Tissue | Expression Dynamics | Abbreviation |
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 |
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:000697912 | Liver | Cirrhotic | response to oxidative stress | 196/4634 | 446/18723 | 2.80e-19 | 5.86e-17 | 196 |
GO:000188912 | Liver | Cirrhotic | liver development | 81/4634 | 147/18723 | 2.99e-15 | 3.35e-13 | 81 |
GO:006100812 | Liver | Cirrhotic | hepaticobiliary system development | 82/4634 | 150/18723 | 3.72e-15 | 4.09e-13 | 82 |
GO:006219712 | Liver | Cirrhotic | cellular response to chemical stress | 147/4634 | 337/18723 | 1.84e-14 | 1.72e-12 | 147 |
GO:003459912 | Liver | Cirrhotic | cellular response to oxidative stress | 127/4634 | 288/18723 | 4.29e-13 | 3.32e-11 | 127 |
GO:001003812 | Liver | Cirrhotic | response to metal ion | 150/4634 | 373/18723 | 2.27e-11 | 1.37e-09 | 150 |
GO:000030212 | Liver | Cirrhotic | response to reactive oxygen species | 100/4634 | 222/18723 | 2.92e-11 | 1.73e-09 | 100 |
GO:00346147 | Liver | Cirrhotic | cellular response to reactive oxygen species | 70/4634 | 155/18723 | 2.27e-08 | 7.91e-07 | 70 |
GO:00017015 | Liver | Cirrhotic | in utero embryonic development | 134/4634 | 367/18723 | 2.78e-07 | 6.86e-06 | 134 |
GO:00451857 | Liver | Cirrhotic | maintenance of protein location | 46/4634 | 94/18723 | 3.31e-07 | 7.90e-06 | 46 |
GO:004873212 | Liver | Cirrhotic | gland development | 154/4634 | 436/18723 | 4.03e-07 | 9.42e-06 | 154 |
GO:005123511 | Liver | Cirrhotic | maintenance of location | 117/4634 | 327/18723 | 4.78e-06 | 7.86e-05 | 117 |
GO:00073463 | Liver | Cirrhotic | regulation of mitotic cell cycle | 154/4634 | 457/18723 | 8.73e-06 | 1.29e-04 | 154 |
GO:005159211 | Liver | Cirrhotic | response to calcium ion | 61/4634 | 149/18723 | 9.47e-06 | 1.38e-04 | 61 |
GO:001605511 | Liver | Cirrhotic | Wnt signaling pathway | 150/4634 | 444/18723 | 9.75e-06 | 1.42e-04 | 150 |
GO:019873811 | Liver | Cirrhotic | cell-cell signaling by wnt | 150/4634 | 446/18723 | 1.28e-05 | 1.80e-04 | 150 |
GO:007121411 | Liver | Cirrhotic | cellular response to abiotic stimulus | 115/4634 | 331/18723 | 2.62e-05 | 3.38e-04 | 115 |
GO:010400411 | Liver | Cirrhotic | cellular response to environmental stimulus | 115/4634 | 331/18723 | 2.62e-05 | 3.38e-04 | 115 |
GO:00018905 | Liver | Cirrhotic | placenta development | 57/4634 | 144/18723 | 5.74e-05 | 6.58e-04 | 57 |
GO:00712487 | Liver | Cirrhotic | cellular response to metal ion | 73/4634 | 197/18723 | 7.73e-05 | 8.54e-04 | 73 |
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 |
PKD2 | SNV | Missense_Mutation | novel | c.2656N>A | p.Asp886Asn | p.D886N | Q13563 | protein_coding | tolerated(0.08) | possibly_damaging(0.734) | TCGA-AJ-A3EK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | CR |
PKD2 | SNV | Missense_Mutation | | c.2819N>A | p.Arg940His | p.R940H | Q13563 | protein_coding | tolerated(0.11) | benign(0.001) | TCGA-AJ-A3EL-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PKD2 | SNV | Missense_Mutation | | c.2262N>C | p.Glu754Asp | p.E754D | Q13563 | protein_coding | deleterious(0.05) | benign(0.161) | TCGA-AJ-A3TW-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
PKD2 | SNV | Missense_Mutation | | c.964N>T | p.Arg322Trp | p.R322W | Q13563 | protein_coding | deleterious(0.01) | probably_damaging(1) | TCGA-AP-A056-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PKD2 | SNV | Missense_Mutation | | c.2094N>T | p.Met698Ile | p.M698I | Q13563 | protein_coding | tolerated(0.08) | benign(0.081) | TCGA-AP-A056-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PKD2 | SNV | Missense_Mutation | rs770308463 | c.2218N>A | p.Glu740Lys | p.E740K | Q13563 | protein_coding | deleterious(0.02) | possibly_damaging(0.803) | TCGA-AP-A056-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PKD2 | SNV | Missense_Mutation | rs766821096 | c.2587G>A | p.Val863Met | p.V863M | Q13563 | protein_coding | deleterious(0.03) | probably_damaging(0.994) | TCGA-AX-A3FT-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PKD2 | SNV | Missense_Mutation | | c.2262N>T | p.Glu754Asp | p.E754D | Q13563 | protein_coding | deleterious(0.05) | benign(0.161) | TCGA-B5-A0JY-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | SD |
PKD2 | SNV | Missense_Mutation | | c.2384N>A | p.Ser795Tyr | p.S795Y | Q13563 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-B5-A0JY-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | SD |
PKD2 | SNV | Missense_Mutation | | c.2572T>C | p.Ser858Pro | p.S858P | Q13563 | protein_coding | deleterious(0.02) | probably_damaging(0.986) | TCGA-B5-A3FC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |