GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0072594110 | Esophagus | ESCC | establishment of protein localization to organelle | 311/8552 | 422/18723 | 3.02e-32 | 2.13e-29 | 311 |
GO:0006913110 | Esophagus | ESCC | nucleocytoplasmic transport | 230/8552 | 301/18723 | 6.04e-28 | 2.02e-25 | 230 |
GO:0051169110 | Esophagus | ESCC | nuclear transport | 230/8552 | 301/18723 | 6.04e-28 | 2.02e-25 | 230 |
GO:003238618 | Esophagus | ESCC | regulation of intracellular transport | 243/8552 | 337/18723 | 3.20e-23 | 7.25e-21 | 243 |
GO:003450418 | Esophagus | ESCC | protein localization to nucleus | 211/8552 | 290/18723 | 4.06e-21 | 6.60e-19 | 211 |
GO:1903829111 | Esophagus | ESCC | positive regulation of cellular protein localization | 199/8552 | 276/18723 | 2.99e-19 | 3.45e-17 | 199 |
GO:0033157110 | Esophagus | ESCC | regulation of intracellular protein transport | 169/8552 | 229/18723 | 3.31e-18 | 3.23e-16 | 169 |
GO:0032388110 | Esophagus | ESCC | positive regulation of intracellular transport | 152/8552 | 202/18723 | 7.89e-18 | 7.36e-16 | 152 |
GO:000170119 | Esophagus | ESCC | in utero embryonic development | 243/8552 | 367/18723 | 1.00e-15 | 6.86e-14 | 243 |
GO:1904951111 | Esophagus | ESCC | positive regulation of establishment of protein localization | 216/8552 | 319/18723 | 1.01e-15 | 6.86e-14 | 216 |
GO:0046822110 | Esophagus | ESCC | regulation of nucleocytoplasmic transport | 88/8552 | 106/18723 | 1.88e-15 | 1.19e-13 | 88 |
GO:009031617 | Esophagus | ESCC | positive regulation of intracellular protein transport | 122/8552 | 160/18723 | 2.45e-15 | 1.49e-13 | 122 |
GO:001703818 | Esophagus | ESCC | protein import | 149/8552 | 206/18723 | 5.90e-15 | 3.31e-13 | 149 |
GO:0051222111 | Esophagus | ESCC | positive regulation of protein transport | 204/8552 | 303/18723 | 1.56e-14 | 8.38e-13 | 204 |
GO:190018018 | Esophagus | ESCC | regulation of protein localization to nucleus | 102/8552 | 136/18723 | 2.84e-12 | 1.13e-10 | 102 |
GO:0048732111 | Esophagus | ESCC | gland development | 269/8552 | 436/18723 | 7.81e-12 | 2.95e-10 | 269 |
GO:190018217 | Esophagus | ESCC | positive regulation of protein localization to nucleus | 70/8552 | 87/18723 | 2.63e-11 | 8.99e-10 | 70 |
GO:005160418 | Esophagus | ESCC | protein maturation | 189/8552 | 294/18723 | 7.64e-11 | 2.39e-09 | 189 |
GO:001605517 | Esophagus | ESCC | Wnt signaling pathway | 268/8552 | 444/18723 | 2.32e-10 | 6.58e-09 | 268 |
GO:019873817 | Esophagus | ESCC | cell-cell signaling by wnt | 269/8552 | 446/18723 | 2.41e-10 | 6.79e-09 | 269 |
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 |
GLI3 | insertion | In_Frame_Ins | novel | c.4439_4440insGTGTGTGCACAAAGAGTACATGGATTTTCCAGCATA | p.Leu1480_Ser1481insCysValHisLysGluTyrMetAspPheProAlaTyr | p.L1480_S1481insCVHKEYMDFPAY | P10071 | protein_coding | | | TCGA-AN-A0FX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
GLI3 | deletion | Frame_Shift_Del | | c.3098delN | p.Pro1033ArgfsTer46 | p.P1033Rfs*46 | P10071 | protein_coding | | | TCGA-AO-A128-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
GLI3 | insertion | Nonsense_Mutation | novel | c.3753_3754insTAACTGAGATGTGTTTCAATTATAT | p.Pro1252Ter | p.P1252* | P10071 | protein_coding | | | TCGA-BH-A0EE-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | docetaxel | SD |
GLI3 | insertion | Frame_Shift_Ins | novel | c.4440_4441insGCAATAGGCTTTAGGAAAAAAAGACTGCAACCAACGGAAA | p.Ser1481AlafsTer18 | p.S1481Afs*18 | P10071 | protein_coding | | | TCGA-BH-A0HU-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | docetaxel | SD |
GLI3 | deletion | Frame_Shift_Del | | c.1539_1554delNNNNNNNNNNNNNNNN | p.Phe513LeufsTer17 | p.F513Lfs*17 | P10071 | protein_coding | | | TCGA-D8-A27E-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen+anastrazolum | SD |
GLI3 | insertion | Frame_Shift_Ins | novel | c.3706_3707insT | p.Gly1236ValfsTer11 | p.G1236Vfs*11 | P10071 | protein_coding | | | TCGA-E2-A15E-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
GLI3 | insertion | Nonsense_Mutation | novel | c.3705_3706insTAAAGCTCTAGGCTTTTCTCAGATGACAG | p.Gly1236Ter | p.G1236* | P10071 | protein_coding | | | TCGA-E2-A15E-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
GLI3 | SNV | Missense_Mutation | | c.3687N>C | p.Leu1229Phe | p.L1229F | P10071 | protein_coding | tolerated_low_confidence(0.09) | benign(0.003) | TCGA-C5-A1BF-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | PD |
GLI3 | SNV | Missense_Mutation | | c.2647G>A | p.Glu883Lys | p.E883K | P10071 | protein_coding | tolerated(0.64) | benign(0.251) | TCGA-DG-A2KL-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | SD |
GLI3 | SNV | Missense_Mutation | rs140479817 | c.2200G>A | p.Asp734Asn | p.D734N | P10071 | protein_coding | tolerated(0.24) | benign(0.001) | TCGA-EA-A3HS-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |