Tissue | Expression Dynamics | Abbreviation |
Breast | | IDC: Invasive ductal carcinoma |
DCIS: Ductal carcinoma in situ |
Precancer(BRCA1-mut): Precancerous lesion from BRCA1 mutation carriers |
Colorectum (GSE201348) | | FAP: Familial adenomatous polyposis |
CRC: Colorectal cancer |
Colorectum (HTA11) | | AD: Adenomas |
SER: Sessile serrated lesions |
MSI-H: Microsatellite-high colorectal cancer |
MSS: Microsatellite stable colorectal cancer |
Esophagus | | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
Liver | | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
Lung | | AAH: Atypical adenomatous hyperplasia |
AIS: Adenocarcinoma in situ |
IAC: Invasive lung adenocarcinoma |
MIA: Minimally invasive adenocarcinoma |
Oral Cavity | | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
Prostate | | BPH: Benign Prostatic Hyperplasia |
Skin | | AK: Actinic keratosis |
cSCC: Cutaneous squamous cell carcinoma |
SCCIS:squamous cell carcinoma in situ |
Thyroid | | 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:004852415 | Prostate | BPH | positive regulation of viral process | 27/3107 | 65/18723 | 1.65e-06 | 2.78e-05 | 27 |
GO:00480258 | Prostate | BPH | negative regulation of mRNA splicing, via spliceosome | 13/3107 | 20/18723 | 1.72e-06 | 2.88e-05 | 13 |
GO:00308565 | Prostate | BPH | regulation of epithelial cell differentiation | 49/3107 | 154/18723 | 2.28e-06 | 3.74e-05 | 49 |
GO:00071628 | Prostate | BPH | negative regulation of cell adhesion | 82/3107 | 303/18723 | 2.51e-06 | 4.04e-05 | 82 |
GO:006104110 | Prostate | BPH | regulation of wound healing | 44/3107 | 134/18723 | 2.91e-06 | 4.61e-05 | 44 |
GO:00190809 | Prostate | BPH | viral gene expression | 34/3107 | 94/18723 | 3.51e-06 | 5.48e-05 | 34 |
GO:190303416 | Prostate | BPH | regulation of response to wounding | 51/3107 | 167/18723 | 5.43e-06 | 8.01e-05 | 51 |
GO:00164828 | Prostate | BPH | cytosolic transport | 51/3107 | 168/18723 | 6.56e-06 | 9.53e-05 | 51 |
GO:000863016 | Prostate | BPH | intrinsic apoptotic signaling pathway in response to DNA damage | 34/3107 | 99/18723 | 1.29e-05 | 1.70e-04 | 34 |
GO:002240716 | Prostate | BPH | regulation of cell-cell adhesion | 109/3107 | 448/18723 | 1.43e-05 | 1.85e-04 | 109 |
GO:00431239 | Prostate | BPH | positive regulation of I-kappaB kinase/NF-kappaB signaling | 54/3107 | 186/18723 | 1.50e-05 | 1.92e-04 | 54 |
GO:00063259 | Prostate | BPH | chromatin organization | 101/3107 | 409/18723 | 1.52e-05 | 1.94e-04 | 101 |
GO:00148964 | Prostate | BPH | muscle hypertrophy | 35/3107 | 104/18723 | 1.60e-05 | 2.01e-04 | 35 |
GO:00147432 | Prostate | BPH | regulation of muscle hypertrophy | 27/3107 | 72/18723 | 1.62e-05 | 2.03e-04 | 27 |
GO:00510516 | Prostate | BPH | negative regulation of transport | 113/3107 | 470/18723 | 1.76e-05 | 2.18e-04 | 113 |
GO:00106112 | Prostate | BPH | regulation of cardiac muscle hypertrophy | 26/3107 | 69/18723 | 2.09e-05 | 2.55e-04 | 26 |
GO:003461216 | Prostate | BPH | response to tumor necrosis factor | 68/3107 | 253/18723 | 2.22e-05 | 2.67e-04 | 68 |
GO:00148973 | Prostate | BPH | striated muscle hypertrophy | 34/3107 | 102/18723 | 2.63e-05 | 3.10e-04 | 34 |
GO:000862514 | Prostate | BPH | extrinsic apoptotic signaling pathway via death domain receptors | 29/3107 | 82/18723 | 2.92e-05 | 3.34e-04 | 29 |
GO:00033004 | Prostate | BPH | cardiac muscle hypertrophy | 33/3107 | 99/18723 | 3.43e-05 | 3.82e-04 | 33 |
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 |
RSF1 | SNV | Missense_Mutation | | c.1989A>C | p.Lys663Asn | p.K663N | Q96T23 | protein_coding | tolerated_low_confidence(0.23) | benign(0) | TCGA-A2-A0EV-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
RSF1 | SNV | Missense_Mutation | novel | c.1274G>C | p.Cys425Ser | p.C425S | Q96T23 | protein_coding | tolerated_low_confidence(0.33) | benign(0.031) | TCGA-A2-A3XT-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | PR |
RSF1 | SNV | Missense_Mutation | rs779258393 | c.3217G>A | p.Glu1073Lys | p.E1073K | Q96T23 | protein_coding | deleterious(0.01) | probably_damaging(0.996) | TCGA-A8-A09E-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | anastrozole | SD |
RSF1 | SNV | Missense_Mutation | novel | c.334N>A | p.Leu112Ile | p.L112I | Q96T23 | protein_coding | tolerated(0.06) | benign(0.321) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
RSF1 | SNV | Missense_Mutation | novel | c.3529G>C | p.Glu1177Gln | p.E1177Q | Q96T23 | protein_coding | deleterious(0.02) | possibly_damaging(0.725) | TCGA-AN-A0FL-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
RSF1 | SNV | Missense_Mutation | | c.2074G>C | p.Glu692Gln | p.E692Q | Q96T23 | protein_coding | deleterious(0.03) | benign(0.203) | TCGA-AN-A0XW-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
RSF1 | SNV | Missense_Mutation | | c.1645N>T | p.Asp549Tyr | p.D549Y | Q96T23 | protein_coding | deleterious_low_confidence(0) | benign(0.406) | TCGA-BH-A0DG-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | CR |
RSF1 | SNV | Missense_Mutation | | c.2905N>C | p.Glu969Gln | p.E969Q | Q96T23 | protein_coding | deleterious(0.04) | possibly_damaging(0.734) | TCGA-D8-A27G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
RSF1 | SNV | Missense_Mutation | novel | c.3947N>C | p.Gly1316Ala | p.G1316A | Q96T23 | protein_coding | tolerated_low_confidence(0.19) | benign(0.15) | TCGA-LL-A5YL-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
RSF1 | insertion | In_Frame_Ins | novel | c.1529_1530insCCT | p.Arg510delinsSerLeu | p.R510delinsSL | Q96T23 | protein_coding | | | TCGA-BH-A0AY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | | SD |