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/ARHGEF1_pca_on_diff_genes.png) | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
Liver | ![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/Liver/ARHGEF1_pca_on_diff_genes.png) | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
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/ARHGEF1_pca_on_diff_genes.png) | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
Skin | ![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/Skin/ARHGEF1_pca_on_diff_genes.png) | AK: Actinic keratosis |
cSCC: Cutaneous squamous cell carcinoma |
SCCIS:squamous cell carcinoma in situ |
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/ARHGEF1_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:000701510 | Cervix | CC | actin filament organization | 109/2311 | 442/18723 | 4.92e-13 | 2.45e-10 | 109 |
GO:003297010 | Cervix | CC | regulation of actin filament-based process | 96/2311 | 397/18723 | 4.00e-11 | 8.54e-09 | 96 |
GO:00071639 | Cervix | CC | establishment or maintenance of cell polarity | 63/2311 | 218/18723 | 4.25e-11 | 8.76e-09 | 63 |
GO:190290310 | Cervix | CC | regulation of supramolecular fiber organization | 92/2311 | 383/18723 | 1.49e-10 | 2.48e-08 | 92 |
GO:003295610 | Cervix | CC | regulation of actin cytoskeleton organization | 86/2311 | 358/18723 | 5.90e-10 | 7.51e-08 | 86 |
GO:00510566 | Cervix | CC | regulation of small GTPase mediated signal transduction | 75/2311 | 302/18723 | 1.54e-09 | 1.74e-07 | 75 |
GO:00072656 | Cervix | CC | Ras protein signal transduction | 79/2311 | 337/18723 | 9.49e-09 | 7.77e-07 | 79 |
GO:011005310 | Cervix | CC | regulation of actin filament organization | 67/2311 | 278/18723 | 4.01e-08 | 2.54e-06 | 67 |
GO:00300108 | Cervix | CC | establishment of cell polarity | 42/2311 | 143/18723 | 4.30e-08 | 2.62e-06 | 42 |
GO:006157210 | Cervix | CC | actin filament bundle organization | 44/2311 | 161/18723 | 2.08e-07 | 9.34e-06 | 44 |
GO:005101710 | Cervix | CC | actin filament bundle assembly | 43/2311 | 157/18723 | 2.66e-07 | 1.12e-05 | 43 |
GO:190290510 | Cervix | CC | positive regulation of supramolecular fiber organization | 50/2311 | 209/18723 | 2.55e-06 | 7.54e-05 | 50 |
GO:00160498 | Cervix | CC | cell growth | 92/2311 | 482/18723 | 1.16e-05 | 2.49e-04 | 92 |
GO:00072666 | Cervix | CC | Rho protein signal transduction | 35/2311 | 137/18723 | 1.77e-05 | 3.33e-04 | 35 |
GO:005149510 | Cervix | CC | positive regulation of cytoskeleton organization | 50/2311 | 226/18723 | 2.53e-05 | 4.29e-04 | 50 |
GO:003223110 | Cervix | CC | regulation of actin filament bundle assembly | 28/2311 | 105/18723 | 5.19e-05 | 7.79e-04 | 28 |
GO:011002010 | Cervix | CC | regulation of actomyosin structure organization | 27/2311 | 100/18723 | 5.55e-05 | 8.10e-04 | 27 |
GO:00069846 | Cervix | CC | ER-nucleus signaling pathway | 16/2311 | 46/18723 | 7.12e-05 | 9.90e-04 | 16 |
GO:005149210 | Cervix | CC | regulation of stress fiber assembly | 25/2311 | 91/18723 | 7.59e-05 | 1.04e-03 | 25 |
GO:00310329 | Cervix | CC | actomyosin structure organization | 43/2311 | 196/18723 | 1.11e-04 | 1.40e-03 | 43 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa05130211 | Esophagus | ESCC | Pathogenic Escherichia coli infection | 142/4205 | 197/8465 | 8.21e-11 | 1.06e-09 | 5.42e-10 | 142 |
hsa0513526 | Esophagus | ESCC | Yersinia infection | 100/4205 | 137/8465 | 1.80e-08 | 1.59e-07 | 8.12e-08 | 100 |
hsa0520529 | Esophagus | ESCC | Proteoglycans in cancer | 138/4205 | 205/8465 | 1.79e-07 | 1.40e-06 | 7.15e-07 | 138 |
hsa05417211 | Esophagus | ESCC | Lipid and atherosclerosis | 143/4205 | 215/8465 | 3.30e-07 | 2.45e-06 | 1.26e-06 | 143 |
hsa05163210 | Esophagus | ESCC | Human cytomegalovirus infection | 148/4205 | 225/8465 | 5.73e-07 | 4.00e-06 | 2.05e-06 | 148 |
hsa0481028 | Esophagus | ESCC | Regulation of actin cytoskeleton | 133/4205 | 229/8465 | 5.94e-03 | 1.48e-02 | 7.56e-03 | 133 |
