GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:001003814 | Breast | IDC | response to metal ion | 65/1434 | 373/18723 | 2.95e-10 | 3.42e-08 | 65 |
GO:004885713 | Breast | IDC | neural nucleus development | 21/1434 | 64/18723 | 5.35e-09 | 4.28e-07 | 21 |
GO:000963613 | Breast | IDC | response to toxic substance | 44/1434 | 262/18723 | 6.33e-07 | 3.00e-05 | 44 |
GO:000931412 | Breast | IDC | response to radiation | 62/1434 | 456/18723 | 6.91e-06 | 2.10e-04 | 62 |
GO:009723713 | Breast | IDC | cellular response to toxic substance | 24/1434 | 124/18723 | 2.05e-05 | 4.97e-04 | 24 |
GO:001095913 | Breast | IDC | regulation of metal ion transport | 52/1434 | 406/18723 | 1.76e-04 | 2.97e-03 | 52 |
GO:009730514 | Breast | IDC | response to alcohol | 36/1434 | 253/18723 | 2.29e-04 | 3.64e-03 | 36 |
GO:003241111 | Breast | IDC | positive regulation of transporter activity | 20/1434 | 120/18723 | 7.64e-04 | 9.27e-03 | 20 |
GO:00140751 | Breast | IDC | response to amine | 11/1434 | 49/18723 | 9.88e-04 | 1.11e-02 | 11 |
GO:00432703 | Breast | IDC | positive regulation of ion transport | 36/1434 | 275/18723 | 1.11e-03 | 1.22e-02 | 36 |
GO:002289812 | Breast | IDC | regulation of transmembrane transporter activity | 36/1434 | 278/18723 | 1.35e-03 | 1.40e-02 | 36 |
GO:003241411 | Breast | IDC | positive regulation of ion transmembrane transporter activity | 18/1434 | 109/18723 | 1.53e-03 | 1.53e-02 | 18 |
GO:00454713 | Breast | IDC | response to ethanol | 21/1434 | 137/18723 | 1.72e-03 | 1.67e-02 | 21 |
GO:003476711 | Breast | IDC | positive regulation of ion transmembrane transport | 24/1434 | 167/18723 | 2.07e-03 | 1.95e-02 | 24 |
GO:199008912 | Breast | IDC | response to nerve growth factor | 11/1434 | 56/18723 | 3.08e-03 | 2.61e-02 | 11 |
GO:00423912 | Breast | IDC | regulation of membrane potential | 49/1434 | 434/18723 | 4.04e-03 | 3.25e-02 | 49 |
GO:007124113 | Breast | IDC | cellular response to inorganic substance | 29/1434 | 226/18723 | 4.28e-03 | 3.34e-02 | 29 |
GO:00324125 | Breast | IDC | regulation of ion transmembrane transporter activity | 33/1434 | 267/18723 | 4.38e-03 | 3.40e-02 | 33 |
GO:00324096 | Breast | IDC | regulation of transporter activity | 37/1434 | 310/18723 | 4.77e-03 | 3.66e-02 | 37 |
GO:00347644 | Breast | IDC | positive regulation of transmembrane transport | 28/1434 | 219/18723 | 5.19e-03 | 3.86e-02 | 28 |
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 |
KCNC2 | SNV | Missense_Mutation | | c.1762G>A | p.Asp588Asn | p.D588N | Q96PR1 | protein_coding | deleterious_low_confidence(0.01) | possibly_damaging(0.889) | TCGA-AR-A0TU-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Doxorubicin | SD |
KCNC2 | SNV | Missense_Mutation | | c.1760N>T | p.Ser587Phe | p.S587F | Q96PR1 | protein_coding | deleterious_low_confidence(0.02) | benign(0.212) | TCGA-BH-A0HF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
KCNC2 | SNV | Missense_Mutation | | c.1382G>A | p.Gly461Glu | p.G461E | Q96PR1 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-D8-A1JA-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | PD |
KCNC2 | SNV | Missense_Mutation | | c.857A>T | p.Glu286Val | p.E286V | Q96PR1 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-E9-A22G-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
KCNC2 | insertion | Nonsense_Mutation | novel | c.786_787insTGCAAATTCTTCTAATATATATCTAACAACTGTT | p.Pro263CysfsTer5 | p.P263Cfs*5 | Q96PR1 | protein_coding | | | TCGA-BH-A0HK-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
KCNC2 | SNV | Missense_Mutation | novel | c.800N>A | p.Gly267Asp | p.G267D | Q96PR1 | protein_coding | tolerated(0.33) | benign(0.005) | TCGA-EA-A410-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
KCNC2 | SNV | Missense_Mutation | rs773079241 | c.517G>A | p.Asp173Asn | p.D173N | Q96PR1 | protein_coding | deleterious(0.03) | benign(0.007) | TCGA-FU-A3HZ-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
KCNC2 | insertion | Frame_Shift_Ins | novel | c.158_159insA | p.Leu54AlafsTer199 | p.L54Afs*199 | Q96PR1 | protein_coding | | | TCGA-MA-AA42-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Unknown | Unknown | SD |
KCNC2 | SNV | Missense_Mutation | | c.245N>T | p.Ala82Val | p.A82V | Q96PR1 | protein_coding | deleterious_low_confidence(0.02) | probably_damaging(0.992) | TCGA-A6-6780-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
KCNC2 | SNV | Missense_Mutation | rs199735865 | c.1684N>T | p.Arg562Cys | p.R562C | Q96PR1 | protein_coding | tolerated_low_confidence(0.09) | benign(0.014) | TCGA-AA-3877-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
3747 | KCNC2 | DRUGGABLE GENOME, ION CHANNEL, KINASE | blocker | CHEMBL1200728 | GUANIDINE HYDROCHLORIDE | |
3747 | KCNC2 | DRUGGABLE GENOME, ION CHANNEL, KINASE | blocker | CHEMBL113461 | TEDISAMIL | |
3747 | KCNC2 | DRUGGABLE GENOME, ION CHANNEL, KINASE | blocker | CHEMBL2107762 | NERISPIRDINE | |
3747 | KCNC2 | DRUGGABLE GENOME, ION CHANNEL, KINASE | blocker | CHEMBL284348 | DALFAMPRIDINE | |
3747 | KCNC2 | DRUGGABLE GENOME, ION CHANNEL, KINASE | blocker | 135652463 | | |