Tissue | Expression Dynamics | Abbreviation |
Cervix | ![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/Cervix/ARFGEF1_pca_on_diff_genes.png) | CC: Cervix cancer |
HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions |
N_HPV: HPV-infected normal cervix |
Colorectum (GSE201348) | ![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/Colorectum/Becker/ARFGEF1_pca_on_diff_genes.png) | FAP: Familial adenomatous polyposis |
CRC: Colorectal cancer |
Colorectum (HTA11) | ![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/Colorectum/Chen/ARFGEF1_pca_on_diff_genes.png) | AD: Adenomas |
SER: Sessile serrated lesions |
MSI-H: Microsatellite-high colorectal cancer |
MSS: Microsatellite stable colorectal cancer |
Endometrium | ![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/Endometrium/ARFGEF1_pca_on_diff_genes.png) | AEH: Atypical endometrial hyperplasia |
EEC: Endometrioid Cancer |
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/ARFGEF1_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/ARFGEF1_pca_on_diff_genes.png) | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
Lung | ![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/Lung/ARFGEF1_pca_on_diff_genes.png) | AAH: Atypical adenomatous hyperplasia |
AIS: Adenocarcinoma in situ |
IAC: Invasive lung adenocarcinoma |
MIA: Minimally invasive adenocarcinoma |
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/ARFGEF1_pca_on_diff_genes.png) | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
Prostate | ![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/Prostate/ARFGEF1_pca_on_diff_genes.png) | BPH: Benign Prostatic Hyperplasia |
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/ARFGEF1_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/ARFGEF1_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:190290326 | Oral cavity | EOLP | regulation of supramolecular fiber organization | 93/2218 | 383/18723 | 6.50e-12 | 1.08e-09 | 93 |
GO:004206026 | Oral cavity | EOLP | wound healing | 99/2218 | 422/18723 | 1.18e-11 | 1.85e-09 | 99 |
GO:000701526 | Oral cavity | EOLP | actin filament organization | 102/2218 | 442/18723 | 1.61e-11 | 2.48e-09 | 102 |
GO:003297026 | Oral cavity | EOLP | regulation of actin filament-based process | 93/2218 | 397/18723 | 5.39e-11 | 7.03e-09 | 93 |
GO:003227125 | Oral cavity | EOLP | regulation of protein polymerization | 64/2218 | 233/18723 | 5.54e-11 | 7.07e-09 | 64 |
GO:005125825 | Oral cavity | EOLP | protein polymerization | 74/2218 | 297/18723 | 2.65e-10 | 2.45e-08 | 74 |
GO:003295626 | Oral cavity | EOLP | regulation of actin cytoskeleton organization | 84/2218 | 358/18723 | 4.24e-10 | 3.65e-08 | 84 |
GO:003253523 | Oral cavity | EOLP | regulation of cellular component size | 83/2218 | 383/18723 | 2.73e-08 | 1.12e-06 | 83 |
GO:011005326 | Oral cavity | EOLP | regulation of actin filament organization | 65/2218 | 278/18723 | 4.55e-08 | 1.72e-06 | 65 |
GO:000726522 | Oral cavity | EOLP | Ras protein signal transduction | 74/2218 | 337/18723 | 8.76e-08 | 3.09e-06 | 74 |
GO:000815424 | Oral cavity | EOLP | actin polymerization or depolymerization | 53/2218 | 218/18723 | 2.08e-07 | 6.55e-06 | 53 |
GO:003004123 | Oral cavity | EOLP | actin filament polymerization | 48/2218 | 191/18723 | 2.68e-07 | 8.16e-06 | 48 |
GO:000806422 | Oral cavity | EOLP | regulation of actin polymerization or depolymerization | 47/2218 | 188/18723 | 4.19e-07 | 1.19e-05 | 47 |
GO:003083324 | Oral cavity | EOLP | regulation of actin filament polymerization | 44/2218 | 172/18723 | 4.90e-07 | 1.34e-05 | 44 |
GO:003083222 | Oral cavity | EOLP | regulation of actin filament length | 47/2218 | 189/18723 | 4.95e-07 | 1.34e-05 | 47 |
GO:000716325 | Oral cavity | EOLP | establishment or maintenance of cell polarity | 51/2218 | 218/18723 | 1.22e-06 | 2.94e-05 | 51 |
GO:003133324 | Oral cavity | EOLP | negative regulation of protein-containing complex assembly | 37/2218 | 141/18723 | 2.01e-06 | 4.57e-05 | 37 |
GO:000703014 | Oral cavity | EOLP | Golgi organization | 37/2218 | 157/18723 | 2.83e-05 | 4.12e-04 | 37 |
GO:001063923 | Oral cavity | EOLP | negative regulation of organelle organization | 67/2218 | 348/18723 | 3.78e-05 | 5.21e-04 | 67 |
GO:190303419 | Oral cavity | EOLP | regulation of response to wounding | 38/2218 | 167/18723 | 5.06e-05 | 6.58e-04 | 38 |
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 |
ARFGEF1 | SNV | Missense_Mutation | novel | c.5458C>T | p.Arg1820Cys | p.R1820C | Q9Y6D6 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-3C-AALI-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Poly E | Complete Response |
ARFGEF1 | SNV | Missense_Mutation | novel | c.3063N>C | p.Lys1021Asn | p.K1021N | Q9Y6D6 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-A2-A0EQ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
ARFGEF1 | SNV | Missense_Mutation | | c.2723G>A | p.Arg908Lys | p.R908K | Q9Y6D6 | protein_coding | tolerated(0.33) | benign(0.241) | TCGA-A2-A0ET-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cytoxan | SD |
ARFGEF1 | SNV | Missense_Mutation | | c.4345N>A | p.Glu1449Lys | p.E1449K | Q9Y6D6 | protein_coding | deleterious(0) | probably_damaging(0.995) | TCGA-A2-A1FV-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | cyclophosphamide | SD |
ARFGEF1 | SNV | Missense_Mutation | | c.571N>A | p.Gln191Lys | p.Q191K | Q9Y6D6 | protein_coding | deleterious(0) | probably_damaging(0.989) | TCGA-A2-A4S3-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ARFGEF1 | SNV | Missense_Mutation | | c.2710N>A | p.Glu904Lys | p.E904K | Q9Y6D6 | protein_coding | deleterious(0.03) | probably_damaging(0.999) | TCGA-A8-A08R-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ARFGEF1 | SNV | Missense_Mutation | novel | c.1879A>G | p.Ser627Gly | p.S627G | Q9Y6D6 | protein_coding | deleterious(0.03) | probably_damaging(0.996) | TCGA-A8-A09E-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | anastrozole | SD |
ARFGEF1 | SNV | Missense_Mutation | | c.3227N>C | p.Arg1076Thr | p.R1076T | Q9Y6D6 | protein_coding | tolerated(0.22) | benign(0.039) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
ARFGEF1 | SNV | Missense_Mutation | rs751084276 | c.92N>G | p.Ser31Cys | p.S31C | Q9Y6D6 | protein_coding | deleterious(0.02) | possibly_damaging(0.784) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
ARFGEF1 | SNV | Missense_Mutation | | c.158N>T | p.Pro53Leu | p.P53L | Q9Y6D6 | protein_coding | tolerated(0.1) | benign(0.18) | TCGA-BH-A2L8-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | CR |