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 |
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:19017963 | Colorectum | MSI-H | regulation of signal transduction by p53 class mediator | 22/1319 | 93/18723 | 3.60e-07 | 2.78e-05 | 22 |
GO:00723323 | Colorectum | MSI-H | intrinsic apoptotic signaling pathway by p53 class mediator | 19/1319 | 76/18723 | 9.03e-07 | 6.52e-05 | 19 |
GO:00723313 | Colorectum | MSI-H | signal transduction by p53 class mediator | 29/1319 | 163/18723 | 3.27e-06 | 1.82e-04 | 29 |
GO:19017983 | Colorectum | MSI-H | positive regulation of signal transduction by p53 class mediator | 10/1319 | 25/18723 | 3.57e-06 | 1.95e-04 | 10 |
GO:00064033 | Colorectum | MSI-H | RNA localization | 31/1319 | 201/18723 | 3.04e-05 | 1.20e-03 | 31 |
GO:00017313 | Colorectum | MSI-H | formation of translation preinitiation complex | 6/1319 | 11/18723 | 4.10e-05 | 1.51e-03 | 6 |
GO:20012443 | Colorectum | MSI-H | positive regulation of intrinsic apoptotic signaling pathway | 13/1319 | 58/18723 | 1.58e-04 | 4.52e-03 | 13 |
GO:00159313 | Colorectum | MSI-H | nucleobase-containing compound transport | 30/1319 | 222/18723 | 4.45e-04 | 9.50e-03 | 30 |
GO:00506573 | Colorectum | MSI-H | nucleic acid transport | 23/1319 | 163/18723 | 1.09e-03 | 1.84e-02 | 23 |
GO:00506583 | Colorectum | MSI-H | RNA transport | 23/1319 | 163/18723 | 1.09e-03 | 1.84e-02 | 23 |
GO:00512363 | Colorectum | MSI-H | establishment of RNA localization | 23/1319 | 166/18723 | 1.40e-03 | 2.19e-02 | 23 |
GO:00329843 | Colorectum | MSI-H | protein-containing complex disassembly | 28/1319 | 224/18723 | 2.24e-03 | 3.01e-02 | 28 |
GO:00224113 | Colorectum | MSI-H | cellular component disassembly | 47/1319 | 443/18723 | 3.26e-03 | 3.99e-02 | 47 |
GO:0009615 | Colorectum | MSI-H | response to virus | 40/1319 | 367/18723 | 3.99e-03 | 4.61e-02 | 40 |
GO:00021814 | Colorectum | FAP | cytoplasmic translation | 76/2622 | 148/18723 | 3.31e-27 | 2.03e-23 | 76 |
GO:00064174 | Colorectum | FAP | regulation of translation | 111/2622 | 468/18723 | 8.47e-09 | 1.13e-06 | 111 |
GO:00430873 | Colorectum | FAP | regulation of GTPase activity | 85/2622 | 348/18723 | 1.20e-07 | 7.68e-06 | 85 |
GO:00718264 | Colorectum | FAP | ribonucleoprotein complex subunit organization | 59/2622 | 227/18723 | 1.18e-06 | 5.26e-05 | 59 |
GO:00226184 | Colorectum | FAP | ribonucleoprotein complex assembly | 57/2622 | 220/18723 | 1.99e-06 | 8.03e-05 | 57 |
GO:00021834 | Colorectum | FAP | cytoplasmic translational initiation | 16/2622 | 34/18723 | 3.74e-06 | 1.29e-04 | 16 |
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 |
EIF5 | SNV | Missense_Mutation | | c.39C>G | p.Phe13Leu | p.F13L | P55010 | protein_coding | deleterious(0.03) | possibly_damaging(0.558) | TCGA-A2-A0YL-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cytoxan | SD |
EIF5 | SNV | Missense_Mutation | | c.238C>T | p.His80Tyr | p.H80Y | P55010 | protein_coding | deleterious(0) | benign(0.277) | TCGA-A2-A0YL-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cytoxan | SD |
EIF5 | SNV | Missense_Mutation | rs779336285 | c.124G>A | p.Val42Ile | p.V42I | P55010 | protein_coding | tolerated(0.55) | benign(0.013) | TCGA-D8-A1JD-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
EIF5 | SNV | Missense_Mutation | | c.33N>G | p.Asp11Glu | p.D11E | P55010 | protein_coding | deleterious(0) | possibly_damaging(0.87) | TCGA-E2-A14O-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | arimidex | SD |
EIF5 | insertion | In_Frame_Ins | novel | c.321_322insTGTCTTGCAGCTTATTCGCCTCAT | p.Thr107_Asp108insCysLeuAlaAlaTyrSerProHis | p.T107_D108insCLAAYSPH | P55010 | protein_coding | | | TCGA-A7-A0CE-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
EIF5 | insertion | Nonsense_Mutation | novel | c.507_508insCGAGGTCAGGAGTTCTAGACCAGCCTAGCCAACAT | p.Asn170ArgfsTer6 | p.N170Rfs*6 | P55010 | protein_coding | | | TCGA-A8-A09W-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
EIF5 | insertion | Nonsense_Mutation | novel | c.311_312insCGTCTGATTGCCAAGGTAATAAACTGCTCTTCAATTTAGT | p.Pro105ValfsTer2 | p.P105Vfs*2 | P55010 | protein_coding | | | TCGA-A8-A09X-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
EIF5 | SNV | Missense_Mutation | novel | c.1204N>A | p.Glu402Lys | p.E402K | P55010 | protein_coding | deleterious(0.02) | benign(0.173) | TCGA-C5-A1MN-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |
EIF5 | SNV | Missense_Mutation | novel | c.89N>G | p.Asn30Ser | p.N30S | P55010 | protein_coding | deleterious(0) | probably_damaging(0.946) | TCGA-MA-AA3Z-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
EIF5 | SNV | Missense_Mutation | novel | c.173N>T | p.Gly58Val | p.G58V | P55010 | protein_coding | deleterious(0) | benign(0.267) | TCGA-VS-A9V5-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | carboplatin | PD |