GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:007145617 | Skin | cSCC | cellular response to hypoxia | 55/4864 | 151/18723 | 2.88e-03 | 1.61e-02 | 55 |
GO:0033673110 | Skin | cSCC | negative regulation of kinase activity | 81/4864 | 237/18723 | 2.95e-03 | 1.64e-02 | 81 |
GO:0036294111 | Skin | cSCC | cellular response to decreased oxygen levels | 58/4864 | 161/18723 | 3.00e-03 | 1.66e-02 | 58 |
GO:00323876 | Skin | cSCC | negative regulation of intracellular transport | 25/4864 | 58/18723 | 3.40e-03 | 1.84e-02 | 25 |
GO:00711031 | Skin | cSCC | DNA conformation change | 96/4864 | 290/18723 | 3.87e-03 | 2.07e-02 | 96 |
GO:00070404 | Skin | cSCC | lysosome organization | 30/4864 | 74/18723 | 4.32e-03 | 2.27e-02 | 30 |
GO:00801714 | Skin | cSCC | lytic vacuole organization | 30/4864 | 74/18723 | 4.32e-03 | 2.27e-02 | 30 |
GO:00091134 | Skin | cSCC | purine nucleobase biosynthetic process | 7/4864 | 10/18723 | 4.43e-03 | 2.29e-02 | 7 |
GO:00311183 | Skin | cSCC | rRNA pseudouridine synthesis | 7/4864 | 10/18723 | 4.43e-03 | 2.29e-02 | 7 |
GO:00091564 | Skin | cSCC | ribonucleoside monophosphate biosynthetic process | 16/4864 | 33/18723 | 4.50e-03 | 2.30e-02 | 16 |
GO:00324382 | Skin | cSCC | melanosome organization | 14/4864 | 28/18723 | 5.47e-03 | 2.73e-02 | 14 |
GO:0009746111 | Skin | cSCC | response to hexose | 74/4864 | 219/18723 | 5.94e-03 | 2.93e-02 | 74 |
GO:00091125 | Skin | cSCC | nucleobase metabolic process | 16/4864 | 34/18723 | 6.47e-03 | 3.15e-02 | 16 |
GO:00086526 | Skin | cSCC | cellular amino acid biosynthetic process | 30/4864 | 76/18723 | 6.79e-03 | 3.29e-02 | 30 |
GO:00461124 | Skin | cSCC | nucleobase biosynthetic process | 10/4864 | 18/18723 | 7.25e-03 | 3.44e-02 | 10 |
GO:00094513 | Skin | cSCC | RNA modification | 58/4864 | 167/18723 | 7.33e-03 | 3.47e-02 | 58 |
GO:00487532 | Skin | cSCC | pigment granule organization | 14/4864 | 29/18723 | 8.08e-03 | 3.74e-02 | 14 |
GO:0009749110 | Skin | cSCC | response to glucose | 71/4864 | 212/18723 | 8.71e-03 | 4.01e-02 | 71 |
GO:00067672 | Skin | cSCC | water-soluble vitamin metabolic process | 24/4864 | 59/18723 | 9.59e-03 | 4.30e-02 | 24 |
GO:00330594 | Skin | cSCC | cellular pigmentation | 22/4864 | 53/18723 | 9.80e-03 | 4.33e-02 | 22 |
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 |