GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00713268 | Cervix | CC | cellular response to monosaccharide stimulus | 31/2311 | 154/18723 | 3.90e-03 | 2.46e-02 | 31 |
GO:00219541 | Cervix | CC | central nervous system neuron development | 19/2311 | 81/18723 | 3.96e-03 | 2.48e-02 | 19 |
GO:00611785 | Cervix | CC | regulation of insulin secretion involved in cellular response to glucose stimulus | 16/2311 | 64/18723 | 4.05e-03 | 2.52e-02 | 16 |
GO:00486603 | Cervix | CC | regulation of smooth muscle cell proliferation | 35/2311 | 180/18723 | 4.10e-03 | 2.54e-02 | 35 |
GO:00973059 | Cervix | CC | response to alcohol | 46/2311 | 253/18723 | 4.40e-03 | 2.69e-02 | 46 |
GO:000616310 | Cervix | CC | purine nucleotide metabolic process | 67/2311 | 396/18723 | 4.41e-03 | 2.69e-02 | 67 |
GO:0002443 | Cervix | CC | leukocyte mediated immunity | 73/2311 | 440/18723 | 5.01e-03 | 2.98e-02 | 73 |
GO:00019752 | Cervix | CC | response to amphetamine | 10/2311 | 33/18723 | 5.07e-03 | 3.00e-02 | 10 |
GO:00140754 | Cervix | CC | response to amine | 13/2311 | 49/18723 | 5.34e-03 | 3.10e-02 | 13 |
GO:00309003 | Cervix | CC | forebrain development | 64/2311 | 379/18723 | 5.53e-03 | 3.19e-02 | 64 |
GO:00320245 | Cervix | CC | positive regulation of insulin secretion | 18/2311 | 78/18723 | 5.94e-03 | 3.40e-02 | 18 |
GO:007252110 | Cervix | CC | purine-containing compound metabolic process | 69/2311 | 416/18723 | 6.27e-03 | 3.54e-02 | 69 |
GO:00357734 | Cervix | CC | insulin secretion involved in cellular response to glucose stimulus | 17/2311 | 73/18723 | 6.71e-03 | 3.70e-02 | 17 |
GO:19013618 | Cervix | CC | organic cyclic compound catabolic process | 80/2311 | 495/18723 | 6.77e-03 | 3.72e-02 | 80 |
GO:000911710 | Cervix | CC | nucleotide metabolic process | 79/2311 | 489/18723 | 7.16e-03 | 3.85e-02 | 79 |
GO:00486612 | Cervix | CC | positive regulation of smooth muscle cell proliferation | 22/2311 | 104/18723 | 7.59e-03 | 4.04e-02 | 22 |
GO:0050858 | Cervix | CC | negative regulation of antigen receptor-mediated signaling pathway | 9/2311 | 30/18723 | 8.28e-03 | 4.28e-02 | 9 |
GO:00460374 | Cervix | CC | GMP metabolic process | 6/2311 | 16/18723 | 9.35e-03 | 4.66e-02 | 6 |
GO:00158337 | Cervix | CC | peptide transport | 46/2311 | 264/18723 | 9.69e-03 | 4.78e-02 | 46 |
GO:00357742 | Cervix | CC | positive regulation of insulin secretion involved in cellular response to glucose stimulus | 10/2311 | 36/18723 | 9.87e-03 | 4.85e-02 | 10 |
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 |