GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00316474 | Colorectum | FAP | regulation of protein stability | 70/2622 | 298/18723 | 6.60e-06 | 2.04e-04 | 70 |
GO:00715601 | Colorectum | FAP | cellular response to transforming growth factor beta stimulus | 61/2622 | 250/18723 | 7.22e-06 | 2.19e-04 | 61 |
GO:00709974 | Colorectum | FAP | neuron death | 81/2622 | 361/18723 | 8.35e-06 | 2.46e-04 | 81 |
GO:00468224 | Colorectum | FAP | regulation of nucleocytoplasmic transport | 32/2622 | 106/18723 | 1.30e-05 | 3.53e-04 | 32 |
GO:00903164 | Colorectum | FAP | positive regulation of intracellular protein transport | 43/2622 | 160/18723 | 1.30e-05 | 3.53e-04 | 43 |
GO:00071791 | Colorectum | FAP | transforming growth factor beta receptor signaling pathway | 50/2622 | 198/18723 | 1.75e-05 | 4.44e-04 | 50 |
GO:00513484 | Colorectum | FAP | negative regulation of transferase activity | 63/2622 | 268/18723 | 1.82e-05 | 4.57e-04 | 63 |
GO:20006494 | Colorectum | FAP | regulation of sodium ion transmembrane transporter activity | 21/2622 | 58/18723 | 1.95e-05 | 4.85e-04 | 21 |
GO:00704823 | Colorectum | FAP | response to oxygen levels | 77/2622 | 347/18723 | 2.08e-05 | 5.05e-04 | 77 |
GO:00353034 | Colorectum | FAP | regulation of dephosphorylation | 36/2622 | 128/18723 | 2.22e-05 | 5.28e-04 | 36 |
GO:00323864 | Colorectum | FAP | regulation of intracellular transport | 75/2622 | 337/18723 | 2.38e-05 | 5.60e-04 | 75 |
GO:00331574 | Colorectum | FAP | regulation of intracellular protein transport | 55/2622 | 229/18723 | 3.20e-05 | 7.20e-04 | 55 |
GO:00345044 | Colorectum | FAP | protein localization to nucleus | 66/2622 | 290/18723 | 3.47e-05 | 7.64e-04 | 66 |
GO:00347641 | Colorectum | FAP | positive regulation of transmembrane transport | 53/2622 | 219/18723 | 3.54e-05 | 7.75e-04 | 53 |
GO:19023074 | Colorectum | FAP | positive regulation of sodium ion transmembrane transport | 11/2622 | 21/18723 | 3.61e-05 | 7.86e-04 | 11 |
GO:00714533 | Colorectum | FAP | cellular response to oxygen levels | 45/2622 | 177/18723 | 3.77e-05 | 8.13e-04 | 45 |
GO:00019334 | Colorectum | FAP | negative regulation of protein phosphorylation | 75/2622 | 342/18723 | 4.02e-05 | 8.53e-04 | 75 |
GO:00459364 | Colorectum | FAP | negative regulation of phosphate metabolic process | 92/2622 | 441/18723 | 4.43e-05 | 9.26e-04 | 92 |
GO:00105634 | Colorectum | FAP | negative regulation of phosphorus metabolic process | 92/2622 | 442/18723 | 4.84e-05 | 9.91e-04 | 92 |
GO:00064693 | Colorectum | FAP | negative regulation of protein kinase activity | 51/2622 | 212/18723 | 5.82e-05 | 1.15e-03 | 51 |
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 |