Tissue | Expression Dynamics | Abbreviation |
Cervix | | CC: Cervix cancer |
HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions |
N_HPV: HPV-infected normal cervix |
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 |
GC | | CAG: Chronic atrophic gastritis |
CAG with IM: Chronic atrophic gastritis with intestinal metaplasia |
CSG: Chronic superficial gastritis |
GC: Gastric cancer |
SIM: Severe intestinal metaplasia |
WIM: Wild intestinal metaplasia |
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 |
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:00901301 | Colorectum | SER | tissue migration | 82/2897 | 365/18723 | 2.40e-04 | 4.12e-03 | 82 |
GO:00106321 | Colorectum | SER | regulation of epithelial cell migration | 68/2897 | 292/18723 | 2.72e-04 | 4.53e-03 | 68 |
GO:00457851 | Colorectum | SER | positive regulation of cell adhesion | 93/2897 | 437/18723 | 6.78e-04 | 9.04e-03 | 93 |
GO:00071601 | Colorectum | SER | cell-matrix adhesion | 53/2897 | 233/18723 | 2.10e-03 | 2.06e-02 | 53 |
GO:00435421 | Colorectum | SER | endothelial cell migration | 61/2897 | 279/18723 | 2.76e-03 | 2.47e-02 | 61 |
GO:00106341 | Colorectum | SER | positive regulation of epithelial cell migration | 41/2897 | 176/18723 | 4.03e-03 | 3.30e-02 | 41 |
GO:2001212 | Colorectum | SER | regulation of vasculogenesis | 7/2897 | 16/18723 | 6.63e-03 | 4.69e-02 | 7 |
GO:00458622 | Colorectum | MSS | positive regulation of proteolysis | 119/3467 | 372/18723 | 2.14e-10 | 2.09e-08 | 119 |
GO:00108102 | Colorectum | MSS | regulation of cell-substrate adhesion | 73/3467 | 221/18723 | 1.56e-07 | 7.16e-06 | 73 |
GO:00525472 | Colorectum | MSS | regulation of peptidase activity | 130/3467 | 461/18723 | 1.81e-07 | 8.13e-06 | 130 |
GO:00108112 | Colorectum | MSS | positive regulation of cell-substrate adhesion | 47/3467 | 123/18723 | 2.28e-07 | 9.79e-06 | 47 |
GO:00315892 | Colorectum | MSS | cell-substrate adhesion | 104/3467 | 363/18723 | 1.35e-06 | 4.51e-05 | 104 |
GO:00109522 | Colorectum | MSS | positive regulation of peptidase activity | 63/3467 | 197/18723 | 3.65e-06 | 1.06e-04 | 63 |
GO:20001162 | Colorectum | MSS | regulation of cysteine-type endopeptidase activity | 72/3467 | 235/18723 | 4.39e-06 | 1.24e-04 | 72 |
GO:00019522 | Colorectum | MSS | regulation of cell-matrix adhesion | 45/3467 | 128/18723 | 5.75e-06 | 1.53e-04 | 45 |
GO:00525482 | Colorectum | MSS | regulation of endopeptidase activity | 117/3467 | 432/18723 | 6.25e-06 | 1.65e-04 | 117 |
GO:01060272 | Colorectum | MSS | neuron projection organization | 34/3467 | 93/18723 | 3.04e-05 | 6.14e-04 | 34 |
GO:00709972 | Colorectum | MSS | neuron death | 97/3467 | 361/18723 | 5.21e-05 | 9.31e-04 | 97 |
GO:00109502 | Colorectum | MSS | positive regulation of endopeptidase activity | 54/3467 | 179/18723 | 1.03e-04 | 1.61e-03 | 54 |
GO:00016672 | Colorectum | MSS | ameboidal-type cell migration | 120/3467 | 475/18723 | 1.37e-04 | 2.05e-03 | 120 |
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 |
RIN2 | SNV | Missense_Mutation | | c.343N>C | p.Glu115Gln | p.E115Q | Q8WYP3 | protein_coding | tolerated_low_confidence(0.16) | benign(0.023) | TCGA-A1-A0SO-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | | SD |
RIN2 | SNV | Missense_Mutation | | c.1117C>G | p.Arg373Gly | p.R373G | Q8WYP3 | protein_coding | tolerated(0.39) | benign(0) | TCGA-A2-A0EY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
RIN2 | SNV | Missense_Mutation | novel | c.2069T>G | p.Val690Gly | p.V690G | Q8WYP3 | protein_coding | deleterious(0) | probably_damaging(0.958) | TCGA-A7-A0DA-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
RIN2 | SNV | Missense_Mutation | | c.654N>G | p.Phe218Leu | p.F218L | Q8WYP3 | protein_coding | deleterious(0) | probably_damaging(0.994) | TCGA-AN-A0FT-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
RIN2 | SNV | Missense_Mutation | novel | c.2069N>G | p.Val690Gly | p.V690G | Q8WYP3 | protein_coding | deleterious(0) | probably_damaging(0.958) | TCGA-BH-A1F8-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | PD |
RIN2 | SNV | Missense_Mutation | novel | c.2069T>G | p.Val690Gly | p.V690G | Q8WYP3 | protein_coding | deleterious(0) | probably_damaging(0.958) | TCGA-D8-A1XG-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
RIN2 | SNV | Missense_Mutation | novel | c.2069N>G | p.Val690Gly | p.V690G | Q8WYP3 | protein_coding | deleterious(0) | probably_damaging(0.958) | TCGA-D8-A1XO-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
RIN2 | insertion | Frame_Shift_Ins | novel | c.1867_1868insAGGAAGGAGAATCACTTGAACCTGGGAGGTGG | p.Leu623GlnfsTer19 | p.L623Qfs*19 | Q8WYP3 | protein_coding | | | TCGA-BH-A0B1-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | adriamycin | SD |
RIN2 | insertion | In_Frame_Ins | novel | c.1805_1806insACTTCCTCCTCC | p.Met602delinsIleLeuProProPro | p.M602delinsILPPP | Q8WYP3 | protein_coding | | | TCGA-BH-A0BJ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
RIN2 | insertion | Frame_Shift_Ins | novel | c.1806_1807insACTCGCTGGAGTTCGACCGGAGCATGCCT | p.Leu603ThrfsTer18 | p.L603Tfs*18 | Q8WYP3 | protein_coding | | | TCGA-BH-A0BJ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |