Tissue | Expression Dynamics | Abbreviation |
Breast | | IDC: Invasive ductal carcinoma |
DCIS: Ductal carcinoma in situ |
Precancer(BRCA1-mut): Precancerous lesion from BRCA1 mutation carriers |
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 |
Endometrium | | AEH: Atypical endometrial hyperplasia |
EEC: Endometrioid 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 |
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:00481933 | Colorectum | MSI-H | Golgi vesicle transport | 39/1319 | 296/18723 | 1.17e-04 | 3.51e-03 | 39 |
GO:20012443 | Colorectum | MSI-H | positive regulation of intrinsic apoptotic signaling pathway | 13/1319 | 58/18723 | 1.58e-04 | 4.52e-03 | 13 |
GO:20000603 | Colorectum | MSI-H | positive regulation of ubiquitin-dependent protein catabolic process | 19/1319 | 107/18723 | 1.59e-04 | 4.52e-03 | 19 |
GO:19058973 | Colorectum | MSI-H | regulation of response to endoplasmic reticulum stress | 16/1319 | 82/18723 | 1.67e-04 | 4.69e-03 | 16 |
GO:19032043 | Colorectum | MSI-H | negative regulation of oxidative stress-induced neuron death | 7/1319 | 19/18723 | 2.01e-04 | 5.31e-03 | 7 |
GO:19032021 | Colorectum | MSI-H | negative regulation of oxidative stress-induced cell death | 12/1319 | 53/18723 | 2.53e-04 | 6.54e-03 | 12 |
GO:00342843 | Colorectum | MSI-H | response to monosaccharide | 31/1319 | 225/18723 | 2.56e-04 | 6.57e-03 | 31 |
GO:00109523 | Colorectum | MSI-H | positive regulation of peptidase activity | 28/1319 | 197/18723 | 2.97e-04 | 7.27e-03 | 28 |
GO:19032033 | Colorectum | MSI-H | regulation of oxidative stress-induced neuron death | 8/1319 | 27/18723 | 3.93e-04 | 8.91e-03 | 8 |
GO:19030523 | Colorectum | MSI-H | positive regulation of proteolysis involved in cellular protein catabolic process | 21/1319 | 133/18723 | 3.99e-04 | 8.98e-03 | 21 |
GO:00097433 | Colorectum | MSI-H | response to carbohydrate | 33/1319 | 253/18723 | 4.53e-04 | 9.61e-03 | 33 |
GO:00324363 | Colorectum | MSI-H | positive regulation of proteasomal ubiquitin-dependent protein catabolic process | 16/1319 | 90/18723 | 5.03e-04 | 1.05e-02 | 16 |
GO:00423263 | Colorectum | MSI-H | negative regulation of phosphorylation | 45/1319 | 385/18723 | 5.71e-04 | 1.14e-02 | 45 |
GO:19907783 | Colorectum | MSI-H | protein localization to cell periphery | 40/1319 | 333/18723 | 6.61e-04 | 1.27e-02 | 40 |
GO:19035733 | Colorectum | MSI-H | negative regulation of response to endoplasmic reticulum stress | 10/1319 | 44/18723 | 7.92e-04 | 1.46e-02 | 10 |
GO:19018003 | Colorectum | MSI-H | positive regulation of proteasomal protein catabolic process | 18/1319 | 114/18723 | 1.01e-03 | 1.73e-02 | 18 |
GO:00364753 | Colorectum | MSI-H | neuron death in response to oxidative stress | 8/1319 | 31/18723 | 1.08e-03 | 1.84e-02 | 8 |
GO:00019333 | Colorectum | MSI-H | negative regulation of protein phosphorylation | 40/1319 | 342/18723 | 1.11e-03 | 1.86e-02 | 40 |
GO:00346143 | Colorectum | MSI-H | cellular response to reactive oxygen species | 22/1319 | 155/18723 | 1.28e-03 | 2.03e-02 | 22 |
GO:00901503 | Colorectum | MSI-H | establishment of protein localization to membrane | 32/1319 | 260/18723 | 1.47e-03 | 2.23e-02 | 32 |
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 |
RACK1 | SNV | Missense_Mutation | | c.260N>G | p.Leu87Arg | p.L87R | P63244 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-A2-A0SW-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | arimidex | PD |
RACK1 | SNV | Missense_Mutation | novel | c.923N>C | p.Arg308Pro | p.R308P | P63244 | protein_coding | deleterious(0) | probably_damaging(0.977) | TCGA-A7-A13E-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Targeted Molecular therapy | bevacizumab | PD |
RACK1 | SNV | Missense_Mutation | | c.357N>T | p.Gln119His | p.Q119H | P63244 | protein_coding | deleterious(0.01) | possibly_damaging(0.905) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
RACK1 | SNV | Missense_Mutation | rs745953408 | c.53N>G | p.Val18Gly | p.V18G | P63244 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-BH-A1F2-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
RACK1 | SNV | Missense_Mutation | novel | c.32N>C | p.Leu11Pro | p.L11P | P63244 | protein_coding | deleterious(0) | probably_damaging(0.955) | TCGA-D8-A142-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | cyclophosphamid | SD |
RACK1 | SNV | Missense_Mutation | rs745953408 | c.53N>G | p.Val18Gly | p.V18G | P63244 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-EW-A1IW-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | aromasin | SD |
RACK1 | insertion | Frame_Shift_Ins | novel | c.819_820insCTTAATTCAAAACTAATTTATTCCTCAGGTCAAAAGTTTTGGGGTGG | p.Val274LeufsTer55 | p.V274Lfs*55 | P63244 | protein_coding | | | TCGA-A2-A0EO-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
RACK1 | insertion | Nonsense_Mutation | novel | c.799_800insGAGCCTTATCACCAGCTGTTTCTTCCTCAAGGAATACATAACCAC | p.Val267delinsGlyAlaLeuSerProAlaValSerSerSerArgAsnThrTerProLeu | p.V267delinsGALSPAVSSSRNT*PL | P63244 | protein_coding | | | TCGA-BH-A0DS-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | cyclophosphamide | SD |
RACK1 | deletion | Frame_Shift_Del | novel | c.334delN | p.Ala112ProfsTer73 | p.A112Pfs*73 | P63244 | protein_coding | | | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
RACK1 | SNV | Missense_Mutation | novel | c.262N>T | p.Arg88Cys | p.R88C | P63244 | protein_coding | deleterious(0.02) | benign(0.071) | TCGA-MA-AA42-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Unknown | Unknown | SD |