 111 |
GO:0016049110 | Esophagus | ESCC | cell growth | 289/8552 | 482/18723 | 1.29e-10 | 3.77e-09 | 289 |
GO:0030099111 | Esophagus | ESCC | myeloid cell differentiation | 232/8552 | 381/18723 | 1.22e-09 | 2.90e-08 | 232 |
GO:000155819 | Esophagus | ESCC | regulation of cell growth | 248/8552 | 414/18723 | 2.97e-09 | 6.45e-08 | 248 |
GO:00435888 | Esophagus | ESCC | skin development | 163/8552 | 263/18723 | 6.48e-08 | 1.14e-06 | 163 |
GO:0002262111 | Esophagus | ESCC | myeloid cell homeostasis | 104/8552 | 157/18723 | 1.49e-07 | 2.36e-06 | 104 |
GO:0034101111 | Esophagus | ESCC | erythrocyte homeostasis | 88/8552 | 129/18723 | 1.81e-07 | 2.84e-06 | 88 |
GO:000854410 | Esophagus | ESCC | epidermis development | 193/8552 | 324/18723 | 2.87e-07 | 4.19e-06 | 193 |
GO:00715599 | Esophagus | ESCC | response to transforming growth factor beta | 157/8552 | 256/18723 | 2.95e-07 | 4.23e-06 | 157 |
GO:2001237111 | Esophagus | ESCC | negative regulation of extrinsic apoptotic signaling pathway | 69/8552 | 97/18723 | 3.23e-07 | 4.55e-06 | 69 |
GO:000008214 | Esophagus | ESCC | G1/S transition of mitotic cell cycle | 134/8552 | 214/18723 | 4.04e-07 | 5.55e-06 | 134 |
GO:004484314 | Esophagus | ESCC | cell cycle G1/S phase transition | 148/8552 | 241/18723 | 5.68e-07 | 7.48e-06 | 148 |
GO:0048872111 | Esophagus | ESCC | homeostasis of number of cells | 163/8552 | 272/18723 | 1.40e-06 | 1.69e-05 | 163 |
GO:000164918 | Esophagus | ESCC | osteoblast differentiation | 140/8552 | 229/18723 | 1.63e-06 | 1.95e-05 | 140 |
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 | | |