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Gene: ACVR1 |
Gene summary for ACVR1 |
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Gene information | Species | Human | Gene symbol | ACVR1 | Gene ID | 90 |
Gene name | activin A receptor type 1 | |
Gene Alias | ACTRI | |
Cytomap | 2q24.1 | |
Gene Type | protein-coding | GO ID | GO:0000003 | UniProtAcc | D3DPA4 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
90 | ACVR1 | LZE4T | Human | Esophagus | ESCC | 6.78e-03 | 2.20e-01 | 0.0811 |
90 | ACVR1 | P2T-E | Human | Esophagus | ESCC | 2.02e-13 | 9.83e-02 | 0.1177 |
90 | ACVR1 | P4T-E | Human | Esophagus | ESCC | 1.41e-05 | 1.01e-01 | 0.1323 |
90 | ACVR1 | P5T-E | Human | Esophagus | ESCC | 3.59e-06 | -1.87e-02 | 0.1327 |
90 | ACVR1 | P8T-E | Human | Esophagus | ESCC | 1.02e-14 | 1.29e-01 | 0.0889 |
90 | ACVR1 | P9T-E | Human | Esophagus | ESCC | 1.13e-08 | 1.07e-01 | 0.1131 |
90 | ACVR1 | P10T-E | Human | Esophagus | ESCC | 3.26e-22 | 2.80e-01 | 0.116 |
90 | ACVR1 | P11T-E | Human | Esophagus | ESCC | 3.92e-03 | 1.92e-01 | 0.1426 |
90 | ACVR1 | P12T-E | Human | Esophagus | ESCC | 2.04e-19 | 2.95e-01 | 0.1122 |
90 | ACVR1 | P15T-E | Human | Esophagus | ESCC | 9.29e-15 | 3.26e-01 | 0.1149 |
90 | ACVR1 | P16T-E | Human | Esophagus | ESCC | 2.10e-07 | 4.62e-02 | 0.1153 |
90 | ACVR1 | P20T-E | Human | Esophagus | ESCC | 1.20e-04 | 7.04e-02 | 0.1124 |
90 | ACVR1 | P21T-E | Human | Esophagus | ESCC | 5.00e-12 | 7.49e-02 | 0.1617 |
90 | ACVR1 | P22T-E | Human | Esophagus | ESCC | 4.25e-10 | 1.21e-01 | 0.1236 |
90 | ACVR1 | P23T-E | Human | Esophagus | ESCC | 4.02e-13 | 2.42e-01 | 0.108 |
90 | ACVR1 | P24T-E | Human | Esophagus | ESCC | 3.58e-05 | 5.75e-02 | 0.1287 |
90 | ACVR1 | P26T-E | Human | Esophagus | ESCC | 9.97e-08 | 7.79e-02 | 0.1276 |
90 | ACVR1 | P27T-E | Human | Esophagus | ESCC | 9.24e-04 | -1.80e-02 | 0.1055 |
90 | ACVR1 | P28T-E | Human | Esophagus | ESCC | 2.22e-11 | 1.42e-01 | 0.1149 |
90 | ACVR1 | P30T-E | Human | Esophagus | ESCC | 1.23e-11 | 3.03e-01 | 0.137 |
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∗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 |
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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 |
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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 |
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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 |
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Cell-cell communication analysis |
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Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
TGFB1 | ACVR1_TGFbR | TGFB1_ACVR1_TGFBR1 | TGFb | Breast | DCIS |
TGFB3 | ACVR1_TGFbR | TGFB3_ACVR1_TGFBR1 | TGFb | Breast | DCIS |
BMP7 | ACVR1_ACVR2A | BMP7_ACVR1_ACVR2A | BMP | Cervix | CC |
BMP7 | ACVR1_BMPR2 | BMP7_ACVR1_BMPR2 | BMP | Cervix | CC |
TGFB1 | ACVR1_TGFbR | TGFB1_ACVR1_TGFBR1 | TGFb | Cervix | CC |
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 | ACVR1C_TGFbR2 | TGFB1_ACVR1C_TGFBR2 | TGFb | CRC | CRC |
BMP6 | ACVR1_ACVR2A | BMP6_ACVR1_ACVR2A | BMP | CRC | MSI-H |
BMP6 | ACVR1_ACVR2B | BMP6_ACVR1_ACVR2B | BMP | CRC | MSI-H |
BMP6 | ACVR1_BMPR2 | BMP6_ACVR1_BMPR2 | BMP | CRC | MSI-H |
