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:005149414 | Endometrium | EEC | negative regulation of cytoskeleton organization | 33/2168 | 163/18723 | 9.37e-04 | 8.42e-03 | 33 |
GO:000703012 | Endometrium | EEC | Golgi organization | 32/2168 | 157/18723 | 9.87e-04 | 8.76e-03 | 32 |
GO:003287813 | Endometrium | EEC | regulation of establishment or maintenance of cell polarity | 9/2168 | 25/18723 | 1.33e-03 | 1.10e-02 | 9 |
GO:006104114 | Endometrium | EEC | regulation of wound healing | 28/2168 | 134/18723 | 1.34e-03 | 1.10e-02 | 28 |
GO:003227214 | Endometrium | EEC | negative regulation of protein polymerization | 19/2168 | 80/18723 | 1.64e-03 | 1.29e-02 | 19 |
GO:200011413 | Endometrium | EEC | regulation of establishment of cell polarity | 8/2168 | 22/18723 | 2.28e-03 | 1.69e-02 | 8 |
GO:003083714 | Endometrium | EEC | negative regulation of actin filament polymerization | 16/2168 | 65/18723 | 2.51e-03 | 1.83e-02 | 16 |
GO:190303613 | Endometrium | EEC | positive regulation of response to wounding | 17/2168 | 72/18723 | 3.01e-03 | 2.10e-02 | 17 |
GO:004349113 | Endometrium | EEC | protein kinase B signaling | 38/2168 | 211/18723 | 3.74e-03 | 2.49e-02 | 38 |
GO:005189612 | Endometrium | EEC | regulation of protein kinase B signaling | 34/2168 | 185/18723 | 4.24e-03 | 2.75e-02 | 34 |
GO:004325427 | Esophagus | HGIN | regulation of protein-containing complex assembly | 94/2587 | 428/18723 | 2.39e-06 | 8.55e-05 | 94 |
GO:001063920 | Esophagus | HGIN | negative regulation of organelle organization | 79/2587 | 348/18723 | 4.12e-06 | 1.37e-04 | 79 |
GO:005125826 | Esophagus | HGIN | protein polymerization | 66/2587 | 297/18723 | 4.96e-05 | 1.19e-03 | 66 |
GO:190290327 | Esophagus | HGIN | regulation of supramolecular fiber organization | 79/2587 | 383/18723 | 1.40e-04 | 2.81e-03 | 79 |
GO:003297027 | Esophagus | HGIN | regulation of actin filament-based process | 77/2587 | 397/18723 | 1.14e-03 | 1.39e-02 | 77 |
GO:003227126 | Esophagus | HGIN | regulation of protein polymerization | 49/2587 | 233/18723 | 1.56e-03 | 1.79e-02 | 49 |
GO:003295627 | Esophagus | HGIN | regulation of actin cytoskeleton organization | 69/2587 | 358/18723 | 2.35e-03 | 2.39e-02 | 69 |
GO:003133320 | Esophagus | HGIN | negative regulation of protein-containing complex assembly | 32/2587 | 141/18723 | 2.80e-03 | 2.74e-02 | 32 |
GO:005134620 | Esophagus | HGIN | negative regulation of hydrolase activity | 72/2587 | 379/18723 | 2.81e-03 | 2.75e-02 | 72 |
GO:003004120 | Esophagus | HGIN | actin filament polymerization | 40/2587 | 191/18723 | 4.29e-03 | 3.82e-02 | 40 |
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 |