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Phenotypic Information (metabolism pathway, cancer, disease, phenome) | |
Gene-Gene Network Information: Co-Expression Network, Interacting Genes & KEGG | |
Gene Summary for CACNB2 |
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Phenotypic Information for CACNB2(metabolism pathway, cancer, disease, phenome) |
Cancer Description | |
Cancer | CGAP: CACNB2 |
Familial Cancer Database: CACNB2 |
* 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/ |
Metabolic Pathway Description | |
REACTOME_INTEGRATION_OF_ENERGY_METABOLISM |
Others | |
OMIM | |
Orphanet | |
Disease | KEGG Disease: CACNB2 |
MedGen: CACNB2 (Human Medical Genetics with Condition) | |
ClinVar: CACNB2 | |
Phenotype | MGI: CACNB2 (International Mouse Phenotyping Consortium) |
PhenomicDB: CACNB2 |
Mutations for CACNB2 |
* 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. |
Structural Variants in COSMIC: go to COSMIC mutation histogram |
- Statistics for Tissue and Mutation type | Top |
- For Inter-chromosomal Variations |
* Inter-chromosomal variantions includes 'interchromosomal amplicon to amplicon', 'interchromosomal amplicon to non-amplified dna', 'interchromosomal insertion', 'Interchromosomal unknown type'. |
- For Intra-chromosomal Variations |
* Intra-chromosomal variantions includes 'intrachromosomal amplicon to amplicon', 'intrachromosomal amplicon to non-amplified dna', 'intrachromosomal deletion', 'intrachromosomal fold-back inversion', 'intrachromosomal inversion', 'intrachromosomal tandem duplication', 'Intrachromosomal unknown type', 'intrachromosomal with inverted orientation', 'intrachromosomal with non-inverted orientation'. |
Sample | Symbol_a | Chr_a | Start_a | End_a | Symbol_b | Chr_b | Start_b | End_b |
ovary | CACNB2 | chr10 | 18765925 | 18765945 | chr10 | 32438586 | 32438606 | |
ovary | CACNB2 | chr10 | 18786368 | 18786388 | CACNB2 | chr10 | 18787524 | 18787544 |
pancreas | CACNB2 | chr10 | 18771559 | 18771579 | CACNB2 | chr10 | 18772786 | 18772806 |
prostate | CACNB2 | chr10 | 18775843 | 18775843 | chr10 | 111523505 | 111523505 |
cf) Tissue number; Tissue name (1;Breast, 2;Central_nervous_system, 3;Haematopoietic_and_lymphoid_tissue, 4;Large_intestine, 5;Liver, 6;Lung, 7;Ovary, 8;Pancreas, 9;Prostate, 10;Skin, 11;Soft_tissue, 12;Upper_aerodigestive_tract) |
Related fusion transcripts : go to Chitars2.0 |
* From mRNA Sanger sequences, Chitars2.0 arranged chimeric transcripts. This table shows CACNB2 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 |
DA505169 | MAP9 | 1 | 202 | 4 | 156297921 | 156298122 | CACNB2 | 199 | 515 | 10 | 18802449 | 18834460 | |
CB962120 | CACNB2 | 1 | 413 | 10 | 18499947 | 18500360 | SPARCL1 | 402 | 612 | 4 | 88401541 | 88403655 | |
BF222031 | KLK3 | 1 | 172 | 19 | 51363849 | 51364020 | CACNB2 | 171 | 248 | 10 | 18484079 | 18484156 | |
BQ380638 | PTPRK | 25 | 46 | 6 | 128407537 | 128407558 | CACNB2 | 45 | 70 | 10 | 18679996 | 18680030 | |
BF921318 | CACNB2 | 21 | 321 | 10 | 18827246 | 18828413 | NUP98 | 313 | 553 | 11 | 3793058 | 3797143 | |
BF922976 | CACNB2 | 5 | 320 | 10 | 18827246 | 18828431 | NUP98 | 312 | 586 | 11 | 3793058 | 3797177 | |
AW005394 | CACNB2 | 5 | 183 | 10 | 18820778 | 18822031 | PCGF2 | 181 | 638 | 17 | 36894605 | 36895928 |
Other DBs for Structural Variants |
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Copy Number Variations in COSMIC: go to COSMIC mutation CNV/Expr |
Mutation type/ Tissue ID | brca | cns | cerv | endome | haematopo | kidn | Lintest | liver | lung | ns | ovary | pancre | prost | skin | stoma | thyro | urina | |||
Total # sample | 5 |   |   |   |   |   |   |   | 1 |   | 4 |   |   |   | 1 |   | 1 | |||
GAIN (# sample) | 5 |   |   |   |   |   |   |   | 1 |   | 1 |   |   |   |   |   | 1 | |||
LOSS (# sample) |   |   |   |   |   |   |   |   |   |   | 3 |   |   |   | 1 |   |   |
cf) Tissue ID; Tissue type (1; Breast, 2; Central_nervous_system, 3; Cervix, 4; Endometrium, 5; Haematopoietic_and_lymphoid_tissue, 6; Kidney, 7; Large_intestine, 8; Liver, 9; Lung, 10; NS, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary_tract) |
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SNV Counts per Each Loci in COSMIC data: go to COSMIC point mutation |
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Somatic Mutation Counts per Tissue in COSMIC data |
Stat. for Non-Synonymous SNVs (# total SNVs=72) | (# total SNVs=16) |
(# total SNVs=2) | (# total SNVs=1) |
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Top 10 SNVs Having the Most Samples in COSMIC data |
* 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 |
chr10:18828550-18828550 | p.R572H | 4 |
chr10:18828421-18828421 | p.S529L | 3 |
chr10:18828493-18828493 | p.R553H | 3 |
chr10:18828510-18828510 | p.R559R | 3 |
chr10:18823074-18823074 | p.A320V | 2 |
chr10:18789772-18789772 | p.L108S | 2 |
chr10:18828645-18828645 | p.R604C | 2 |
chr10:18690935-18690935 | p.A44G | 2 |
chr10:18690937-18690937 | p.E45K | 2 |
chr10:18827148-18827148 | p.D393N | 2 |
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SNV Counts per Each Loci in TCGA data |
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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 | 2 | 3 |   | 15 | 1 |   | 4 |   | 2 |   |   | 9 | 5 |   |   | 2 | 16 | 11 |   | 9 |
# mutation | 2 | 3 |   | 13 | 1 |   | 4 |   | 2 |   |   | 11 | 5 |   |   | 2 | 17 | 14 |   | 16 |
nonsynonymous SNV | 2 | 2 |   | 10 |   |   | 3 |   | 1 |   |   | 8 | 5 |   |   | 2 | 12 | 12 |   | 11 |
synonymous SNV |   | 1 |   | 3 | 1 |   | 1 |   | 1 |   |   | 3 |   |   |   |   | 5 | 2 |   | 5 |
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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Top 10 SNVs Having the Most Samples in TCGA data |
* 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 |
chr10:18828550 | p.R572H,CACNB2 | 3 |
chr10:18828493 | p.R553H,CACNB2 | 2 |
chr10:18828191 | p.A285T,CACNB2 | 1 |
chr10:18690886 | p.D383N,CACNB2 | 1 |
chr10:18807318 | p.K472T,CACNB2 | 1 |
chr10:18828395 | p.R591R,CACNB2 | 1 |
chr10:18787377 | p.D36Y,CACNB2 | 1 |
chr10:18823141 | p.S142S,CACNB2 | 1 |
chr10:18827198 | p.A297A,CACNB2 | 1 |
chr10:18795465 | p.H397Q,CACNB2 | 1 |
Other DBs for Point Mutations |
Copy Number for CACNB2 in TCGA |
* 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. |
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 CACNB2 |
Gene Expression in Cancer Cell-lines (CCLE) |
* CCLE gene expression data were extracted from CCLE_Expression_Entrez_2012-10-18.res: Gene-centric RMA-normalized mRNA expression data. |
Differential Gene Expression in Primary Tumors (TCGA) |
* 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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CNV vs Gene Expression Plot |
* This plots show the correlation between CNV and gene expression. |
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Gene-Gene Network Information |
Co-Expressed gene's network Plot |
* 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 |
BAI2,CACNB2,CARTPT,CDHR3,CNKSR3,CPE,DCLK1, DDX25,FGF10,GPRIN3,GRIK1,IQSEC2,UNC79,LRP2, LRRN4,MAST4,NTRK2,PCSK1,SIAH3,SLC1A2,SYT4 | ADAMTS3,CACNB2,CBLN4,CHIC1,CYP3A7,DNAJC18,DZIP1, FKBP7,IFT80,LOC399959,LRRC49,LTBP1,MEIS1,NAP1L3, OGN,PAPPA,PROS1,SEMA3D,TRPC1,ZC3H12B,ZDHHC15 | ||||
ARG1,AVPR1A,CACNB2,CLEC4D,CXCR1,SUPT20HL2,IL7R, LINGO4,MGAM,MRGPRE,NAIP,NHSL2,OR2T12,PGLYRP1, PREX2,RPH3A,SELE,TCTE1,THSD7A,TNC,WNK3 | ANO6,BOK,TMEM245,CACNB2,DCLK2,DDHD2,ECM2, CCSER2,FZD7,GRB10,HOXA4,MTUS2,NAB2,SPACA6P, RGS5,SEC22C,SESTD1,STK33,TPPP3,TRNP1,TRPC1 |
Co-Expressed gene's Protein-protein interaction Network Plot |
* 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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Interacting Genes (from Pathway Commons) |
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Pharmacological Information for CACNB2 |
Cross-referenced pharmacological DB IDs from Uniprot |
DB Category | DB Name | DB's ID and Url link |
Drug-Gene Interaction Network |
* Gene Centered Interaction Network. |
* Drug Centered Interaction Network. |
DrugBank ID | Target Name | Drug Groups | Generic Name | Drug Centered Network | Drug Structure |
DB00270 | calcium channel, voltage-dependent, beta 2 subunit | approved | Isradipine | ||
DB00381 | calcium channel, voltage-dependent, beta 2 subunit | approved | Amlodipine | ||
DB00393 | calcium channel, voltage-dependent, beta 2 subunit | approved | Nimodipine | ||
DB00401 | calcium channel, voltage-dependent, beta 2 subunit | approved | Nisoldipine | ||
DB00622 | calcium channel, voltage-dependent, beta 2 subunit | approved | Nicardipine | ||
DB00653 | calcium channel, voltage-dependent, beta 2 subunit | approved | Magnesium Sulfate | ||
DB00661 | calcium channel, voltage-dependent, beta 2 subunit | approved | Verapamil | ||
DB01023 | calcium channel, voltage-dependent, beta 2 subunit | approved; investigational | Felodipine | ||
DB01054 | calcium channel, voltage-dependent, beta 2 subunit | approved | Nitrendipine | ||
DB01115 | calcium channel, voltage-dependent, beta 2 subunit | approved | Nifedipine | ||
DB01388 | calcium channel, voltage-dependent, beta 2 subunit | withdrawn | Mibefradil | ||
DB06712 | calcium channel, voltage-dependent, beta 2 subunit | approved | Nilvadipine |
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Cross referenced IDs for CACNB2 |
* 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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