GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00324124 | Lung | IAC | regulation of ion transmembrane transporter activity | 45/2061 | 267/18723 | 2.43e-03 | 2.33e-02 | 45 |
GO:00228984 | Lung | IAC | regulation of transmembrane transporter activity | 46/2061 | 278/18723 | 3.16e-03 | 2.75e-02 | 46 |
GO:00508085 | Lung | IAC | synapse organization | 65/2061 | 426/18723 | 4.05e-03 | 3.31e-02 | 65 |
GO:00324095 | Lung | IAC | regulation of transporter activity | 49/2061 | 310/18723 | 5.93e-03 | 4.30e-02 | 49 |
GO:19040622 | Lung | IAC | regulation of cation transmembrane transport | 55/2061 | 357/18723 | 6.36e-03 | 4.52e-02 | 55 |
GO:00109595 | Lung | IAC | regulation of metal ion transport | 61/2061 | 406/18723 | 7.31e-03 | 4.98e-02 | 61 |
GO:005080811 | Lung | AIS | synapse organization | 63/1849 | 426/18723 | 7.39e-04 | 1.07e-02 | 63 |
GO:003241211 | Lung | AIS | regulation of ion transmembrane transporter activity | 42/1849 | 267/18723 | 1.65e-03 | 1.89e-02 | 42 |
GO:002289811 | Lung | AIS | regulation of transmembrane transporter activity | 43/1849 | 278/18723 | 2.04e-03 | 2.24e-02 | 43 |
GO:001095912 | Lung | AIS | regulation of metal ion transport | 58/1849 | 406/18723 | 2.63e-03 | 2.67e-02 | 58 |
GO:003240911 | Lung | AIS | regulation of transporter activity | 45/1849 | 310/18723 | 5.54e-03 | 4.71e-02 | 45 |
GO:0006816 | Lung | AIS | calcium ion transport | 58/1849 | 422/18723 | 6.08e-03 | 4.98e-02 | 58 |
GO:003241221 | Lung | AAH | regulation of ion transmembrane transporter activity | 19/613 | 267/18723 | 1.33e-03 | 3.62e-02 | 19 |
GO:002289821 | Lung | AAH | regulation of transmembrane transporter activity | 19/613 | 278/18723 | 2.11e-03 | 4.61e-02 | 19 |
GO:00508087 | Prostate | BPH | synapse organization | 103/3107 | 426/18723 | 3.19e-05 | 3.61e-04 | 103 |
GO:005080813 | Prostate | Tumor | synapse organization | 105/3246 | 426/18723 | 7.20e-05 | 7.62e-04 | 105 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa040108 | Lung | IAC | MAPK signaling pathway | 62/1053 | 302/8465 | 3.54e-05 | 6.38e-04 | 4.24e-04 | 62 |
hsa054126 | Lung | IAC | Arrhythmogenic right ventricular cardiomyopathy | 22/1053 | 77/8465 | 1.15e-04 | 1.49e-03 | 9.88e-04 | 22 |
hsa04921 | Lung | IAC | Oxytocin signaling pathway | 33/1053 | 154/8465 | 1.09e-03 | 7.82e-03 | 5.19e-03 | 33 |
hsa05410 | Lung | IAC | Hypertrophic cardiomyopathy | 20/1053 | 90/8465 | 6.44e-03 | 2.68e-02 | 1.78e-02 | 20 |
hsa05414 | Lung | IAC | Dilated cardiomyopathy | 20/1053 | 96/8465 | 1.33e-02 | 4.64e-02 | 3.08e-02 | 20 |
hsa0401011 | Lung | IAC | MAPK signaling pathway | 62/1053 | 302/8465 | 3.54e-05 | 6.38e-04 | 4.24e-04 | 62 |
hsa0541211 | Lung | IAC | Arrhythmogenic right ventricular cardiomyopathy | 22/1053 | 77/8465 | 1.15e-04 | 1.49e-03 | 9.88e-04 | 22 |
hsa049211 | Lung | IAC | Oxytocin signaling pathway | 33/1053 | 154/8465 | 1.09e-03 | 7.82e-03 | 5.19e-03 | 33 |
hsa054101 | Lung | IAC | Hypertrophic cardiomyopathy | 20/1053 | 90/8465 | 6.44e-03 | 2.68e-02 | 1.78e-02 | 20 |
hsa054141 | Lung | IAC | Dilated cardiomyopathy | 20/1053 | 96/8465 | 1.33e-02 | 4.64e-02 | 3.08e-02 | 20 |
hsa0401021 | Lung | AIS | MAPK signaling pathway | 57/961 | 302/8465 | 6.41e-05 | 9.43e-04 | 6.03e-04 | 57 |
hsa0541221 | Lung | AIS | Arrhythmogenic right ventricular cardiomyopathy | 21/961 | 77/8465 | 9.05e-05 | 1.18e-03 | 7.57e-04 | 21 |
hsa049212 | Lung | AIS | Oxytocin signaling pathway | 34/961 | 154/8465 | 9.12e-05 | 1.18e-03 | 7.57e-04 | 34 |
hsa054142 | Lung | AIS | Dilated cardiomyopathy | 22/961 | 96/8465 | 9.02e-04 | 7.11e-03 | 4.55e-03 | 22 |
hsa054102 | Lung | AIS | Hypertrophic cardiomyopathy | 20/961 | 90/8465 | 2.25e-03 | 1.37e-02 | 8.80e-03 | 20 |
hsa0401031 | Lung | AIS | MAPK signaling pathway | 57/961 | 302/8465 | 6.41e-05 | 9.43e-04 | 6.03e-04 | 57 |
hsa0541231 | Lung | AIS | Arrhythmogenic right ventricular cardiomyopathy | 21/961 | 77/8465 | 9.05e-05 | 1.18e-03 | 7.57e-04 | 21 |
hsa049213 | Lung | AIS | Oxytocin signaling pathway | 34/961 | 154/8465 | 9.12e-05 | 1.18e-03 | 7.57e-04 | 34 |
hsa054143 | Lung | AIS | Dilated cardiomyopathy | 22/961 | 96/8465 | 9.02e-04 | 7.11e-03 | 4.55e-03 | 22 |
hsa054103 | Lung | AIS | Hypertrophic cardiomyopathy | 20/961 | 90/8465 | 2.25e-03 | 1.37e-02 | 8.80e-03 | 20 |
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 |
CACNB4 | SNV | Missense_Mutation | | c.883N>A | p.Glu295Lys | p.E295K | O00305 | protein_coding | deleterious(0) | probably_damaging(0.993) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
CACNB4 | SNV | Missense_Mutation | novel | c.1534N>C | p.Tyr512His | p.Y512H | O00305 | protein_coding | tolerated_low_confidence(0.48) | possibly_damaging(0.726) | TCGA-AN-A0AK-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CACNB4 | deletion | Frame_Shift_Del | | c.988delN | p.Ile330LeufsTer5 | p.I330Lfs*5 | O00305 | protein_coding | | | TCGA-EW-A2FV-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | docetaxel | SD |
CACNB4 | SNV | Missense_Mutation | | c.659N>A | p.Arg220His | p.R220H | O00305 | protein_coding | deleterious(0.01) | probably_damaging(0.997) | TCGA-C5-A2LX-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | SD |
CACNB4 | SNV | Missense_Mutation | novel | c.873N>C | p.Glu291Asp | p.E291D | O00305 | protein_coding | deleterious(0.01) | probably_damaging(0.942) | TCGA-C5-A2LZ-01 | Cervix | cervical & endocervical cancer | Female | >=65 | III/IV | Unknown | Unknown | PD |
CACNB4 | SNV | Missense_Mutation | novel | c.828N>C | p.Lys276Asn | p.K276N | O00305 | protein_coding | deleterious(0.02) | probably_damaging(0.996) | TCGA-EA-A3HU-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
CACNB4 | SNV | Missense_Mutation | | c.122N>T | p.Thr41Ile | p.T41I | O00305 | protein_coding | deleterious_low_confidence(0.03) | probably_damaging(0.969) | TCGA-FU-A3EO-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
CACNB4 | SNV | Missense_Mutation | | c.1186N>C | p.Glu396Gln | p.E396Q | O00305 | protein_coding | deleterious(0) | probably_damaging(0.991) | TCGA-IR-A3LK-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Chemotherapy | cisplatin | PD |
CACNB4 | SNV | Missense_Mutation | rs751883436 | c.325N>A | p.Glu109Lys | p.E109K | O00305 | protein_coding | deleterious(0.03) | probably_damaging(0.97) | TCGA-VS-A958-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
CACNB4 | SNV | Missense_Mutation | | c.659N>A | p.Arg220His | p.R220H | O00305 | protein_coding | deleterious(0.01) | probably_damaging(0.997) | TCGA-A6-6649-01 | Colorectum | colon adenocarcinoma | Male | >=65 | III/IV | Chemotherapy | fluorouracil | SD |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
785 | CACNB4 | DRUGGABLE GENOME, ION CHANNEL | | VERAPAMIL | VERAPAMIL | |
785 | CACNB4 | DRUGGABLE GENOME, ION CHANNEL | modulator | CHEMBL1059 | PREGABALIN | |
785 | CACNB4 | DRUGGABLE GENOME, ION CHANNEL | | SAFINAMIDE | SAFINAMIDE | |
785 | CACNB4 | DRUGGABLE GENOME, ION CHANNEL | modulator | CHEMBL1628502 | GABAPENTIN ENACARBIL | |
785 | CACNB4 | DRUGGABLE GENOME, ION CHANNEL | modulator | CHEMBL940 | GABAPENTIN | |
785 | CACNB4 | DRUGGABLE GENOME, ION CHANNEL | modulator | CHEMBL593430 | ATAGABALIN | |
785 | CACNB4 | DRUGGABLE GENOME, ION CHANNEL | blocker | CHEMBL1200382 | BEPRIDIL HYDROCHLORIDE | |
785 | CACNB4 | DRUGGABLE GENOME, ION CHANNEL | modulator | CHEMBL2103836 | IMAGABALIN | |
785 | CACNB4 | DRUGGABLE GENOME, ION CHANNEL | | celecoxib | CELECOXIB | 22336956 |
785 | CACNB4 | DRUGGABLE GENOME, ION CHANNEL | | ARVERAPAMIL | | |