Tissue | Expression Dynamics | Abbreviation |
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 |
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:007259410 | Endometrium | AEH | establishment of protein localization to organelle | 89/2100 | 422/18723 | 2.41e-09 | 1.90e-07 | 89 |
GO:004586216 | Endometrium | AEH | positive regulation of proteolysis | 81/2100 | 372/18723 | 2.72e-09 | 2.06e-07 | 81 |
GO:200005816 | Endometrium | AEH | regulation of ubiquitin-dependent protein catabolic process | 45/2100 | 164/18723 | 7.49e-09 | 5.22e-07 | 45 |
GO:006113616 | Endometrium | AEH | regulation of proteasomal protein catabolic process | 49/2100 | 187/18723 | 8.64e-09 | 5.96e-07 | 49 |
GO:00614589 | Endometrium | AEH | reproductive system development | 88/2100 | 427/18723 | 9.50e-09 | 6.41e-07 | 88 |
GO:000641716 | Endometrium | AEH | regulation of translation | 94/2100 | 468/18723 | 1.14e-08 | 7.62e-07 | 94 |
GO:003295616 | Endometrium | AEH | regulation of actin cytoskeleton organization | 77/2100 | 358/18723 | 1.18e-08 | 7.76e-07 | 77 |
GO:00486089 | Endometrium | AEH | reproductive structure development | 87/2100 | 424/18723 | 1.43e-08 | 9.12e-07 | 87 |
GO:004573216 | Endometrium | AEH | positive regulation of protein catabolic process | 56/2100 | 231/18723 | 1.60e-08 | 9.99e-07 | 56 |
GO:005109816 | Endometrium | AEH | regulation of binding | 77/2100 | 363/18723 | 2.21e-08 | 1.31e-06 | 77 |
GO:00605376 | Endometrium | AEH | muscle tissue development | 83/2100 | 403/18723 | 2.57e-08 | 1.50e-06 | 83 |
GO:001076910 | Endometrium | AEH | regulation of cell morphogenesis involved in differentiation | 31/2100 | 96/18723 | 2.70e-08 | 1.56e-06 | 31 |
GO:000640110 | Endometrium | AEH | RNA catabolic process | 63/2100 | 278/18723 | 3.28e-08 | 1.87e-06 | 63 |
GO:00301118 | Endometrium | AEH | regulation of Wnt signaling pathway | 71/2100 | 328/18723 | 3.31e-08 | 1.87e-06 | 71 |
GO:003444610 | Endometrium | AEH | substrate adhesion-dependent cell spreading | 33/2100 | 108/18723 | 4.45e-08 | 2.43e-06 | 33 |
GO:000660516 | Endometrium | AEH | protein targeting | 68/2100 | 314/18723 | 6.30e-08 | 3.38e-06 | 68 |
GO:007265914 | Endometrium | AEH | protein localization to plasma membrane | 63/2100 | 284/18723 | 7.58e-08 | 3.92e-06 | 63 |
GO:00018909 | Endometrium | AEH | placenta development | 39/2100 | 144/18723 | 1.07e-07 | 5.20e-06 | 39 |
GO:003243416 | Endometrium | AEH | regulation of proteasomal ubiquitin-dependent protein catabolic process | 37/2100 | 134/18723 | 1.32e-07 | 6.04e-06 | 37 |
GO:011005316 | Endometrium | AEH | regulation of actin filament organization | 61/2100 | 278/18723 | 1.83e-07 | 8.11e-06 | 61 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa01200 | Colorectum | AD | Carbon metabolism | 55/2092 | 115/8465 | 5.53e-08 | 8.42e-07 | 5.37e-07 | 55 |
hsa00020 | Colorectum | AD | Citrate cycle (TCA cycle) | 20/2092 | 30/8465 | 1.43e-06 | 1.77e-05 | 1.13e-05 | 20 |
hsa00630 | Colorectum | AD | Glyoxylate and dicarboxylate metabolism | 14/2092 | 30/8465 | 7.25e-03 | 2.97e-02 | 1.89e-02 | 14 |
hsa01230 | Colorectum | AD | Biosynthesis of amino acids | 28/2092 | 75/8465 | 9.99e-03 | 3.89e-02 | 2.48e-02 | 28 |
hsa012001 | Colorectum | AD | Carbon metabolism | 55/2092 | 115/8465 | 5.53e-08 | 8.42e-07 | 5.37e-07 | 55 |
hsa000201 | Colorectum | AD | Citrate cycle (TCA cycle) | 20/2092 | 30/8465 | 1.43e-06 | 1.77e-05 | 1.13e-05 | 20 |
hsa006301 | Colorectum | AD | Glyoxylate and dicarboxylate metabolism | 14/2092 | 30/8465 | 7.25e-03 | 2.97e-02 | 1.89e-02 | 14 |
hsa012301 | Colorectum | AD | Biosynthesis of amino acids | 28/2092 | 75/8465 | 9.99e-03 | 3.89e-02 | 2.48e-02 | 28 |
