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:005254727 | Skin | AK | regulation of peptidase activity | 88/1910 | 461/18723 | 4.65e-09 | 3.44e-07 | 88 |
GO:004586228 | Skin | AK | positive regulation of proteolysis | 74/1910 | 372/18723 | 1.32e-08 | 8.20e-07 | 74 |
GO:005254827 | Skin | AK | regulation of endopeptidase activity | 82/1910 | 432/18723 | 2.03e-08 | 1.18e-06 | 82 |
GO:00321038 | Skin | AK | positive regulation of response to external stimulus | 74/1910 | 427/18723 | 3.63e-06 | 9.07e-05 | 74 |
GO:001095226 | Skin | AK | positive regulation of peptidase activity | 39/1910 | 197/18723 | 3.82e-05 | 6.31e-04 | 39 |
GO:001095025 | Skin | AK | positive regulation of endopeptidase activity | 34/1910 | 179/18723 | 2.66e-04 | 2.86e-03 | 34 |
GO:00028319 | Skin | AK | regulation of response to biotic stimulus | 53/1910 | 327/18723 | 4.63e-04 | 4.31e-03 | 53 |
GO:003249620 | Skin | AK | response to lipopolysaccharide | 55/1910 | 343/18723 | 4.79e-04 | 4.44e-03 | 55 |
GO:000223720 | Skin | AK | response to molecule of bacterial origin | 56/1910 | 363/18723 | 1.10e-03 | 8.60e-03 | 56 |
GO:000181917 | Skin | AK | positive regulation of cytokine production | 67/1910 | 467/18723 | 2.59e-03 | 1.67e-02 | 67 |
GO:00450886 | Skin | AK | regulation of innate immune response | 34/1910 | 218/18723 | 8.06e-03 | 4.06e-02 | 34 |
GO:00313496 | Skin | AK | positive regulation of defense response | 41/1910 | 278/18723 | 1.02e-02 | 4.86e-02 | 41 |
GO:004586229 | Skin | cSCC | positive regulation of proteolysis | 169/4864 | 372/18723 | 2.43e-16 | 2.21e-14 | 169 |
GO:005254728 | Skin | cSCC | regulation of peptidase activity | 177/4864 | 461/18723 | 2.21e-09 | 8.02e-08 | 177 |
GO:005254828 | Skin | cSCC | regulation of endopeptidase activity | 165/4864 | 432/18723 | 1.18e-08 | 3.63e-07 | 165 |
GO:001095227 | Skin | cSCC | positive regulation of peptidase activity | 85/4864 | 197/18723 | 1.14e-07 | 2.69e-06 | 85 |
GO:000195224 | Skin | cSCC | regulation of cell-matrix adhesion | 57/4864 | 128/18723 | 4.07e-06 | 6.07e-05 | 57 |
GO:001081027 | Skin | cSCC | regulation of cell-substrate adhesion | 88/4864 | 221/18723 | 4.26e-06 | 6.32e-05 | 88 |
GO:0010950112 | Skin | cSCC | positive regulation of endopeptidase activity | 74/4864 | 179/18723 | 4.98e-06 | 7.25e-05 | 74 |
GO:003158926 | Skin | cSCC | cell-substrate adhesion | 130/4864 | 363/18723 | 1.87e-05 | 2.23e-04 | 130 |
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 |