hsa05130310 | Esophagus | ESCC | Pathogenic Escherichia coli infection | 142/4205 | 197/8465 | 8.21e-11 | 1.06e-09 | 5.42e-10 | 142 |
hsa05135111 | Esophagus | ESCC | Yersinia infection | 100/4205 | 137/8465 | 1.80e-08 | 1.59e-07 | 8.12e-08 | 100 |
hsa0520537 | Esophagus | ESCC | Proteoglycans in cancer | 138/4205 | 205/8465 | 1.79e-07 | 1.40e-06 | 7.15e-07 | 138 |
hsa05417310 | Esophagus | ESCC | Lipid and atherosclerosis | 143/4205 | 215/8465 | 3.30e-07 | 2.45e-06 | 1.26e-06 | 143 |
hsa0516338 | Esophagus | ESCC | Human cytomegalovirus infection | 148/4205 | 225/8465 | 5.73e-07 | 4.00e-06 | 2.05e-06 | 148 |
hsa04810112 | Esophagus | ESCC | Regulation of actin cytoskeleton | 133/4205 | 229/8465 | 5.94e-03 | 1.48e-02 | 7.56e-03 | 133 |
hsa0481021 | Liver | Cirrhotic | Regulation of actin cytoskeleton | 100/2530 | 229/8465 | 5.28e-06 | 5.50e-05 | 3.39e-05 | 100 |
hsa0513022 | Liver | Cirrhotic | Pathogenic Escherichia coli infection | 88/2530 | 197/8465 | 6.48e-06 | 6.24e-05 | 3.84e-05 | 88 |
hsa0520510 | Liver | Cirrhotic | Proteoglycans in cancer | 85/2530 | 205/8465 | 2.37e-04 | 1.58e-03 | 9.75e-04 | 85 |
hsa0513522 | Liver | Cirrhotic | Yersinia infection | 57/2530 | 137/8465 | 2.16e-03 | 9.41e-03 | 5.80e-03 | 57 |
hsa0516312 | Liver | Cirrhotic | Human cytomegalovirus infection | 87/2530 | 225/8465 | 2.67e-03 | 1.10e-02 | 6.76e-03 | 87 |
hsa0541722 | Liver | Cirrhotic | Lipid and atherosclerosis | 80/2530 | 215/8465 | 1.18e-02 | 3.81e-02 | 2.35e-02 | 80 |
hsa0481031 | Liver | Cirrhotic | Regulation of actin cytoskeleton | 100/2530 | 229/8465 | 5.28e-06 | 5.50e-05 | 3.39e-05 | 100 |
hsa0513032 | Liver | Cirrhotic | Pathogenic Escherichia coli infection | 88/2530 | 197/8465 | 6.48e-06 | 6.24e-05 | 3.84e-05 | 88 |
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 |
ARHGEF1 | SNV | Missense_Mutation | | c.368N>T | p.Ala123Val | p.A123V | Q92888 | protein_coding | deleterious(0) | possibly_damaging(0.506) | TCGA-A2-A04Q-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
ARHGEF1 | SNV | Missense_Mutation | | c.95N>A | p.Gly32Asp | p.G32D | Q92888 | protein_coding | deleterious(0.02) | probably_damaging(0.998) | TCGA-A8-A09Z-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ARHGEF1 | SNV | Missense_Mutation | | c.151N>C | p.Glu51Gln | p.E51Q | Q92888 | protein_coding | deleterious(0.04) | benign(0.003) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
ARHGEF1 | SNV | Missense_Mutation | | c.139N>C | p.Glu47Gln | p.E47Q | Q92888 | protein_coding | tolerated(0.06) | possibly_damaging(0.877) | TCGA-BH-A0B6-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ARHGEF1 | SNV | Missense_Mutation | | c.298N>T | p.Gly100Cys | p.G100C | Q92888 | protein_coding | deleterious(0.04) | benign(0.005) | TCGA-BH-A0WA-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ARHGEF1 | SNV | Missense_Mutation | | c.2575N>T | p.Asp859Tyr | p.D859Y | Q92888 | protein_coding | deleterious(0) | probably_damaging(0.98) | TCGA-BH-A18V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ARHGEF1 | SNV | Missense_Mutation | | c.994N>T | p.Pro332Ser | p.P332S | Q92888 | protein_coding | tolerated(0.35) | possibly_damaging(0.793) | TCGA-D8-A1XJ-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | tamoxiphen | SD |
ARHGEF1 | deletion | Frame_Shift_Del | novel | c.527delN | p.Leu177SerfsTer4 | p.L177Sfs*4 | Q92888 | protein_coding | | | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
ARHGEF1 | deletion | Frame_Shift_Del | novel | c.1109delN | p.Met370ArgfsTer61 | p.M370Rfs*61 | Q92888 | protein_coding | | | TCGA-EW-A2FV-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | docetaxel | SD |
ARHGEF1 | SNV | Missense_Mutation | novel | c.842N>A | p.Ser281Asn | p.S281N | Q92888 | protein_coding | tolerated(0.38) | benign(0.205) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |