GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0034340 | Colorectum | AD | response to type I interferon | 22/3918 | 58/18723 | 2.23e-03 | 1.75e-02 | 22 |
GO:0060337 | Colorectum | AD | type I interferon signaling pathway | 19/3918 | 50/18723 | 4.23e-03 | 2.91e-02 | 19 |
GO:0007346 | Colorectum | AD | regulation of mitotic cell cycle | 119/3918 | 457/18723 | 4.60e-03 | 3.14e-02 | 119 |
GO:0071357 | Colorectum | AD | cellular response to type I interferon | 19/3918 | 52/18723 | 6.92e-03 | 4.26e-02 | 19 |
GO:00343401 | Colorectum | SER | response to type I interferon | 17/2897 | 58/18723 | 5.50e-03 | 4.07e-02 | 17 |
GO:00343402 | Colorectum | MSS | response to type I interferon | 20/3467 | 58/18723 | 2.82e-03 | 2.20e-02 | 20 |
GO:00073461 | Colorectum | MSS | regulation of mitotic cell cycle | 108/3467 | 457/18723 | 3.30e-03 | 2.50e-02 | 108 |
GO:000734615 | Esophagus | ESCC | regulation of mitotic cell cycle | 293/8552 | 457/18723 | 8.00e-16 | 5.64e-14 | 293 |
GO:000170119 | Esophagus | ESCC | in utero embryonic development | 243/8552 | 367/18723 | 1.00e-15 | 6.86e-14 | 243 |
GO:003434013 | Esophagus | ESCC | response to type I interferon | 48/8552 | 58/18723 | 6.18e-09 | 1.26e-07 | 48 |
GO:00603375 | Esophagus | ESCC | type I interferon signaling pathway | 41/8552 | 50/18723 | 1.35e-07 | 2.17e-06 | 41 |
GO:00713575 | Esophagus | ESCC | cellular response to type I interferon | 42/8552 | 52/18723 | 2.15e-07 | 3.30e-06 | 42 |
GO:000182412 | Esophagus | ESCC | blastocyst development | 73/8552 | 106/18723 | 1.13e-06 | 1.40e-05 | 73 |
GO:00028318 | Esophagus | ESCC | regulation of response to biotic stimulus | 191/8552 | 327/18723 | 2.12e-06 | 2.45e-05 | 191 |
GO:00607595 | Esophagus | ESCC | regulation of response to cytokine stimulus | 103/8552 | 162/18723 | 3.14e-06 | 3.53e-05 | 103 |
GO:000283212 | Esophagus | ESCC | negative regulation of response to biotic stimulus | 72/8552 | 108/18723 | 8.36e-06 | 8.11e-05 | 72 |
GO:00019595 | Esophagus | ESCC | regulation of cytokine-mediated signaling pathway | 95/8552 | 150/18723 | 9.48e-06 | 9.04e-05 | 95 |
GO:00603385 | Esophagus | ESCC | regulation of type I interferon-mediated signaling pathway | 29/8552 | 36/18723 | 1.91e-05 | 1.67e-04 | 29 |
GO:00991114 | Esophagus | ESCC | microtubule-based transport | 115/8552 | 190/18723 | 2.54e-05 | 2.15e-04 | 115 |
GO:00450885 | Esophagus | ESCC | regulation of innate immune response | 125/8552 | 218/18723 | 3.34e-04 | 1.96e-03 | 125 |
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 |
TTLL1 | SNV | Missense_Mutation | rs202042134 | c.986C>T | p.Ala329Val | p.A329V | O95922 | protein_coding | deleterious(0) | probably_damaging(0.992) | TCGA-AP-A059-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
TTLL1 | SNV | Missense_Mutation | rs767006390 | c.817C>T | p.Arg273Cys | p.R273C | O95922 | protein_coding | deleterious(0.02) | probably_damaging(0.987) | TCGA-AP-A059-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
TTLL1 | SNV | Missense_Mutation | rs6003030 | c.503C>T | p.Ser168Leu | p.S168L | O95922 | protein_coding | tolerated(0.16) | benign(0.041) | TCGA-AX-A05Z-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | SD |
TTLL1 | SNV | Missense_Mutation | novel | c.1141N>A | p.Leu381Met | p.L381M | O95922 | protein_coding | deleterious(0) | probably_damaging(0.922) | TCGA-AX-A2HC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | PD |
TTLL1 | SNV | Missense_Mutation | rs746847301 | c.847N>A | p.Asp283Asn | p.D283N | O95922 | protein_coding | tolerated(0.23) | benign(0.015) | TCGA-AX-A2HC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | PD |
TTLL1 | SNV | Missense_Mutation | novel | c.218N>A | p.Arg73Gln | p.R73Q | O95922 | protein_coding | deleterious(0) | probably_damaging(0.995) | TCGA-AX-A2HC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | PD |
TTLL1 | SNV | Missense_Mutation | rs770156420 | c.614C>T | p.Thr205Met | p.T205M | O95922 | protein_coding | deleterious(0) | probably_damaging(0.93) | TCGA-AX-A2HD-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
TTLL1 | SNV | Missense_Mutation | rs867699587 | c.949N>A | p.Asp317Asn | p.D317N | O95922 | protein_coding | deleterious(0.02) | probably_damaging(1) | TCGA-B5-A1MR-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
TTLL1 | SNV | Missense_Mutation | novel | c.1037N>G | p.Asn346Ser | p.N346S | O95922 | protein_coding | tolerated(0.5) | benign(0.015) | TCGA-BK-A13B-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | PD |
TTLL1 | SNV | Missense_Mutation | | c.956A>C | p.Lys319Thr | p.K319T | O95922 | protein_coding | tolerated(0.33) | benign(0.014) | TCGA-D1-A17Q-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |