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:004209817 | Oral cavity | EOLP | T cell proliferation | 44/2218 | 199/18723 | 2.86e-05 | 4.14e-04 | 44 |
GO:00507321 | Oral cavity | EOLP | negative regulation of peptidyl-tyrosine phosphorylation | 19/2218 | 59/18723 | 2.95e-05 | 4.24e-04 | 19 |
GO:190007611 | Oral cavity | EOLP | regulation of cellular response to insulin stimulus | 20/2218 | 64/18723 | 3.01e-05 | 4.30e-04 | 20 |
GO:003530712 | Oral cavity | EOLP | positive regulation of protein dephosphorylation | 16/2218 | 45/18723 | 3.15e-05 | 4.46e-04 | 16 |
GO:007149625 | Oral cavity | EOLP | cellular response to external stimulus | 63/2218 | 320/18723 | 3.18e-05 | 4.49e-04 | 63 |
GO:004665112 | Oral cavity | EOLP | lymphocyte proliferation | 58/2218 | 288/18723 | 3.29e-05 | 4.63e-04 | 58 |
GO:001063923 | Oral cavity | EOLP | negative regulation of organelle organization | 67/2218 | 348/18723 | 3.78e-05 | 5.21e-04 | 67 |
GO:00313482 | Oral cavity | EOLP | negative regulation of defense response | 53/2218 | 258/18723 | 4.05e-05 | 5.54e-04 | 53 |
GO:002240918 | Oral cavity | EOLP | positive regulation of cell-cell adhesion | 57/2218 | 284/18723 | 4.23e-05 | 5.77e-04 | 57 |
GO:003166823 | Oral cavity | EOLP | cellular response to extracellular stimulus | 51/2218 | 246/18723 | 4.36e-05 | 5.88e-04 | 51 |
GO:00486389 | Oral cavity | EOLP | regulation of developmental growth | 64/2218 | 330/18723 | 4.45e-05 | 5.96e-04 | 64 |
GO:00329436 | Oral cavity | EOLP | mononuclear cell proliferation | 58/2218 | 291/18723 | 4.48e-05 | 5.99e-04 | 58 |
GO:004858815 | Oral cavity | EOLP | developmental cell growth | 49/2218 | 234/18723 | 4.67e-05 | 6.20e-04 | 49 |
GO:00022633 | Oral cavity | EOLP | cell activation involved in immune response | 56/2218 | 279/18723 | 4.91e-05 | 6.47e-04 | 56 |
GO:000243111 | Oral cavity | EOLP | Fc receptor mediated stimulatory signaling pathway | 13/2218 | 33/18723 | 5.03e-05 | 6.55e-04 | 13 |
GO:190303419 | Oral cavity | EOLP | regulation of response to wounding | 38/2218 | 167/18723 | 5.06e-05 | 6.58e-04 | 38 |
GO:200125222 | Oral cavity | EOLP | positive regulation of chromosome organization | 23/2218 | 82/18723 | 5.42e-05 | 7.00e-04 | 23 |
GO:00325164 | Oral cavity | EOLP | positive regulation of phosphoprotein phosphatase activity | 10/2218 | 21/18723 | 5.45e-05 | 7.01e-04 | 10 |
GO:003545521 | Oral cavity | EOLP | response to interferon-alpha | 10/2218 | 21/18723 | 5.45e-05 | 7.01e-04 | 10 |
GO:00023662 | Oral cavity | EOLP | leukocyte activation involved in immune response | 55/2218 | 275/18723 | 6.32e-05 | 7.90e-04 | 55 |
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 |