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 |
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:00903161 | Colorectum | SER | positive regulation of intracellular protein transport | 52/2897 | 160/18723 | 5.64e-08 | 3.72e-06 | 52 |
GO:19001801 | Colorectum | SER | regulation of protein localization to nucleus | 46/2897 | 136/18723 | 8.50e-08 | 5.27e-06 | 46 |
GO:00003021 | Colorectum | SER | response to reactive oxygen species | 65/2897 | 222/18723 | 1.21e-07 | 7.29e-06 | 65 |
GO:00323861 | Colorectum | SER | regulation of intracellular transport | 89/2897 | 337/18723 | 1.34e-07 | 7.96e-06 | 89 |
GO:00020641 | Colorectum | SER | epithelial cell development | 64/2897 | 220/18723 | 1.96e-07 | 1.10e-05 | 64 |
GO:00108101 | Colorectum | SER | regulation of cell-substrate adhesion | 64/2897 | 221/18723 | 2.34e-07 | 1.29e-05 | 64 |
GO:19001821 | Colorectum | SER | positive regulation of protein localization to nucleus | 33/2897 | 87/18723 | 2.81e-07 | 1.52e-05 | 33 |
GO:00106391 | Colorectum | SER | negative regulation of organelle organization | 90/2897 | 348/18723 | 3.14e-07 | 1.69e-05 | 90 |
GO:00323881 | Colorectum | SER | positive regulation of intracellular transport | 59/2897 | 202/18723 | 4.98e-07 | 2.48e-05 | 59 |
GO:00621971 | Colorectum | SER | cellular response to chemical stress | 87/2897 | 337/18723 | 5.33e-07 | 2.59e-05 | 87 |
GO:00070431 | Colorectum | SER | cell-cell junction assembly | 45/2897 | 146/18723 | 2.23e-06 | 9.31e-05 | 45 |
GO:00069131 | Colorectum | SER | nucleocytoplasmic transport | 77/2897 | 301/18723 | 3.39e-06 | 1.32e-04 | 77 |
GO:00511691 | Colorectum | SER | nuclear transport | 77/2897 | 301/18723 | 3.39e-06 | 1.32e-04 | 77 |
GO:00343291 | Colorectum | SER | cell junction assembly | 100/2897 | 420/18723 | 4.23e-06 | 1.61e-04 | 100 |
GO:00513481 | Colorectum | SER | negative regulation of transferase activity | 70/2897 | 268/18723 | 4.27e-06 | 1.62e-04 | 70 |
GO:01501151 | Colorectum | SER | cell-substrate junction organization | 34/2897 | 101/18723 | 4.46e-06 | 1.67e-04 | 34 |
GO:00345041 | Colorectum | SER | protein localization to nucleus | 74/2897 | 290/18723 | 5.74e-06 | 2.05e-04 | 74 |
GO:00345991 | Colorectum | SER | cellular response to oxidative stress | 73/2897 | 288/18723 | 8.52e-06 | 2.86e-04 | 73 |
GO:00433931 | Colorectum | SER | regulation of protein binding | 54/2897 | 196/18723 | 1.00e-05 | 3.31e-04 | 54 |
GO:00468221 | Colorectum | SER | regulation of nucleocytoplasmic transport | 34/2897 | 106/18723 | 1.46e-05 | 4.47e-04 | 34 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa05014 | Colorectum | AD | Amyotrophic lateral sclerosis | 164/2092 | 364/8465 | 4.28e-18 | 1.27e-16 | 8.09e-17 | 164 |
hsa05216 | Colorectum | AD | Thyroid cancer | 21/2092 | 37/8465 | 3.05e-05 | 2.76e-04 | 1.76e-04 | 21 |
hsa050141 | Colorectum | AD | Amyotrophic lateral sclerosis | 164/2092 | 364/8465 | 4.28e-18 | 1.27e-16 | 8.09e-17 | 164 |
hsa052161 | Colorectum | AD | Thyroid cancer | 21/2092 | 37/8465 | 3.05e-05 | 2.76e-04 | 1.76e-04 | 21 |
hsa050142 | Colorectum | SER | Amyotrophic lateral sclerosis | 138/1580 | 364/8465 | 9.89e-19 | 2.99e-17 | 2.17e-17 | 138 |
hsa050143 | Colorectum | SER | Amyotrophic lateral sclerosis | 138/1580 | 364/8465 | 9.89e-19 | 2.99e-17 | 2.17e-17 | 138 |
hsa050144 | Colorectum | MSS | Amyotrophic lateral sclerosis | 156/1875 | 364/8465 | 1.43e-19 | 4.62e-18 | 2.83e-18 | 156 |
hsa052162 | Colorectum | MSS | Thyroid cancer | 21/1875 | 37/8465 | 4.98e-06 | 6.00e-05 | 3.68e-05 | 21 |
