GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:003223120 | Esophagus | ESCC | regulation of actin filament bundle assembly | 64/8552 | 105/18723 | 1.15e-03 | 5.70e-03 | 64 |
GO:00461123 | Esophagus | ESCC | nucleobase biosynthetic process | 15/8552 | 18/18723 | 1.20e-03 | 5.88e-03 | 15 |
GO:0001942 | Esophagus | ESCC | hair follicle development | 51/8552 | 81/18723 | 1.27e-03 | 6.14e-03 | 51 |
GO:00353056 | Esophagus | ESCC | negative regulation of dephosphorylation | 31/8552 | 45/18723 | 1.40e-03 | 6.62e-03 | 31 |
GO:0098773 | Esophagus | ESCC | skin epidermis development | 53/8552 | 85/18723 | 1.43e-03 | 6.77e-03 | 53 |
GO:00512623 | Esophagus | ESCC | protein tetramerization | 54/8552 | 87/18723 | 1.50e-03 | 7.06e-03 | 54 |
GO:00508528 | Esophagus | ESCC | T cell receptor signaling pathway | 73/8552 | 123/18723 | 1.54e-03 | 7.24e-03 | 73 |
GO:000223719 | Esophagus | ESCC | response to molecule of bacterial origin | 194/8552 | 363/18723 | 1.64e-03 | 7.61e-03 | 194 |
GO:005149225 | Esophagus | ESCC | regulation of stress fiber assembly | 56/8552 | 91/18723 | 1.66e-03 | 7.68e-03 | 56 |
GO:004825916 | Esophagus | ESCC | regulation of receptor-mediated endocytosis | 66/8552 | 110/18723 | 1.72e-03 | 7.96e-03 | 66 |
GO:000669211 | Esophagus | ESCC | prostanoid metabolic process | 33/8552 | 49/18723 | 1.80e-03 | 8.26e-03 | 33 |
GO:000669311 | Esophagus | ESCC | prostaglandin metabolic process | 33/8552 | 49/18723 | 1.80e-03 | 8.26e-03 | 33 |
GO:00091615 | Esophagus | ESCC | ribonucleoside monophosphate metabolic process | 38/8552 | 58/18723 | 1.81e-03 | 8.32e-03 | 38 |
GO:00091243 | Esophagus | ESCC | nucleoside monophosphate biosynthetic process | 29/8552 | 42/18723 | 1.87e-03 | 8.46e-03 | 29 |
GO:001092115 | Esophagus | ESCC | regulation of phosphatase activity | 52/8552 | 84/18723 | 1.98e-03 | 8.90e-03 | 52 |
GO:00903142 | Esophagus | ESCC | positive regulation of protein targeting to membrane | 22/8552 | 30/18723 | 1.98e-03 | 8.90e-03 | 22 |
GO:00091269 | Esophagus | ESCC | purine nucleoside monophosphate metabolic process | 30/8552 | 44/18723 | 2.14e-03 | 9.54e-03 | 30 |
GO:00461482 | Esophagus | ESCC | pigment biosynthetic process | 40/8552 | 62/18723 | 2.14e-03 | 9.54e-03 | 40 |
GO:0000154 | Esophagus | ESCC | rRNA modification | 26/8552 | 37/18723 | 2.16e-03 | 9.62e-03 | 26 |
GO:007124117 | Esophagus | ESCC | cellular response to inorganic substance | 125/8552 | 226/18723 | 2.17e-03 | 9.67e-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 |
HP | SNV | Missense_Mutation | novel | c.593T>A | p.Leu198Gln | p.L198Q | P00738 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AC-A3QQ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
HP | insertion | Nonsense_Mutation | novel | c.594_595insTTTTAA | p.Leu198_Thr199insPheTer | p.L198_T199insF* | P00738 | protein_coding | | | TCGA-AC-A3QQ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
HP | insertion | Frame_Shift_Ins | novel | c.593_594insTCTTGCCCAAATTCAG | p.Thr199LeufsTer9 | p.T199Lfs*9 | P00738 | protein_coding | | | TCGA-AR-A0TY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Paclitaxel | PD |
HP | insertion | Frame_Shift_Ins | novel | c.125_126insA | p.Tyr43LeufsTer11 | p.Y43Lfs*11 | P00738 | protein_coding | | | TCGA-BH-A0DZ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | docetaxel | SD |
HP | insertion | In_Frame_Ins | novel | c.127_128insCAGGCA | p.Tyr43delinsSerGlyAsn | p.Y43delinsSGN | P00738 | protein_coding | | | TCGA-BH-A0DZ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | docetaxel | SD |
HP | SNV | Missense_Mutation | novel | c.218A>C | p.Gln73Pro | p.Q73P | P00738 | protein_coding | tolerated(0.17) | benign(0.278) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
HP | SNV | Missense_Mutation | novel | c.1153N>C | p.Glu385Gln | p.E385Q | P00738 | protein_coding | tolerated(0.09) | possibly_damaging(0.624) | TCGA-DG-A2KM-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | SD |
HP | SNV | Missense_Mutation | | c.91G>A | p.Asp31Asn | p.D31N | P00738 | protein_coding | deleterious_low_confidence(0.01) | possibly_damaging(0.709) | TCGA-EK-A2PG-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Unknown | Unknown | SD |
HP | SNV | Missense_Mutation | | c.140C>T | p.Ser47Leu | p.S47L | P00738 | protein_coding | tolerated(0.23) | benign(0) | TCGA-MY-A5BD-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
HP | SNV | Missense_Mutation | | c.791N>A | p.Pro264His | p.P264H | P00738 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-CM-5861-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | PD |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
3240 | HP | DRUGGABLE GENOME, PROTEASE, ENZYME | | HEPATITIS B VACCINE | | 8256500 |
3240 | HP | DRUGGABLE GENOME, PROTEASE, ENZYME | | 17 BETA-ESTRADIOL | | 2078644 |
3240 | HP | DRUGGABLE GENOME, PROTEASE, ENZYME | | PYRIDOXINE | PYRIDOXINE | 6935482 |
3240 | HP | DRUGGABLE GENOME, PROTEASE, ENZYME | | AT1001 | | 22731712 |
3240 | HP | DRUGGABLE GENOME, PROTEASE, ENZYME | | STREPTOZOTOCIN | STREPTOZOCIN | 16713232 |
3240 | HP | DRUGGABLE GENOME, PROTEASE, ENZYME | | VACCINE | | 8228935 |