GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00329702 | Colorectum | MSS | regulation of actin filament-based process | 128/3467 | 397/18723 | 2.47e-11 | 3.49e-09 | 128 |
GO:00300482 | Colorectum | MSS | actin filament-based movement | 44/3467 | 127/18723 | 1.11e-05 | 2.64e-04 | 44 |
GO:00989012 | Colorectum | MSS | regulation of cardiac muscle cell action potential | 15/3467 | 27/18723 | 1.81e-05 | 3.95e-04 | 15 |
GO:00989112 | Colorectum | MSS | regulation of ventricular cardiac muscle cell action potential | 9/3467 | 12/18723 | 3.24e-05 | 6.37e-04 | 9 |
GO:00860042 | Colorectum | MSS | regulation of cardiac muscle cell contraction | 15/3467 | 34/18723 | 5.22e-04 | 5.99e-03 | 15 |
GO:0086001 | Colorectum | MSS | cardiac muscle cell action potential | 26/3467 | 76/18723 | 8.18e-04 | 8.59e-03 | 26 |
GO:0086065 | Colorectum | MSS | cell communication involved in cardiac conduction | 21/3467 | 58/18723 | 1.11e-03 | 1.09e-02 | 21 |
GO:00902572 | Colorectum | MSS | regulation of muscle system process | 66/3467 | 252/18723 | 1.55e-03 | 1.41e-02 | 66 |
GO:00487362 | Colorectum | MSS | appendage development | 48/3467 | 172/18723 | 1.61e-03 | 1.46e-02 | 48 |
GO:00601732 | Colorectum | MSS | limb development | 48/3467 | 172/18723 | 1.61e-03 | 1.46e-02 | 48 |
GO:00516512 | Colorectum | MSS | maintenance of location in cell | 57/3467 | 214/18723 | 2.07e-03 | 1.76e-02 | 57 |
GO:0086005 | Colorectum | MSS | ventricular cardiac muscle cell action potential | 14/3467 | 35/18723 | 2.50e-03 | 2.01e-02 | 14 |
GO:0086091 | Colorectum | MSS | regulation of heart rate by cardiac conduction | 15/3467 | 39/18723 | 2.80e-03 | 2.19e-02 | 15 |
GO:1903115 | Colorectum | MSS | regulation of actin filament-based movement | 15/3467 | 39/18723 | 2.80e-03 | 2.19e-02 | 15 |
GO:0086064 | Colorectum | MSS | cell communication by electrical coupling involved in cardiac conduction | 11/3467 | 25/18723 | 2.96e-03 | 2.28e-02 | 11 |
GO:0070252 | Colorectum | MSS | actin-mediated cell contraction | 29/3467 | 97/18723 | 4.38e-03 | 3.10e-02 | 29 |
GO:0051349 | Colorectum | MSS | positive regulation of lyase activity | 10/3467 | 23/18723 | 5.06e-03 | 3.47e-02 | 10 |
GO:0086003 | Colorectum | MSS | cardiac muscle cell contraction | 23/3467 | 73/18723 | 5.22e-03 | 3.57e-02 | 23 |
GO:00030121 | Colorectum | MSS | muscle system process | 105/3467 | 452/18723 | 6.39e-03 | 4.26e-02 | 105 |
GO:00329704 | Colorectum | FAP | regulation of actin filament-based process | 105/2622 | 397/18723 | 3.15e-11 | 1.38e-08 | 105 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa050104 | Colorectum | MSS | Alzheimer disease | 169/1875 | 384/8465 | 1.21e-22 | 1.01e-20 | 6.21e-21 | 169 |
hsa050204 | Colorectum | MSS | Prion disease | 129/1875 | 273/8465 | 1.04e-20 | 5.00e-19 | 3.06e-19 | 129 |
hsa050224 | Colorectum | MSS | Pathways of neurodegeneration - multiple diseases | 192/1875 | 476/8465 | 2.79e-20 | 1.04e-18 | 6.36e-19 | 192 |
hsa047234 | Colorectum | MSS | Retrograde endocannabinoid signaling | 61/1875 | 148/8465 | 1.21e-07 | 1.93e-06 | 1.18e-06 | 61 |
hsa049124 | Colorectum | MSS | GnRH signaling pathway | 35/1875 | 93/8465 | 4.81e-04 | 3.43e-03 | 2.10e-03 | 35 |
hsa04935 | Colorectum | MSS | Growth hormone synthesis, secretion and action | 42/1875 | 120/8465 | 8.17e-04 | 5.16e-03 | 3.16e-03 | 42 |
hsa047284 | Colorectum | MSS | Dopaminergic synapse | 45/1875 | 132/8465 | 1.02e-03 | 5.94e-03 | 3.64e-03 | 45 |
hsa042604 | Colorectum | MSS | Cardiac muscle contraction | 31/1875 | 87/8465 | 2.73e-03 | 1.32e-02 | 8.12e-03 | 31 |
hsa04022 | Colorectum | MSS | cGMP-PKG signaling pathway | 51/1875 | 167/8465 | 6.83e-03 | 2.73e-02 | 1.67e-02 | 51 |
hsa047204 | Colorectum | MSS | Long-term potentiation | 24/1875 | 67/8465 | 7.27e-03 | 2.83e-02 | 1.73e-02 | 24 |
hsa04713 | Colorectum | MSS | Circadian entrainment | 32/1875 | 97/8465 | 8.84e-03 | 3.25e-02 | 1.99e-02 | 32 |
hsa04725 | Colorectum | MSS | Cholinergic synapse | 36/1875 | 113/8465 | 1.05e-02 | 3.69e-02 | 2.26e-02 | 36 |
hsa050105 | Colorectum | MSS | Alzheimer disease | 169/1875 | 384/8465 | 1.21e-22 | 1.01e-20 | 6.21e-21 | 169 |