TGFB1 | ACVR1B_TGFbR2 | TGFB1_ACVR1B_TGFBR2 | TGFb | CRC | MSI-H |
TGFB1 | ACVR1_TGFbR | TGFB1_ACVR1_TGFBR1 | TGFb | CRC | MSI-H |
INHBB | ACVR1B_ACVR2A | INHBB_ACVR1B_ACVR2A | ACTIVIN | CRC | MSI-H |
INHBB | ACVR1B_ACVR2B | INHBB_ACVR1B_ACVR2B | ACTIVIN | CRC | MSI-H |
BMP8A | ACVR1_BMPR2 | BMP8A_ACVR1_BMPR2 | BMP | Endometrium | ADJ |
TGFB1 | ACVR1B_TGFbR2 | TGFB1_ACVR1B_TGFBR2 | TGFb | Endometrium | AEH |
BMP7 | ACVR1_BMPR2 | BMP7_ACVR1_BMPR2 | BMP | Endometrium | AEH |
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Single-cell gene regulatory network inference analysis |
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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. |
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Somatic mutation of malignant transformation related genes |
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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 | rs751000395 | c.1123C>T | p.Arg375Cys | p.R375C | Q04771 | protein_coding | deleterious(0) | probably_damaging(0.995) | TCGA-F4-6806-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Chemotherapy | irinotecan | PD |
ACVR1 | SNV | Missense_Mutation | c.242N>A | p.Cys81Tyr | p.C81Y | Q04771 | protein_coding | deleterious(0.02) | probably_damaging(1) | TCGA-G4-6628-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
ACVR1 | SNV | Missense_Mutation | c.869N>T | p.Ser290Leu | p.S290L | Q04771 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AG-A002-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD | |
ACVR1 | SNV | Missense_Mutation | c.681G>T | p.Trp227Cys | p.W227C | Q04771 | protein_coding | deleterious(0) | probably_damaging(0.94) | TCGA-CL-5918-01 | Colorectum | rectum adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
ACVR1 | SNV | Missense_Mutation | rs776029462 | c.1297N>A | p.Asp433Asn | p.D433N | Q04771 | protein_coding | deleterious(0.02) | possibly_damaging(0.882) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
ACVR1 | SNV | Missense_Mutation | rs765195676 | c.400N>A | p.Ala134Thr | p.A134T | Q04771 | protein_coding | tolerated(0.41) | benign(0.018) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
ACVR1 | SNV | Missense_Mutation | c.752N>C | p.Leu251Ser | p.L251S | Q04771 | protein_coding | deleterious(0) | benign(0.25) | TCGA-A5-A0GB-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
ACVR1 | SNV | Missense_Mutation | novel | c.86A>G | p.Asn29Ser | p.N29S | Q04771 | protein_coding | tolerated(0.44) | benign(0.001) | TCGA-A5-A1OF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ACVR1 | SNV | Missense_Mutation | novel | c.1031T>A | p.Val344Asp | p.V344D | Q04771 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-A5-A1OH-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Chemotherapy | carboplatin | CR |
ACVR1 | SNV | Missense_Mutation | c.554N>G | p.Asp185Gly | p.D185G | Q04771 | protein_coding | tolerated(0.12) | probably_damaging(0.966) | TCGA-AP-A051-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
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Related drugs of malignant transformation related genes |
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(DGIdb 4.0) |
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 |
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