GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:000675324 | Skin | cSCC | nucleoside phosphate metabolic process | 176/4864 | 497/18723 | 1.55e-06 | 2.62e-05 | 176 |
GO:00004694 | Skin | cSCC | cleavage involved in rRNA processing | 19/4864 | 27/18723 | 1.72e-06 | 2.88e-05 | 19 |
GO:0046390111 | Skin | cSCC | ribose phosphate biosynthetic process | 79/4864 | 190/18723 | 1.86e-06 | 3.10e-05 | 79 |
GO:000911724 | Skin | cSCC | nucleotide metabolic process | 173/4864 | 489/18723 | 2.03e-06 | 3.35e-05 | 173 |
GO:00906708 | Skin | cSCC | RNA localization to Cajal body | 15/4864 | 19/18723 | 2.08e-06 | 3.40e-05 | 15 |
GO:00906718 | Skin | cSCC | telomerase RNA localization to Cajal body | 15/4864 | 19/18723 | 2.08e-06 | 3.40e-05 | 15 |
GO:00906728 | Skin | cSCC | telomerase RNA localization | 15/4864 | 19/18723 | 2.08e-06 | 3.40e-05 | 15 |
GO:00906858 | Skin | cSCC | RNA localization to nucleus | 15/4864 | 19/18723 | 2.08e-06 | 3.40e-05 | 15 |
GO:0072521112 | Skin | cSCC | purine-containing compound metabolic process | 150/4864 | 416/18723 | 2.88e-06 | 4.54e-05 | 150 |
GO:007099729 | Skin | cSCC | neuron death | 133/4864 | 361/18723 | 2.91e-06 | 4.58e-05 | 133 |
GO:003220015 | Skin | cSCC | telomere organization | 68/4864 | 159/18723 | 2.94e-06 | 4.62e-05 | 68 |
GO:000166626 | Skin | cSCC | response to hypoxia | 116/4864 | 307/18723 | 3.09e-06 | 4.81e-05 | 116 |
GO:001820515 | Skin | cSCC | peptidyl-lysine modification | 137/4864 | 376/18723 | 4.09e-06 | 6.09e-05 | 137 |
GO:000632519 | Skin | cSCC | chromatin organization | 147/4864 | 409/18723 | 4.41e-06 | 6.52e-05 | 147 |
GO:007189718 | Skin | cSCC | DNA biosynthetic process | 74/4864 | 180/18723 | 6.33e-06 | 8.92e-05 | 74 |
GO:005164816 | Skin | cSCC | vesicle localization | 73/4864 | 177/18723 | 6.36e-06 | 8.92e-05 | 73 |
GO:190458916 | Skin | cSCC | regulation of protein import | 33/4864 | 63/18723 | 6.88e-06 | 9.59e-05 | 33 |
GO:003629326 | Skin | cSCC | response to decreased oxygen levels | 119/4864 | 322/18723 | 7.98e-06 | 1.09e-04 | 119 |
GO:190547524 | Skin | cSCC | regulation of protein localization to membrane | 72/4864 | 175/18723 | 8.12e-06 | 1.09e-04 | 72 |
GO:003297029 | Skin | cSCC | regulation of actin filament-based process | 142/4864 | 397/18723 | 8.50e-06 | 1.13e-04 | 142 |
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 |