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Fusion gene ID: 6486 |
FusionGeneSummary for CDK12_CACNB1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CDK12_CACNB1 | Fusion gene ID: 6486 | Hgene | Tgene | Gene symbol | CDK12 | CACNB1 | Gene ID | 51755 | 782 |
| Gene name | cyclin dependent kinase 12 | calcium voltage-gated channel auxiliary subunit beta 1 | |
| Synonyms | CRK7|CRKR|CRKRS | CAB1|CACNLB1|CCHLB1 | |
| Cytomap | 17q12 | 17q12 | |
| Type of gene | protein-coding | protein-coding | |
| Description | cyclin-dependent kinase 12CDC2-related protein kinase 7Cdc2-related kinase, arginine/serine-richcell division cycle 2-related protein kinase 7cell division protein kinase 12 | voltage-dependent L-type calcium channel subunit beta-1calcium channel voltage-dependent subunit beta 1calcium channel, L type, beta 1 polypeptidecalcium channel, voltage-dependent, beta 1 subunitdihydropyridine-sensitive L-type, calcium channel beta- | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q9NYV4 | Q02641 | |
| Ensembl transtripts involved in fusion gene | ENST00000430627, ENST00000447079, ENST00000559545, | ENST00000394303, ENST00000394310, ENST00000344140, ENST00000582877, | |
| Fusion gene scores | * DoF score | 20 X 10 X 12=2400 | 5 X 4 X 4=80 |
| # samples | 22 | 5 | |
| ** MAII score | log2(22/2400*10)=-3.44745897697122 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/80*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: CDK12 [Title/Abstract] AND CACNB1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | |||
| * DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Hgene | CDK12 | GO:0046777 | protein autophosphorylation | 11683387 |
| Fusion gene information from three resources (ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018)) * All genome coordinats were lifted-over on hg19. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
| Data type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| TCGA | RV | COAD | TCGA-AA-A02K-01A | CDK12 | chr17 | 37646986 | + | CACNB1 | chr17 | 37347846 | - |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| Frame-shift | ENST00000430627 | ENST00000394303 | CDK12 | chr17 | 37646986 | + | CACNB1 | chr17 | 37347846 | - |
| Frame-shift | ENST00000430627 | ENST00000394310 | CDK12 | chr17 | 37646986 | + | CACNB1 | chr17 | 37347846 | - |
| Frame-shift | ENST00000430627 | ENST00000344140 | CDK12 | chr17 | 37646986 | + | CACNB1 | chr17 | 37347846 | - |
| 5CDS-5UTR | ENST00000430627 | ENST00000582877 | CDK12 | chr17 | 37646986 | + | CACNB1 | chr17 | 37347846 | - |
| Frame-shift | ENST00000447079 | ENST00000394303 | CDK12 | chr17 | 37646986 | + | CACNB1 | chr17 | 37347846 | - |
| Frame-shift | ENST00000447079 | ENST00000394310 | CDK12 | chr17 | 37646986 | + | CACNB1 | chr17 | 37347846 | - |
| Frame-shift | ENST00000447079 | ENST00000344140 | CDK12 | chr17 | 37646986 | + | CACNB1 | chr17 | 37347846 | - |
| 5CDS-5UTR | ENST00000447079 | ENST00000582877 | CDK12 | chr17 | 37646986 | + | CACNB1 | chr17 | 37347846 | - |
| intron-3CDS | ENST00000559545 | ENST00000394303 | CDK12 | chr17 | 37646986 | + | CACNB1 | chr17 | 37347846 | - |
| intron-3CDS | ENST00000559545 | ENST00000394310 | CDK12 | chr17 | 37646986 | + | CACNB1 | chr17 | 37347846 | - |
| intron-3CDS | ENST00000559545 | ENST00000344140 | CDK12 | chr17 | 37646986 | + | CACNB1 | chr17 | 37347846 | - |
| intron-5UTR | ENST00000559545 | ENST00000582877 | CDK12 | chr17 | 37646986 | + | CACNB1 | chr17 | 37347846 | - |
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FusionProtFeatures for CDK12_CACNB1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CDK12 | CACNB1 |
| Cyclin-dependent kinase that phosphorylates the C-terminal domain (CTD) of the large subunit of RNA polymerase II(POLR2A), thereby acting as a key regulator of transcriptionelongation. Regulates the expression of genes involved in DNArepair and is required for the maintenance of genomic stability.Preferentially phosphorylates 'Ser-5' in CTD repeats that arealready phosphorylated at 'Ser-7', but can also phosphorylate'Ser-2'. Required for RNA splicing, possibly by phosphorylatingSRSF1/SF2. Involved in regulation of MAP kinase activity, possiblyleading to affect the response to estrogen inhibitors.{ECO:0000269|PubMed:11683387, ECO:0000269|PubMed:19651820,ECO:0000269|PubMed:20952539, ECO:0000269|PubMed:22012619,ECO:0000269|PubMed:24662513}. | The beta subunit of voltage-dependent calcium channelscontributes to the function of the calcium channel by increasingpeak calcium current, shifting the voltage dependencies ofactivation and inactivation, modulating G protein inhibition andcontrolling the alpha-1 subunit membrane targeting. |
| Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at . * Minus value of BPloci means that the break pointn is located before the CDS. |
| - In-frame and retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| - In-frame and not-retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for CDK12_CACNB1 |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (nt: nucleotides, aa: amino acids) |
| * Fusion amino acid sequences. |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| * Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for CDK12_CACNB1 |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| CDK12 | MGMT, SRRM2, RBM39, ELAVL1, MYC, PRPF4, CDK13, CCNK, TRIM24, IPPK, VPS51, ZNF606, TCEB3, BARD1, PAXIP1, PRPF40A, EWSR1, CDK20, CDK9, PIN1, RPL14, ACAA1, MAP4K4, SCAF4, SUPT16H, SRPK2, CLK1, BCLAF1, RNPS1, SNW1, PCGF1, CDX1, RPL37A, RRS1, ZNF2, FGF8, RPS14, WEE1, LASP1 | CACNB1 | NEDD4L, ATN1, APP, SRPK1, CACNB2, CACNB3, C19orf26, KLHL15, WDR75 |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for CDK12_CACNB1 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Tgene | CACNB1 | Q02641 | DB00308 | Ibutilide | Voltage-dependent L-type calcium channel subunit beta-1 | small molecule | approved |
| Tgene | CACNB1 | Q02641 | DB00661 | Verapamil | Voltage-dependent L-type calcium channel subunit beta-1 | small molecule | approved |
| Tgene | CACNB1 | Q02641 | DB00898 | Ethanol | Voltage-dependent L-type calcium channel subunit beta-1 | small molecule | approved |
| Tgene | CACNB1 | Q02641 | DB04855 | Dronedarone | Voltage-dependent L-type calcium channel subunit beta-1 | small molecule | approved |
| Tgene | CACNB1 | Q02641 | DB00393 | Nimodipine | Voltage-dependent L-type calcium channel subunit beta-1 | small molecule | approved|investigational |
| Tgene | CACNB1 | Q02641 | DB00653 | Magnesium sulfate | Voltage-dependent L-type calcium channel subunit beta-1 | small molecule | approved|investigational|vet_approved |
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RelatedDiseases for CDK12_CACNB1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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