GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:001604926 | Thyroid | HT | cell growth | 58/1272 | 482/18723 | 1.56e-05 | 3.82e-04 | 58 |
GO:000155825 | Thyroid | HT | regulation of cell growth | 47/1272 | 414/18723 | 3.77e-04 | 4.76e-03 | 47 |
GO:00459269 | Thyroid | HT | negative regulation of growth | 31/1272 | 249/18723 | 8.02e-04 | 8.75e-03 | 31 |
GO:001605520 | Thyroid | HT | Wnt signaling pathway | 48/1272 | 444/18723 | 9.68e-04 | 9.93e-03 | 48 |
GO:019873820 | Thyroid | HT | cell-cell signaling by wnt | 48/1272 | 446/18723 | 1.07e-03 | 1.07e-02 | 48 |
GO:006007019 | Thyroid | HT | canonical Wnt signaling pathway | 34/1272 | 303/18723 | 2.76e-03 | 2.27e-02 | 34 |
GO:006082820 | Thyroid | HT | regulation of canonical Wnt signaling pathway | 29/1272 | 253/18723 | 4.01e-03 | 2.96e-02 | 29 |
GO:003011120 | Thyroid | HT | regulation of Wnt signaling pathway | 35/1272 | 328/18723 | 5.41e-03 | 3.58e-02 | 35 |
GO:20000458 | Thyroid | HT | regulation of G1/S transition of mitotic cell cycle | 18/1272 | 142/18723 | 7.71e-03 | 4.54e-02 | 18 |
GO:000734618 | Thyroid | HT | regulation of mitotic cell cycle | 45/1272 | 457/18723 | 7.86e-03 | 4.61e-02 | 45 |
GO:001657010 | Thyroid | PTC | histone modification | 235/5968 | 463/18723 | 1.17e-17 | 1.15e-15 | 235 |
GO:00064737 | Thyroid | PTC | protein acetylation | 116/5968 | 201/18723 | 3.05e-14 | 1.92e-12 | 116 |
GO:0016055110 | Thyroid | PTC | Wnt signaling pathway | 217/5968 | 444/18723 | 3.71e-14 | 2.30e-12 | 217 |
GO:00435437 | Thyroid | PTC | protein acylation | 134/5968 | 243/18723 | 4.22e-14 | 2.58e-12 | 134 |
GO:0198738110 | Thyroid | PTC | cell-cell signaling by wnt | 217/5968 | 446/18723 | 6.68e-14 | 3.73e-12 | 217 |
GO:00182059 | Thyroid | PTC | peptidyl-lysine modification | 188/5968 | 376/18723 | 1.34e-13 | 7.09e-12 | 188 |
GO:00183947 | Thyroid | PTC | peptidyl-lysine acetylation | 99/5968 | 169/18723 | 6.54e-13 | 3.08e-11 | 99 |
GO:0016049112 | Thyroid | PTC | cell growth | 225/5968 | 482/18723 | 4.75e-12 | 2.07e-10 | 225 |
GO:0030111110 | Thyroid | PTC | regulation of Wnt signaling pathway | 163/5968 | 328/18723 | 1.05e-11 | 4.29e-10 | 163 |
GO:00064757 | Thyroid | PTC | internal protein amino acid acetylation | 92/5968 | 160/18723 | 1.80e-11 | 7.06e-10 | 92 |
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 |
JADE1 | SNV | Missense_Mutation | novel | c.630N>T | p.Gln210His | p.Q210H | Q6IE81 | protein_coding | deleterious(0) | probably_damaging(0.947) | TCGA-EO-A22R-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
JADE1 | SNV | Missense_Mutation | novel | c.2288G>A | p.Gly763Glu | p.G763E | Q6IE81 | protein_coding | tolerated(0.38) | probably_damaging(0.998) | TCGA-EO-A22U-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
JADE1 | SNV | Missense_Mutation | novel | c.1941G>T | p.Gln647His | p.Q647H | Q6IE81 | protein_coding | tolerated(0.07) | benign(0.011) | TCGA-EO-A22X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unspecific | Carboplatin | Complete Response |
JADE1 | SNV | Missense_Mutation | novel | c.1348C>A | p.Leu450Met | p.L450M | Q6IE81 | protein_coding | deleterious(0.01) | possibly_damaging(0.873) | TCGA-EO-A3AU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
JADE1 | SNV | Missense_Mutation | novel | c.53N>A | p.Ser18Asn | p.S18N | Q6IE81 | protein_coding | deleterious(0.03) | benign(0.227) | TCGA-FI-A2D5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatinum | PD |
JADE1 | SNV | Missense_Mutation | novel | c.2508N>T | p.Arg836Ser | p.R836S | Q6IE81 | protein_coding | deleterious(0) | probably_damaging(0.95) | TCGA-FI-A2D5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatinum | PD |
JADE1 | insertion | Frame_Shift_Ins | novel | c.1418_1419insGAATAGACCATTAT | p.Glu474AsnfsTer5 | p.E474Nfs*5 | Q6IE81 | protein_coding | | | TCGA-A5-A0R7-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
JADE1 | insertion | In_Frame_Ins | novel | c.1937_1938insAAT | p.Gln646_Gln647insIle | p.Q646_Q647insI | Q6IE81 | protein_coding | | | TCGA-A5-A0R8-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
JADE1 | insertion | In_Frame_Ins | novel | c.1418_1419insGAATAGACCATT | p.Glu473_Glu474insAsnArgProLeu | p.E473_E474insNRPL | Q6IE81 | protein_coding | | | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |
JADE1 | insertion | Frame_Shift_Ins | novel | c.1418_1419insGAATAGACCATTAT | p.Glu474AsnfsTer5 | p.E474Nfs*5 | Q6IE81 | protein_coding | | | TCGA-AX-A05T-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |