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:01100538 | Lung | IAC | regulation of actin filament organization | 54/2061 | 278/18723 | 2.27e-05 | 6.28e-04 | 54 |
GO:19029047 | Lung | IAC | negative regulation of supramolecular fiber organization | 37/2061 | 167/18723 | 2.38e-05 | 6.50e-04 | 37 |
GO:00465784 | Lung | IAC | regulation of Ras protein signal transduction | 40/2061 | 189/18723 | 3.50e-05 | 8.65e-04 | 40 |
GO:00512588 | Lung | IAC | protein polymerization | 56/2061 | 297/18723 | 3.90e-05 | 9.51e-04 | 56 |
GO:00325357 | Lung | IAC | regulation of cellular component size | 65/2061 | 383/18723 | 2.56e-04 | 4.26e-03 | 65 |
GO:00070303 | Lung | IAC | Golgi organization | 32/2061 | 157/18723 | 4.13e-04 | 6.22e-03 | 32 |
GO:0032011 | Lung | IAC | ARF protein signal transduction | 8/2061 | 19/18723 | 5.25e-04 | 7.44e-03 | 8 |
GO:0032012 | Lung | IAC | regulation of ARF protein signal transduction | 8/2061 | 19/18723 | 5.25e-04 | 7.44e-03 | 8 |
GO:00322718 | Lung | IAC | regulation of protein polymerization | 42/2061 | 233/18723 | 8.87e-04 | 1.11e-02 | 42 |
GO:00432548 | Lung | IAC | regulation of protein-containing complex assembly | 68/2061 | 428/18723 | 1.20e-03 | 1.38e-02 | 68 |
GO:00308377 | Lung | IAC | negative regulation of actin filament polymerization | 15/2061 | 65/18723 | 4.02e-03 | 3.30e-02 | 15 |
GO:00081548 | Lung | IAC | actin polymerization or depolymerization | 37/2061 | 218/18723 | 4.96e-03 | 3.79e-02 | 37 |
GO:000716313 | Lung | AIS | establishment or maintenance of cell polarity | 56/1849 | 218/18723 | 1.31e-11 | 6.13e-09 | 56 |
GO:003001013 | Lung | AIS | establishment of cell polarity | 42/1849 | 143/18723 | 5.03e-11 | 1.95e-08 | 42 |
GO:000701513 | Lung | AIS | actin filament organization | 88/1849 | 442/18723 | 1.02e-10 | 3.13e-08 | 88 |
GO:005105611 | Lung | AIS | regulation of small GTPase mediated signal transduction | 66/1849 | 302/18723 | 4.26e-10 | 9.53e-08 | 66 |
GO:003287812 | Lung | AIS | regulation of establishment or maintenance of cell polarity | 13/1849 | 25/18723 | 1.36e-07 | 1.44e-05 | 13 |
GO:200011412 | Lung | AIS | regulation of establishment of cell polarity | 12/1849 | 22/18723 | 2.09e-07 | 2.03e-05 | 12 |
GO:004308711 | Lung | AIS | regulation of GTPase activity | 65/1849 | 348/18723 | 3.35e-07 | 2.83e-05 | 65 |
GO:003295613 | Lung | AIS | regulation of actin cytoskeleton organization | 63/1849 | 358/18723 | 4.06e-06 | 2.09e-04 | 63 |
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 |