hsa050145 | Colorectum | MSS | Amyotrophic lateral sclerosis | 156/1875 | 364/8465 | 1.43e-19 | 4.62e-18 | 2.83e-18 | 156 |
hsa052163 | Colorectum | MSS | Thyroid cancer | 21/1875 | 37/8465 | 4.98e-06 | 6.00e-05 | 3.68e-05 | 21 |
hsa050148 | Colorectum | FAP | Amyotrophic lateral sclerosis | 91/1404 | 364/8465 | 1.84e-05 | 2.36e-04 | 1.44e-04 | 91 |
hsa052164 | Colorectum | FAP | Thyroid cancer | 12/1404 | 37/8465 | 1.33e-02 | 4.46e-02 | 2.71e-02 | 12 |
hsa050149 | Colorectum | FAP | Amyotrophic lateral sclerosis | 91/1404 | 364/8465 | 1.84e-05 | 2.36e-04 | 1.44e-04 | 91 |
hsa052165 | Colorectum | FAP | Thyroid cancer | 12/1404 | 37/8465 | 1.33e-02 | 4.46e-02 | 2.71e-02 | 12 |
hsa0501420 | Endometrium | AEH | Amyotrophic lateral sclerosis | 123/1197 | 364/8465 | 2.17e-22 | 7.82e-21 | 5.72e-21 | 123 |
hsa0521610 | Endometrium | AEH | Thyroid cancer | 12/1197 | 37/8465 | 3.68e-03 | 2.14e-02 | 1.56e-02 | 12 |
hsa05014110 | Endometrium | AEH | Amyotrophic lateral sclerosis | 123/1197 | 364/8465 | 2.17e-22 | 7.82e-21 | 5.72e-21 | 123 |
hsa0521615 | Endometrium | AEH | Thyroid cancer | 12/1197 | 37/8465 | 3.68e-03 | 2.14e-02 | 1.56e-02 | 12 |
hsa0501425 | Endometrium | EEC | Amyotrophic lateral sclerosis | 128/1237 | 364/8465 | 9.83e-24 | 4.04e-22 | 3.01e-22 | 128 |
hsa0521625 | Endometrium | EEC | Thyroid cancer | 13/1237 | 37/8465 | 1.51e-03 | 9.55e-03 | 7.12e-03 | 13 |
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 |
TPR | SNV | Missense_Mutation | novel | c.1112N>G | p.Ser371Cys | p.S371C | P12270 | protein_coding | deleterious(0) | possibly_damaging(0.785) | TCGA-A2-A0D0-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
TPR | SNV | Missense_Mutation | | c.4793N>C | p.Arg1598Pro | p.R1598P | P12270 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-A2-A0YF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unspecific | Arimidex | SD |
TPR | SNV | Missense_Mutation | novel | c.2186A>T | p.Gln729Leu | p.Q729L | P12270 | protein_coding | deleterious(0) | probably_damaging(0.977) | TCGA-A2-A3XT-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | PR |
TPR | SNV | Missense_Mutation | | c.6664G>A | p.Val2222Met | p.V2222M | P12270 | protein_coding | deleterious(0.04) | probably_damaging(0.995) | TCGA-A8-A06R-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | 5-fluorouracil | CR |
TPR | SNV | Missense_Mutation | | c.3061N>C | p.Asp1021His | p.D1021H | P12270 | protein_coding | deleterious(0) | benign(0.188) | TCGA-A8-A06U-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
TPR | SNV | Missense_Mutation | | c.4888G>A | p.Glu1630Lys | p.E1630K | P12270 | protein_coding | deleterious(0.01) | probably_damaging(0.985) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
TPR | SNV | Missense_Mutation | rs533241956 | c.5459C>T | p.Ser1820Leu | p.S1820L | P12270 | protein_coding | tolerated(0.05) | benign(0.288) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
TPR | SNV | Missense_Mutation | | c.4647N>T | p.Lys1549Asn | p.K1549N | P12270 | protein_coding | deleterious(0) | probably_damaging(0.994) | TCGA-AN-A0FW-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
TPR | SNV | Missense_Mutation | novel | c.5465N>A | p.Thr1822Asn | p.T1822N | P12270 | protein_coding | deleterious(0) | possibly_damaging(0.852) | TCGA-AN-A0G0-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
TPR | SNV | Missense_Mutation | novel | c.1503N>T | p.Arg501Ser | p.R501S | P12270 | protein_coding | tolerated(0.19) | possibly_damaging(0.838) | TCGA-AO-A128-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |