GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00065758 | Skin | cSCC | cellular modified amino acid metabolic process | 73/4864 | 188/18723 | 7.11e-05 | 6.85e-04 | 73 |
GO:000633812 | Skin | cSCC | chromatin remodeling | 94/4864 | 255/18723 | 7.58e-05 | 7.26e-04 | 94 |
GO:00066125 | Skin | cSCC | protein targeting to membrane | 54/4864 | 131/18723 | 9.79e-05 | 9.11e-04 | 54 |
GO:000616418 | Skin | cSCC | purine nucleotide biosynthetic process | 73/4864 | 191/18723 | 1.28e-04 | 1.17e-03 | 73 |
GO:00091679 | Skin | cSCC | purine ribonucleoside monophosphate metabolic process | 22/4864 | 41/18723 | 1.46e-04 | 1.31e-03 | 22 |
GO:004677715 | Skin | cSCC | protein autophosphorylation | 84/4864 | 227/18723 | 1.53e-04 | 1.35e-03 | 84 |
GO:190121426 | Skin | cSCC | regulation of neuron death | 112/4864 | 319/18723 | 1.71e-04 | 1.48e-03 | 112 |
GO:005134627 | Skin | cSCC | negative regulation of hydrolase activity | 130/4864 | 379/18723 | 1.74e-04 | 1.49e-03 | 130 |
GO:0032535111 | Skin | cSCC | regulation of cellular component size | 131/4864 | 383/18723 | 1.89e-04 | 1.59e-03 | 131 |
GO:00091616 | Skin | cSCC | ribonucleoside monophosphate metabolic process | 28/4864 | 58/18723 | 2.14e-04 | 1.77e-03 | 28 |
GO:00091244 | Skin | cSCC | nucleoside monophosphate biosynthetic process | 22/4864 | 42/18723 | 2.31e-04 | 1.90e-03 | 22 |
GO:00610255 | Skin | cSCC | membrane fusion | 63/4864 | 163/18723 | 2.49e-04 | 2.03e-03 | 63 |
GO:00718241 | Skin | cSCC | protein-DNA complex subunit organization | 87/4864 | 241/18723 | 3.09e-04 | 2.47e-03 | 87 |
GO:19049506 | Skin | cSCC | negative regulation of establishment of protein localization | 52/4864 | 131/18723 | 3.95e-04 | 3.09e-03 | 52 |
GO:00060819 | Skin | cSCC | cellular aldehyde metabolic process | 28/4864 | 60/18723 | 4.35e-04 | 3.36e-03 | 28 |
GO:0071453111 | Skin | cSCC | cellular response to oxygen levels | 66/4864 | 177/18723 | 5.79e-04 | 4.21e-03 | 66 |
GO:00512245 | Skin | cSCC | negative regulation of protein transport | 50/4864 | 127/18723 | 6.32e-04 | 4.55e-03 | 50 |
GO:00069064 | Skin | cSCC | vesicle fusion | 43/4864 | 106/18723 | 7.14e-04 | 5.03e-03 | 43 |
GO:190547724 | Skin | cSCC | positive regulation of protein localization to membrane | 43/4864 | 106/18723 | 7.14e-04 | 5.03e-03 | 43 |
GO:19016575 | Skin | cSCC | glycosyl compound metabolic process | 37/4864 | 88/18723 | 7.39e-04 | 5.15e-03 | 37 |
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 |