hsa012002 | Colorectum | SER | Carbon metabolism | 40/1580 | 115/8465 | 2.77e-05 | 3.41e-04 | 2.47e-04 | 40 |
hsa012302 | Colorectum | SER | Biosynthesis of amino acids | 23/1580 | 75/8465 | 8.11e-03 | 4.14e-02 | 3.01e-02 | 23 |
hsa012003 | Colorectum | SER | Carbon metabolism | 40/1580 | 115/8465 | 2.77e-05 | 3.41e-04 | 2.47e-04 | 40 |
hsa012303 | Colorectum | SER | Biosynthesis of amino acids | 23/1580 | 75/8465 | 8.11e-03 | 4.14e-02 | 3.01e-02 | 23 |
hsa012004 | Colorectum | MSS | Carbon metabolism | 43/1875 | 115/8465 | 1.37e-04 | 1.17e-03 | 7.19e-04 | 43 |
hsa012005 | Colorectum | MSS | Carbon metabolism | 43/1875 | 115/8465 | 1.37e-04 | 1.17e-03 | 7.19e-04 | 43 |
hsa006302 | Colorectum | MSI-H | Glyoxylate and dicarboxylate metabolism | 8/797 | 30/8465 | 5.34e-03 | 4.94e-02 | 4.14e-02 | 8 |
hsa006303 | Colorectum | MSI-H | Glyoxylate and dicarboxylate metabolism | 8/797 | 30/8465 | 5.34e-03 | 4.94e-02 | 4.14e-02 | 8 |
hsa012006 | Colorectum | FAP | Carbon metabolism | 38/1404 | 115/8465 | 1.04e-05 | 1.44e-04 | 8.76e-05 | 38 |
hsa000206 | Colorectum | FAP | Citrate cycle (TCA cycle) | 14/1404 | 30/8465 | 1.16e-04 | 1.02e-03 | 6.21e-04 | 14 |
hsa012007 | Colorectum | FAP | Carbon metabolism | 38/1404 | 115/8465 | 1.04e-05 | 1.44e-04 | 8.76e-05 | 38 |
hsa000207 | Colorectum | FAP | Citrate cycle (TCA cycle) | 14/1404 | 30/8465 | 1.16e-04 | 1.02e-03 | 6.21e-04 | 14 |
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 |
CS | SNV | Missense_Mutation | | c.964N>C | p.Asp322His | p.D322H | O75390 | protein_coding | tolerated(0.05) | benign(0.021) | TCGA-A2-A0CX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
CS | SNV | Missense_Mutation | novel | c.1363N>C | p.Glu455Gln | p.E455Q | O75390 | protein_coding | tolerated(0.18) | benign(0.04) | TCGA-AC-A5XS-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | femara | SD |
CS | SNV | Missense_Mutation | novel | c.820N>C | p.Thr274Pro | p.T274P | O75390 | protein_coding | deleterious(0.03) | probably_damaging(0.976) | TCGA-D8-A1JM-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | ChemotherapyHormone Therapy | doxorubicine | SD |
CS | insertion | Frame_Shift_Ins | novel | c.323_324insCAGTCAGTCAT | p.Lys109SerfsTer20 | p.K109Sfs*20 | O75390 | protein_coding | | | TCGA-A8-A06P-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unspecific | | SD |
CS | insertion | In_Frame_Ins | novel | c.321_322insTCTAGGAGGACTAAT | p.Lys107_Ala108insSerArgArgThrAsn | p.K107_A108insSRRTN | O75390 | protein_coding | | | TCGA-A8-A06P-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unspecific | | SD |
CS | SNV | Missense_Mutation | novel | c.1374G>T | p.Met458Ile | p.M458I | O75390 | protein_coding | tolerated(0.31) | benign(0) | TCGA-VS-A9UP-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | PD |
CS | SNV | Missense_Mutation | | c.91N>G | p.Thr31Ala | p.T31A | O75390 | protein_coding | tolerated(0.54) | benign(0) | TCGA-A6-2686-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CS | SNV | Missense_Mutation | | c.1327N>T | p.Gly443Cys | p.G443C | O75390 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-AD-5900-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
CS | SNV | Missense_Mutation | rs779289848 | c.274N>T | p.Arg92Cys | p.R92C | O75390 | protein_coding | deleterious(0.03) | benign(0.154) | TCGA-AZ-4615-01 | Colorectum | colon adenocarcinoma | Male | >=65 | III/IV | Chemotherapy | xeloda | PD |
CS | SNV | Missense_Mutation | rs140943640 | c.370G>A | p.Val124Ile | p.V124I | O75390 | protein_coding | tolerated(0.08) | benign(0.011) | TCGA-CK-4951-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |