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:00009105 | Liver | Cirrhotic | cytokinesis | 62/4634 | 173/18723 | 7.13e-04 | 5.33e-03 | 62 |
GO:1905521 | Liver | Cirrhotic | regulation of macrophage migration | 20/4634 | 41/18723 | 7.37e-04 | 5.44e-03 | 20 |
GO:000680511 | Liver | Cirrhotic | xenobiotic metabolic process | 43/4634 | 111/18723 | 7.51e-04 | 5.54e-03 | 43 |
GO:00971783 | Liver | Cirrhotic | ruffle assembly | 21/4634 | 44/18723 | 7.88e-04 | 5.79e-03 | 21 |
GO:003223112 | Liver | Cirrhotic | regulation of actin filament bundle assembly | 41/4634 | 105/18723 | 8.18e-04 | 5.97e-03 | 41 |
GO:199009011 | Liver | Cirrhotic | cellular response to nerve growth factor stimulus | 24/4634 | 53/18723 | 8.86e-04 | 6.37e-03 | 24 |
GO:00713336 | Liver | Cirrhotic | cellular response to glucose stimulus | 55/4634 | 151/18723 | 8.93e-04 | 6.41e-03 | 55 |
GO:005165011 | Liver | Cirrhotic | establishment of vesicle localization | 58/4634 | 161/18723 | 8.98e-04 | 6.44e-03 | 58 |
GO:199008911 | Liver | Cirrhotic | response to nerve growth factor | 25/4634 | 56/18723 | 9.03e-04 | 6.46e-03 | 25 |
GO:00066371 | Liver | Cirrhotic | acyl-CoA metabolic process | 38/4634 | 96/18723 | 9.23e-04 | 6.57e-03 | 38 |
GO:00353831 | Liver | Cirrhotic | thioester metabolic process | 38/4634 | 96/18723 | 9.23e-04 | 6.57e-03 | 38 |
GO:00092666 | Liver | Cirrhotic | response to temperature stimulus | 63/4634 | 178/18723 | 9.38e-04 | 6.66e-03 | 63 |
GO:009026311 | Liver | Cirrhotic | positive regulation of canonical Wnt signaling pathway | 41/4634 | 106/18723 | 1.02e-03 | 7.16e-03 | 41 |
GO:000167812 | Liver | Cirrhotic | cellular glucose homeostasis | 61/4634 | 172/18723 | 1.06e-03 | 7.40e-03 | 61 |
GO:000828611 | Liver | Cirrhotic | insulin receptor signaling pathway | 44/4634 | 116/18723 | 1.09e-03 | 7.59e-03 | 44 |
GO:004259312 | Liver | Cirrhotic | glucose homeostasis | 86/4634 | 258/18723 | 1.12e-03 | 7.73e-03 | 86 |
GO:0046112 | Liver | Cirrhotic | nucleobase biosynthetic process | 11/4634 | 18/18723 | 1.13e-03 | 7.73e-03 | 11 |
GO:190336311 | Liver | Cirrhotic | negative regulation of cellular protein catabolic process | 31/4634 | 75/18723 | 1.15e-03 | 7.84e-03 | 31 |
GO:00067212 | Liver | Cirrhotic | terpenoid metabolic process | 38/4634 | 97/18723 | 1.16e-03 | 7.89e-03 | 38 |
GO:00725225 | Liver | Cirrhotic | purine-containing compound biosynthetic process | 69/4634 | 200/18723 | 1.22e-03 | 8.24e-03 | 69 |
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 |