GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00467776 | Lung | IAC | protein autophosphorylation | 51/2061 | 227/18723 | 4.85e-07 | 3.10e-05 | 51 |
GO:00106398 | Lung | IAC | negative regulation of organelle organization | 68/2061 | 348/18723 | 1.69e-06 | 8.24e-05 | 68 |
GO:00313455 | Lung | IAC | negative regulation of cell projection organization | 41/2061 | 186/18723 | 1.01e-05 | 3.23e-04 | 41 |
GO:01200327 | Lung | IAC | regulation of plasma membrane bounded cell projection assembly | 39/2061 | 186/18723 | 5.41e-05 | 1.21e-03 | 39 |
GO:00604916 | Lung | IAC | regulation of cell projection assembly | 39/2061 | 188/18723 | 6.92e-05 | 1.47e-03 | 39 |
GO:00307056 | Lung | IAC | cytoskeleton-dependent intracellular transport | 40/2061 | 195/18723 | 7.30e-05 | 1.54e-03 | 40 |
GO:1902855 | Lung | IAC | regulation of non-motile cilium assembly | 6/2061 | 10/18723 | 2.50e-04 | 4.23e-03 | 6 |
GO:19021152 | Lung | IAC | regulation of organelle assembly | 37/2061 | 186/18723 | 2.55e-04 | 4.26e-03 | 37 |
GO:00315032 | Lung | IAC | protein-containing complex localization | 42/2061 | 220/18723 | 2.60e-04 | 4.32e-03 | 42 |
GO:1905515 | Lung | IAC | non-motile cilium assembly | 16/2061 | 61/18723 | 7.09e-04 | 9.50e-03 | 16 |
GO:00018947 | Lung | IAC | tissue homeostasis | 46/2061 | 268/18723 | 1.50e-03 | 1.60e-02 | 46 |
GO:0099111 | Lung | IAC | microtubule-based transport | 35/2061 | 190/18723 | 1.55e-03 | 1.64e-02 | 35 |
GO:0060271 | Lung | IAC | cilium assembly | 55/2061 | 337/18723 | 1.84e-03 | 1.88e-02 | 55 |
GO:0120033 | Lung | IAC | negative regulation of plasma membrane bounded cell projection assembly | 10/2061 | 33/18723 | 2.18e-03 | 2.15e-02 | 10 |
GO:00602497 | Lung | IAC | anatomical structure homeostasis | 51/2061 | 314/18723 | 2.91e-03 | 2.61e-02 | 51 |
GO:0044782 | Lung | IAC | cilium organization | 58/2061 | 368/18723 | 3.15e-03 | 2.75e-02 | 58 |
GO:00109704 | Lung | IAC | transport along microtubule | 28/2061 | 155/18723 | 5.72e-03 | 4.18e-02 | 28 |
GO:00602711 | Lung | MIAC | cilium assembly | 37/967 | 337/18723 | 1.29e-05 | 9.85e-04 | 37 |
GO:00447821 | Lung | MIAC | cilium organization | 38/967 | 368/18723 | 3.93e-05 | 2.08e-03 | 38 |
GO:004677721 | Lung | MIAC | protein autophosphorylation | 27/967 | 227/18723 | 4.74e-05 | 2.46e-03 | 27 |
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 |
MAK | SNV | Missense_Mutation | novel | c.1608N>G | p.Ile536Met | p.I536M | P20794 | protein_coding | tolerated(0.09) | probably_damaging(0.957) | TCGA-DF-A2KN-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | Unknown | I/II | Unknown | Unknown | SD |
MAK | SNV | Missense_Mutation | novel | c.117N>A | p.Phe39Leu | p.F39L | P20794 | protein_coding | deleterious(0) | possibly_damaging(0.695) | TCGA-E6-A1LX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
MAK | SNV | Missense_Mutation | novel | c.158N>A | p.Ser53Tyr | p.S53Y | P20794 | protein_coding | deleterious(0) | probably_damaging(0.99) | TCGA-EO-A22R-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
MAK | SNV | Missense_Mutation | | c.1678N>T | p.Leu560Phe | p.L560F | P20794 | protein_coding | tolerated(0.86) | benign(0.007) | TCGA-EO-A22U-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
MAK | SNV | Missense_Mutation | rs746596336 | c.710N>A | p.Arg237His | p.R237H | P20794 | protein_coding | deleterious(0.02) | probably_damaging(0.975) | TCGA-EO-A22U-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
MAK | SNV | Missense_Mutation | novel | c.810N>T | p.Lys270Asn | p.K270N | P20794 | protein_coding | deleterious(0.01) | benign(0.015) | TCGA-EO-A22X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unspecific | Carboplatin | Complete Response |
MAK | SNV | Missense_Mutation | novel | c.1198N>G | p.Ile400Val | p.I400V | P20794 | protein_coding | tolerated(1) | benign(0) | TCGA-EO-A3AV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | CR |
MAK | SNV | Missense_Mutation | novel | c.421N>T | p.Ile141Phe | p.I141F | P20794 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-EO-A3B0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
MAK | SNV | Missense_Mutation | novel | c.1409N>G | p.Leu470Trp | p.L470W | P20794 | protein_coding | tolerated(0.19) | possibly_damaging(0.753) | TCGA-EY-A1G8-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
MAK | SNV | Missense_Mutation | rs764870230 | c.1315N>T | p.Arg439Trp | p.R439W | P20794 | protein_coding | deleterious(0.02) | possibly_damaging(0.764) | TCGA-EY-A1G8-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |