GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0030099111 | Esophagus | ESCC | myeloid cell differentiation | 232/8552 | 381/18723 | 1.22e-09 | 2.90e-08 | 232 |
GO:004578527 | Esophagus | ESCC | positive regulation of cell adhesion | 255/8552 | 437/18723 | 5.07e-08 | 9.11e-07 | 255 |
GO:000257317 | Esophagus | ESCC | myeloid leukocyte differentiation | 128/8552 | 208/18723 | 2.75e-06 | 3.15e-05 | 128 |
GO:00454449 | Esophagus | ESCC | fat cell differentiation | 135/8552 | 229/18723 | 3.38e-05 | 2.78e-04 | 135 |
GO:00456007 | Esophagus | ESCC | positive regulation of fat cell differentiation | 46/8552 | 66/18723 | 6.72e-05 | 5.11e-04 | 46 |
GO:1903706110 | Esophagus | ESCC | regulation of hemopoiesis | 201/8552 | 367/18723 | 2.60e-04 | 1.58e-03 | 201 |
GO:0045637111 | Esophagus | ESCC | regulation of myeloid cell differentiation | 118/8552 | 210/18723 | 1.35e-03 | 6.43e-03 | 118 |
GO:190210510 | Esophagus | ESCC | regulation of leukocyte differentiation | 152/8552 | 279/18723 | 1.82e-03 | 8.35e-03 | 152 |
GO:00455984 | Esophagus | ESCC | regulation of fat cell differentiation | 79/8552 | 139/18723 | 5.23e-03 | 1.97e-02 | 79 |
GO:000276115 | Esophagus | ESCC | regulation of myeloid leukocyte differentiation | 69/8552 | 120/18723 | 6.00e-03 | 2.21e-02 | 69 |
GO:01061066 | Esophagus | ESCC | cold-induced thermogenesis | 80/8552 | 144/18723 | 1.07e-02 | 3.65e-02 | 80 |
GO:01201616 | Esophagus | ESCC | regulation of cold-induced thermogenesis | 80/8552 | 144/18723 | 1.07e-02 | 3.65e-02 | 80 |
GO:00303165 | Esophagus | ESCC | osteoclast differentiation | 54/8552 | 94/18723 | 1.43e-02 | 4.65e-02 | 54 |
GO:003009922 | Liver | HCC | myeloid cell differentiation | 200/7958 | 381/18723 | 4.64e-05 | 4.49e-04 | 200 |
GO:00454441 | Liver | HCC | fat cell differentiation | 120/7958 | 229/18723 | 1.52e-03 | 8.05e-03 | 120 |
GO:004578512 | Liver | HCC | positive regulation of cell adhesion | 215/7958 | 437/18723 | 2.53e-03 | 1.22e-02 | 215 |
GO:010610611 | Liver | HCC | cold-induced thermogenesis | 76/7958 | 144/18723 | 8.07e-03 | 3.18e-02 | 76 |
GO:012016111 | Liver | HCC | regulation of cold-induced thermogenesis | 76/7958 | 144/18723 | 8.07e-03 | 3.18e-02 | 76 |
GO:199084511 | Liver | HCC | adaptive thermogenesis | 81/7958 | 157/18723 | 1.32e-02 | 4.72e-02 | 81 |
GO:003009920 | Oral cavity | OSCC | myeloid cell differentiation | 213/7305 | 381/18723 | 1.24e-11 | 4.42e-10 | 213 |
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 |
TFE3 | SNV | Missense_Mutation | | c.1067N>A | p.Arg356His | p.R356H | P19532 | protein_coding | deleterious(0) | benign(0.039) | TCGA-A2-A0T1-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Targeted Molecular therapy | herceptin | SD |
TFE3 | SNV | Missense_Mutation | | c.613A>G | p.Thr205Ala | p.T205A | P19532 | protein_coding | deleterious(0.05) | benign(0.097) | TCGA-AO-A128-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
TFE3 | SNV | Missense_Mutation | | c.1523N>T | p.Asp508Val | p.D508V | P19532 | protein_coding | deleterious(0.04) | possibly_damaging(0.679) | TCGA-AR-A1AR-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unspecific | Docetaxel | PD |
TFE3 | SNV | Missense_Mutation | novel | c.1249N>C | p.Glu417Gln | p.E417Q | P19532 | protein_coding | deleterious(0) | benign(0.438) | TCGA-C8-A8HP-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | 5-fluorouracil | CR |
TFE3 | SNV | Missense_Mutation | | c.1234N>T | p.Arg412Trp | p.R412W | P19532 | protein_coding | deleterious(0) | possibly_damaging(0.828) | TCGA-E2-A576-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | taxotere | SD |
TFE3 | SNV | Missense_Mutation | novel | c.1145N>A | p.Arg382His | p.R382H | P19532 | protein_coding | deleterious(0) | benign(0.071) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
TFE3 | SNV | Missense_Mutation | rs199894897 | c.853N>A | p.Gly285Arg | p.G285R | P19532 | protein_coding | tolerated(0.19) | possibly_damaging(0.461) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
TFE3 | SNV | Missense_Mutation | novel | c.865N>A | p.Gly289Arg | p.G289R | P19532 | protein_coding | deleterious(0.04) | possibly_damaging(0.539) | TCGA-EA-A3HU-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
TFE3 | SNV | Missense_Mutation | rs199894897 | c.853N>A | p.Gly285Arg | p.G285R | P19532 | protein_coding | tolerated(0.19) | possibly_damaging(0.461) | TCGA-FU-A57G-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
TFE3 | SNV | Missense_Mutation | | c.1026N>C | p.Leu342Phe | p.L342F | P19532 | protein_coding | tolerated(0.13) | possibly_damaging(0.477) | TCGA-IR-A3LA-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |