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Gene: ACVRL1 |
Gene summary for ACVRL1 |
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Gene information | Species | Human | Gene symbol | ACVRL1 | Gene ID | 94 |
Gene name | activin A receptor like type 1 | |
Gene Alias | ACVRLK1 | |
Cytomap | 12q13.13 | |
Gene Type | protein-coding | GO ID | GO:0001501 | UniProtAcc | A0A0S2Z310 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
94 | ACVRL1 | HTA11_2487_2000001011 | Human | Colorectum | SER | 1.83e-06 | 3.67e-01 | -0.1808 |
94 | ACVRL1 | HTA11_1938_2000001011 | Human | Colorectum | AD | 4.89e-05 | 2.28e-01 | -0.0811 |
94 | ACVRL1 | HTA11_78_2000001011 | Human | Colorectum | AD | 2.63e-02 | 2.51e-01 | -0.1088 |
94 | ACVRL1 | HTA11_347_2000001011 | Human | Colorectum | AD | 5.31e-21 | 5.41e-01 | -0.1954 |
94 | ACVRL1 | HTA11_411_2000001011 | Human | Colorectum | SER | 3.98e-07 | 1.07e+00 | -0.2602 |
94 | ACVRL1 | HTA11_2112_2000001011 | Human | Colorectum | SER | 2.37e-04 | 6.49e-01 | -0.2196 |
94 | ACVRL1 | HTA11_696_2000001011 | Human | Colorectum | AD | 5.53e-15 | 5.69e-01 | -0.1464 |
94 | ACVRL1 | HTA11_866_2000001011 | Human | Colorectum | AD | 2.61e-05 | 3.34e-01 | -0.1001 |
94 | ACVRL1 | HTA11_1391_2000001011 | Human | Colorectum | AD | 1.29e-06 | 2.40e-01 | -0.059 |
94 | ACVRL1 | HTA11_2992_2000001011 | Human | Colorectum | SER | 4.03e-04 | 6.85e-01 | -0.1706 |
94 | ACVRL1 | HTA11_5212_2000001011 | Human | Colorectum | AD | 3.12e-12 | 7.70e-01 | -0.2061 |
94 | ACVRL1 | HTA11_866_3004761011 | Human | Colorectum | AD | 2.84e-04 | 1.75e-01 | 0.096 |
94 | ACVRL1 | HTA11_10623_2000001011 | Human | Colorectum | AD | 4.31e-03 | 2.54e-01 | -0.0177 |
94 | ACVRL1 | HTA11_10711_2000001011 | Human | Colorectum | AD | 5.37e-10 | 2.90e-01 | 0.0338 |
94 | ACVRL1 | HTA11_6818_2000001011 | Human | Colorectum | AD | 1.85e-02 | 3.13e-01 | 0.0112 |
94 | ACVRL1 | HTA11_99999965104_69814 | Human | Colorectum | MSS | 3.96e-02 | 8.77e-02 | 0.281 |
94 | ACVRL1 | ATC12 | Human | Thyroid | ATC | 5.95e-07 | 1.80e-01 | 0.34 |
94 | ACVRL1 | ATC13 | Human | Thyroid | ATC | 5.60e-61 | 1.26e+00 | 0.34 |
94 | ACVRL1 | ATC4 | Human | Thyroid | ATC | 4.56e-09 | 2.16e-01 | 0.34 |
94 | ACVRL1 | ATC5 | Human | Thyroid | ATC | 1.81e-60 | 1.33e+00 | 0.34 |
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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). |
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GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00019521 | Colorectum | SER | regulation of cell-matrix adhesion | 39/2897 | 128/18723 | 1.39e-05 | 4.30e-04 | 39 |
GO:00070441 | Colorectum | SER | cell-substrate junction assembly | 31/2897 | 95/18723 | 2.34e-05 | 6.64e-04 | 31 |
GO:00315891 | Colorectum | SER | cell-substrate adhesion | 86/2897 | 363/18723 | 2.36e-05 | 6.64e-04 | 86 |
GO:00420601 | Colorectum | SER | wound healing | 97/2897 | 422/18723 | 2.69e-05 | 7.30e-04 | 97 |
GO:20002781 | Colorectum | SER | regulation of DNA biosynthetic process | 33/2897 | 106/18723 | 3.83e-05 | 9.82e-04 | 33 |
GO:00016671 | Colorectum | SER | ameboidal-type cell migration | 105/2897 | 475/18723 | 6.97e-05 | 1.59e-03 | 105 |
GO:00510521 | Colorectum | SER | regulation of DNA metabolic process | 83/2897 | 359/18723 | 8.03e-05 | 1.77e-03 | 83 |
GO:00901321 | Colorectum | SER | epithelium migration | 82/2897 | 360/18723 | 1.50e-04 | 2.93e-03 | 82 |
GO:00106311 | Colorectum | SER | epithelial cell migration | 81/2897 | 357/18723 | 1.87e-04 | 3.44e-03 | 81 |
GO:00704821 | Colorectum | SER | response to oxygen levels | 79/2897 | 347/18723 | 1.99e-04 | 3.64e-03 | 79 |
GO:00901301 | Colorectum | SER | tissue migration | 82/2897 | 365/18723 | 2.40e-04 | 4.12e-03 | 82 |
GO:00106321 | Colorectum | SER | regulation of epithelial cell migration | 68/2897 | 292/18723 | 2.72e-04 | 4.53e-03 | 68 |
GO:00015581 | Colorectum | SER | regulation of cell growth | 90/2897 | 414/18723 | 4.00e-04 | 6.02e-03 | 90 |
GO:00480411 | Colorectum | SER | focal adhesion assembly | 26/2897 | 87/18723 | 4.98e-04 | 7.08e-03 | 26 |
GO:00016661 | Colorectum | SER | response to hypoxia | 69/2897 | 307/18723 | 7.07e-04 | 9.39e-03 | 69 |
GO:01501161 | Colorectum | SER | regulation of cell-substrate junction organization | 22/2897 | 71/18723 | 7.64e-04 | 9.79e-03 | 22 |
GO:0007162 | Colorectum | SER | negative regulation of cell adhesion | 68/2897 | 303/18723 | 8.02e-04 | 1.01e-02 | 68 |
GO:00362931 | Colorectum | SER | response to decreased oxygen levels | 71/2897 | 322/18723 | 1.04e-03 | 1.22e-02 | 71 |
GO:00160491 | Colorectum | SER | cell growth | 100/2897 | 482/18723 | 1.07e-03 | 1.24e-02 | 100 |
GO:00718971 | Colorectum | SER | DNA biosynthetic process | 43/2897 | 180/18723 | 1.99e-03 | 1.98e-02 | 43 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
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Cell-cell communication analysis |
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Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
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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 |
ACVRL1 | SNV | Missense_Mutation | c.1273N>A | p.Phe425Ile | p.F425I | P37023 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-A2-A3Y0-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | CR | |
ACVRL1 | SNV | Missense_Mutation | c.1341N>C | p.Gln447His | p.Q447H | P37023 | protein_coding | tolerated(0.4) | benign(0.288) | TCGA-A8-A095-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | 5-fluorouracil | CR | |
ACVRL1 | SNV | Missense_Mutation | c.533N>G | p.Leu178Arg | p.L178R | P37023 | protein_coding | deleterious(0) | possibly_damaging(0.781) | TCGA-E9-A1NA-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD | |
ACVRL1 | SNV | Missense_Mutation | c.670N>A | p.Glu224Lys | p.E224K | P37023 | protein_coding | deleterious(0) | probably_damaging(0.991) | TCGA-E9-A2JT-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD | |
ACVRL1 | deletion | Frame_Shift_Del | c.376delG | p.Val126CysfsTer39 | p.V126Cfs*39 | P37023 | protein_coding | TCGA-AO-A128-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD | |||
ACVRL1 | SNV | Missense_Mutation | novel | c.1001N>A | p.Arg334His | p.R334H | P37023 | protein_coding | deleterious(0) | probably_damaging(0.956) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
ACVRL1 | SNV | Missense_Mutation | c.1156N>T | p.Arg386Cys | p.R386C | P37023 | protein_coding | deleterious(0) | probably_damaging(0.97) | TCGA-LP-A7HU-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD | |
ACVRL1 | SNV | Missense_Mutation | c.1142T>C | p.Leu381Pro | p.L381P | P37023 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-ZJ-AAXJ-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD | |
ACVRL1 | SNV | Missense_Mutation | c.1139T>C | p.Val380Ala | p.V380A | P37023 | protein_coding | deleterious(0) | probably_damaging(0.974) | TCGA-AA-3867-01 | Colorectum | colon adenocarcinoma | Male | >=65 | III/IV | Unknown | Unknown | PD | |
ACVRL1 | SNV | Missense_Mutation | rs141764916 | c.1157N>A | p.Arg386His | p.R386H | P37023 | protein_coding | deleterious(0.02) | benign(0.054) | TCGA-AA-3949-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | 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 |
94 | ACVRL1 | KINASE, SERINE THREONINE KINASE, CELL SURFACE, DRUGGABLE GENOME, ENZYME | inhibitor | 249565824 | ||
94 | ACVRL1 | KINASE, SERINE THREONINE KINASE, CELL SURFACE, DRUGGABLE GENOME, ENZYME | inhibitor | 249565835 | ||
94 | ACVRL1 | KINASE, SERINE THREONINE KINASE, CELL SURFACE, DRUGGABLE GENOME, ENZYME | inhibitor | 249565801 | ||
94 | ACVRL1 | KINASE, SERINE THREONINE KINASE, CELL SURFACE, DRUGGABLE GENOME, ENZYME | DALANTERCEPT | DALANTERCEPT | ||
94 | ACVRL1 | KINASE, SERINE THREONINE KINASE, CELL SURFACE, DRUGGABLE GENOME, ENZYME | inhibitor | CHEMBL3545322 | PANULISIB | |
94 | ACVRL1 | KINASE, SERINE THREONINE KINASE, CELL SURFACE, DRUGGABLE GENOME, ENZYME | DALANTERCEPT | DALANTERCEPT | ||
94 | ACVRL1 | KINASE, SERINE THREONINE KINASE, CELL SURFACE, DRUGGABLE GENOME, ENZYME | inhibitor | 249565800 | ||
94 | ACVRL1 | KINASE, SERINE THREONINE KINASE, CELL SURFACE, DRUGGABLE GENOME, ENZYME | inhibitor | CHEMBL2109295 | ASCRINVACUMAB | |
94 | ACVRL1 | KINASE, SERINE THREONINE KINASE, CELL SURFACE, DRUGGABLE GENOME, ENZYME | inhibitor | 363894210 | PANULISIB | |
94 | ACVRL1 | KINASE, SERINE THREONINE KINASE, CELL SURFACE, DRUGGABLE GENOME, ENZYME | inhibitor | HESPERADIN | HESPERADIN | 19035792 |
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