hsa050205 | Colorectum | MSS | Prion disease | 129/1875 | 273/8465 | 1.04e-20 | 5.00e-19 | 3.06e-19 | 129 |
hsa050225 | Colorectum | MSS | Pathways of neurodegeneration - multiple diseases | 192/1875 | 476/8465 | 2.79e-20 | 1.04e-18 | 6.36e-19 | 192 |
hsa047235 | Colorectum | MSS | Retrograde endocannabinoid signaling | 61/1875 | 148/8465 | 1.21e-07 | 1.93e-06 | 1.18e-06 | 61 |
hsa049125 | Colorectum | MSS | GnRH signaling pathway | 35/1875 | 93/8465 | 4.81e-04 | 3.43e-03 | 2.10e-03 | 35 |
hsa049351 | Colorectum | MSS | Growth hormone synthesis, secretion and action | 42/1875 | 120/8465 | 8.17e-04 | 5.16e-03 | 3.16e-03 | 42 |
hsa047285 | Colorectum | MSS | Dopaminergic synapse | 45/1875 | 132/8465 | 1.02e-03 | 5.94e-03 | 3.64e-03 | 45 |
hsa042605 | Colorectum | MSS | Cardiac muscle contraction | 31/1875 | 87/8465 | 2.73e-03 | 1.32e-02 | 8.12e-03 | 31 |
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 |
CACNA1C | SNV | Missense_Mutation | | c.553T>A | p.Phe185Ile | p.F185I | Q13936 | protein_coding | deleterious(0.03) | benign(0.009) | TCGA-C8-A12V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
CACNA1C | SNV | Missense_Mutation | | c.5848N>C | p.Glu1950Gln | p.E1950Q | Q13936 | protein_coding | tolerated_low_confidence(0.33) | probably_damaging(0.997) | TCGA-D8-A1Y3-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicine+cyclophosphamide | SD |
CACNA1C | SNV | Missense_Mutation | rs750853060 | c.1591A>G | p.Ile531Val | p.I531V | Q13936 | protein_coding | deleterious(0) | probably_damaging(0.982) | TCGA-E9-A1N5-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
CACNA1C | SNV | Missense_Mutation | rs747081750 | c.1511N>A | p.Arg504His | p.R504H | Q13936 | protein_coding | deleterious(0.01) | probably_damaging(0.998) | TCGA-EW-A1OZ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Targeted Molecular therapy | trastuzumab | SD |
CACNA1C | SNV | Missense_Mutation | novel | c.6052N>T | p.Pro2018Ser | p.P2018S | Q13936 | protein_coding | deleterious_low_confidence(0) | possibly_damaging(0.628) | TCGA-OL-A5RW-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | CR |
CACNA1C | SNV | Missense_Mutation | rs750411964 | c.6163N>A | p.Ala2055Thr | p.A2055T | Q13936 | protein_coding | tolerated_low_confidence(0.21) | benign(0.003) | TCGA-OL-A66K-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CACNA1C | insertion | Nonsense_Mutation | novel | c.5083_5084insTCTACAGGAGGTGGTG | p.Asn1695IlefsTer6 | p.N1695Ifs*6 | Q13936 | protein_coding | | | TCGA-A8-A09E-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | anastrozole | SD |
CACNA1C | insertion | Nonsense_Mutation | novel | c.6160_6161insAGACAACCTGAGCTAGAGACTGGCAGGGCATTATGAATG | p.Ser2054delinsLysThrThrTerAlaArgAspTrpGlnGlyIleMetAsnGly | p.S2054delinsKTT*ARDWQGIMNG | Q13936 | protein_coding | | | TCGA-A8-A09Q-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | anastrozole | SD |
CACNA1C | insertion | Frame_Shift_Ins | novel | c.2139_2140insAAAAAAAGCTTTCTTTCTGTTTA | p.Asp714LysfsTer8 | p.D714Kfs*8 | Q13936 | protein_coding | | | TCGA-AN-A049-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
CACNA1C | insertion | In_Frame_Ins | novel | c.2141_2142insGACCAACAG | p.Asp714delinsGluThrAsnSer | p.D714delinsETNS | Q13936 | protein_coding | | | TCGA-AN-A049-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
775 | CACNA1C | DRUGGABLE GENOME, ION CHANNEL | blocker | CHEMBL1200402 | AMLODIPINE BESYLATE | |
775 | CACNA1C | DRUGGABLE GENOME, ION CHANNEL | blocker | 135650185 | DILTIAZEM | |
775 | CACNA1C | DRUGGABLE GENOME, ION CHANNEL | blocker | 53801058 | MIBEFRADIL | |
775 | CACNA1C | DRUGGABLE GENOME, ION CHANNEL | | VERAPAMIL | VERAPAMIL | |
775 | CACNA1C | DRUGGABLE GENOME, ION CHANNEL | blocker | CHEMBL29919 | ELPETRIGINE | |
775 | CACNA1C | DRUGGABLE GENOME, ION CHANNEL | inhibitor | 135650722 | NISOLDIPINE | |
775 | CACNA1C | DRUGGABLE GENOME, ION CHANNEL | modulator | CHEMBL2103836 | IMAGABALIN | |
775 | CACNA1C | DRUGGABLE GENOME, ION CHANNEL | blocker | CHEMBL1648 | ISRADIPINE | |
775 | CACNA1C | DRUGGABLE GENOME, ION CHANNEL | blocker | CHEMBL193 | NIFEDIPINE | |
775 | CACNA1C | DRUGGABLE GENOME, ION CHANNEL | | ARC029 | | |