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Phenotypic Information (metabolism pathway, cancer, disease, phenome) | |
Gene-Gene Network Information: Co-Expression Network, Interacting Genes & KEGG | |
Gene Summary for CACNB3 |
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Phenotypic Information for CACNB3(metabolism pathway, cancer, disease, phenome) |
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Cancer | CGAP: CACNB3 |
Familial Cancer Database: CACNB3 |
* This gene is included in those cancer gene databases. |
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Oncogene 1 | Significant driver gene in |
cf) number; DB name 1 Oncogene; http://nar.oxfordjournals.org/content/35/suppl_1/D721.long, 2 Tumor Suppressor gene; https://bioinfo.uth.edu/TSGene/, 3 Cancer Gene Census; http://www.nature.com/nrc/journal/v4/n3/abs/nrc1299.html, 4 CancerGenes; http://nar.oxfordjournals.org/content/35/suppl_1/D721.long, 5 Network of Cancer Gene; http://ncg.kcl.ac.uk/index.php, 1Therapeutic Vulnerabilities in Cancer; http://cbio.mskcc.org/cancergenomics/statius/ |
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REACTOME_INTEGRATION_OF_ENERGY_METABOLISM |
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OMIM | |
Orphanet | |
Disease | KEGG Disease: CACNB3 |
MedGen: CACNB3 (Human Medical Genetics with Condition) | |
ClinVar: CACNB3 | |
Phenotype | MGI: CACNB3 (International Mouse Phenotyping Consortium) |
PhenomicDB: CACNB3 |
Mutations for CACNB3 |
* Under tables are showing count per each tissue to give us broad intuition about tissue specific mutation patterns.You can go to the detailed page for each mutation database's web site. |
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There's no structural variation information in COSMIC data for this gene. |
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* From mRNA Sanger sequences, Chitars2.0 arranged chimeric transcripts. This table shows CACNB3 related fusion information. |
ID | Head Gene | Tail Gene | Accession | Gene_a | qStart_a | qEnd_a | Chromosome_a | tStart_a | tEnd_a | Gene_a | qStart_a | qEnd_a | Chromosome_a | tStart_a | tEnd_a |
CB156174 | CACNB3 | 1 | 313 | 12 | 49221882 | 49222194 | CACNB3 | 308 | 585 | 12 | 49222449 | 49222724 |
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There's no copy number variation information in COSMIC data for this gene. |
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Stat. for Non-Synonymous SNVs (# total SNVs=21) | (# total SNVs=13) |
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(# total SNVs=0) | (# total SNVs=0) |
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* When you move the cursor on each content, you can see more deailed mutation information on the Tooltip. Those are primary_site,primary_histology,mutation(aa),pubmedID. |
GRCh37 position | Mutation(aa) | Unique sampleID count |
chr12:49217258-49217258 | p.? | 2 |
chr12:49218455-49218455 | p.R137R | 2 |
chr12:49217487-49217487 | p.V64V | 2 |
chr12:49220259-49220259 | p.S284S | 2 |
chr12:49217497-49217497 | p.V68I | 2 |
chr12:49217255-49217255 | p.? | 2 |
chr12:49220851-49220851 | p.H362P | 1 |
chr12:49217593-49217593 | p.? | 1 |
chr12:49221670-49221670 | p.K481N | 1 |
chr12:49220218-49220218 | p.A271T | 1 |
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Point Mutation/ Tissue ID | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | 12 | 13 | 14 | 15 | 16 | 17 | 18 | 19 | 20 |
# sample |   | 1 |   | 8 | 4 |   | 2 |   |   |   |   | 2 | 3 |   |   |   | 3 | 4 | 1 | 4 |
# mutation |   | 1 |   | 7 | 4 |   | 2 |   |   |   |   | 2 | 3 |   |   |   | 3 | 4 | 1 | 6 |
nonsynonymous SNV |   | 1 |   | 3 | 2 |   | 2 |   |   |   |   |   | 2 |   |   |   | 1 | 2 | 1 | 5 |
synonymous SNV |   |   |   | 4 | 2 |   |   |   |   |   |   | 2 | 1 |   |   |   | 2 | 2 |   | 1 |
cf) Tissue ID; Tissue type (1; BLCA[Bladder Urothelial Carcinoma], 2; BRCA[Breast invasive carcinoma], 3; CESC[Cervical squamous cell carcinoma and endocervical adenocarcinoma], 4; COAD[Colon adenocarcinoma], 5; GBM[Glioblastoma multiforme], 6; Glioma Low Grade, 7; HNSC[Head and Neck squamous cell carcinoma], 8; KICH[Kidney Chromophobe], 9; KIRC[Kidney renal clear cell carcinoma], 10; KIRP[Kidney renal papillary cell carcinoma], 11; LAML[Acute Myeloid Leukemia], 12; LUAD[Lung adenocarcinoma], 13; LUSC[Lung squamous cell carcinoma], 14; OV[Ovarian serous cystadenocarcinoma ], 15; PAAD[Pancreatic adenocarcinoma], 16; PRAD[Prostate adenocarcinoma], 17; SKCM[Skin Cutaneous Melanoma], 18:STAD[Stomach adenocarcinoma], 19:THCA[Thyroid carcinoma], 20:UCEC[Uterine Corpus Endometrial Carcinoma]) |
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* We represented just top 10 SNVs. When you move the cursor on each content, you can see more deailed mutation information on the Tooltip. Those are primary_site, primary_histology, mutation(aa), pubmedID. |
Genomic Position | Mutation(aa) | Unique sampleID count |
chr12:49220217 | p.T275T,CACNB3 | 2 |
chr12:49220595 | p.D229D,CACNB3 | 2 |
chr12:49217552 | p.N86S,CACNB3 | 1 |
chr12:49221499 | p.D91Y,CACNB3 | 1 |
chr12:49217566 | p.I295V,CACNB3 | 1 |
chr12:49220218 | p.R96R,CACNB3 | 1 |
chr12:49221573 | p.T319T,CACNB3 | 1 |
chr12:49218455 | p.S101F,CACNB3 | 1 |
chr12:49220259 | p.P324L,CACNB3 | 1 |
chr12:49221583 | p.P112A,CACNB3 | 1 |
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* Copy number data were extracted from TCGA using R package TCGA-Assembler. The URLs of all public data files on TCGA DCC data server were gathered on Jan-05-2015. Function ProcessCNAData in TCGA-Assembler package was used to obtain gene-level copy number value which is calculated as the average copy number of the genomic region of a gene. |
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cf) Tissue ID[Tissue type]: BLCA[Bladder Urothelial Carcinoma], BRCA[Breast invasive carcinoma], CESC[Cervical squamous cell carcinoma and endocervical adenocarcinoma], COAD[Colon adenocarcinoma], GBM[Glioblastoma multiforme], Glioma Low Grade, HNSC[Head and Neck squamous cell carcinoma], KICH[Kidney Chromophobe], KIRC[Kidney renal clear cell carcinoma], KIRP[Kidney renal papillary cell carcinoma], LAML[Acute Myeloid Leukemia], LUAD[Lung adenocarcinoma], LUSC[Lung squamous cell carcinoma], OV[Ovarian serous cystadenocarcinoma ], PAAD[Pancreatic adenocarcinoma], PRAD[Prostate adenocarcinoma], SKCM[Skin Cutaneous Melanoma], STAD[Stomach adenocarcinoma], THCA[Thyroid carcinoma], UCEC[Uterine Corpus Endometrial Carcinoma] |
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Gene Expression for CACNB3 |
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* CCLE gene expression data were extracted from CCLE_Expression_Entrez_2012-10-18.res: Gene-centric RMA-normalized mRNA expression data. |
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* Normalized gene expression data of RNASeqV2 was extracted from TCGA using R package TCGA-Assembler. The URLs of all public data files on TCGA DCC data server were gathered at Jan-05-2015. Only eight cancer types have enough normal control samples for differential expression analysis. (t test, adjusted p<0.05 (using Benjamini-Hochberg FDR)) |
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* This plots show the correlation between CNV and gene expression. |
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Gene-Gene Network Information |
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* Co-Expression network figures were drawn using R package igraph. Only the top 20 genes with the highest correlations were shown. Red circle: input gene, orange circle: cell metabolism gene, sky circle: other gene |
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AP4M1,ARL8A,B3GNT8,RBBP8NL,CACFD1,CACNB3,CTXN1, CYTH2,DDAH2,FLOT1,MARCKSL1,MCRS1,NME4,PAFAH1B3, PRPF40B,REPIN1,ROGDI,RUSC1,SUV420H2,TFF3,ZNF467 | AGRN,ARHGEF19,CACNB3,CBLC,EFNA4,FBXL19,GPSM1, H2AFY2,ISYNA1,ITGA3,LOC92659,PRRG2,RTKN,SHF, SLC35B2,SLC4A3,SRC,STXBP2,SYTL1,TCF3,TRIM28 | ||||
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ABR,ALS2CL,CACNB3,CAPN8,CCDC64B,CYTH2,DGKA, EPS8L2,GOLGA2P5,HPX,LMBR1L,LTBP4,MARCH9,PRICKLE4, RAB5B,RARG,ROGDI,SCARNA17,SCX,SSH3,STAT6 | CACNB3,EEFSEC,EPHB4,ERCC2,FBRSL1,HES4,IVD, KLHL26,LOC285033,MMS19,PDDC1,PHLDB1,PPT2,PRR14, PTCD1,SIN3B,UBQLN4,ZDHHC8,ZNF74,ZNF785,ZNRF3 |
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* Co-Expression network figures were drawn using R package igraph. Only the top 20 genes with the highest correlations were shown. Red circle: input gene, orange circle: cell metabolism gene, sky circle: other gene |
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Pharmacological Information for CACNB3 |
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DB Category | DB Name | DB's ID and Url link |
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* Gene Centered Interaction Network. |
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* Drug Centered Interaction Network. |
DrugBank ID | Target Name | Drug Groups | Generic Name | Drug Centered Network | Drug Structure |
DB00393 | calcium channel, voltage-dependent, beta 3 subunit | approved | Nimodipine | ![]() | ![]() |
DB00661 | calcium channel, voltage-dependent, beta 3 subunit | approved | Verapamil | ![]() | ![]() |
DB01388 | calcium channel, voltage-dependent, beta 3 subunit | withdrawn | Mibefradil | ![]() | ![]() |
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Cross referenced IDs for CACNB3 |
* We obtained these cross-references from Uniprot database. It covers 150 different DBs, 18 categories. http://www.uniprot.org/help/cross_references_section |
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