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Fusion gene ID: 5568 |
FusionGeneSummary for CASC3_CDK12 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CASC3_CDK12 | Fusion gene ID: 5568 | Hgene | Tgene | Gene symbol | CASC3 | CDK12 | Gene ID | 22794 | 51755 |
| Gene name | CASC3, exon junction complex subunit | cyclin dependent kinase 12 | |
| Synonyms | BTZ|MLN51 | CRK7|CRKR|CRKRS | |
| Cytomap | 17q21.1 | 17q12 | |
| Type of gene | protein-coding | protein-coding | |
| Description | protein CASC3MLN 51barentszcancer susceptibility 3cancer susceptibility candidate 3cancer susceptibility candidate gene 3 proteinmetastatic lymph node 51metastatic lymph node gene 51 proteinprotein barentsz | cyclin-dependent kinase 12CDC2-related protein kinase 7Cdc2-related kinase, arginine/serine-richcell division cycle 2-related protein kinase 7cell division protein kinase 12 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | O15234 | Q9NYV4 | |
| Ensembl transtripts involved in fusion gene | ENST00000264645, | ENST00000430627, ENST00000447079, ENST00000559545, | |
| Fusion gene scores | * DoF score | 15 X 7 X 8=840 | 27 X 15 X 12=4860 |
| # samples | 17 | 31 | |
| ** MAII score | log2(17/840*10)=-2.30485458152842 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(31/4860*10)=-3.97061619321891 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: CASC3 [Title/Abstract] AND CDK12 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | Kinase involved fusion gene, inframe and retained kinase domain. | ||
| * 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 |
| Tgene | 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 | STAD | TCGA-BR-4366-01A | CASC3 | chr17 | 38297860 | + | CDK12 | chr17 | 37686884 | + |
| * 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 |
| In-frame | ENST00000264645 | ENST00000430627 | CASC3 | chr17 | 38297860 | + | CDK12 | chr17 | 37686884 | + |
| Frame-shift | ENST00000264645 | ENST00000447079 | CASC3 | chr17 | 38297860 | + | CDK12 | chr17 | 37686884 | + |
| 5CDS-intron | ENST00000264645 | ENST00000559545 | CASC3 | chr17 | 38297860 | + | CDK12 | chr17 | 37686884 | + |
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FusionProtFeatures for CASC3_CDK12 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CASC3 | CDK12 |
| Core component of the splicing-dependent multiproteinexon junction complex (EJC) deposited at splice junctions onmRNAs. The EJC is a dynamic structure consisting of core proteinsand several peripheral nuclear and cytoplasmic associated factorsthat join the complex only transiently either during EJC assemblyor during subsequent mRNA metabolism. The EJC marks the positionof the exon-exon junction in the mature mRNA for the geneexpression machinery and the core components remain bound tospliced mRNAs throughout all stages of mRNA metabolism therebyinfluencing downstream processes including nuclear mRNA export,subcellular mRNA localization, translation efficiency andnonsense-mediated mRNA decay (NMD). Stimulates the ATPase and RNA-helicase activities of EIF4A3. Plays a role in the stress responseby participating in cytoplasmic stress granules assembly and byfavoring cell recovery following stress. Component of thedendritic ribonucleoprotein particles (RNPs) in hippocampalneurons. May play a role in mRNA transport. Binds spliced mRNA insequence-independent manner, 20-24 nucleotides upstream of mRNAexon-exon junctions. Binds poly(G) and poly(U) RNA homopolymer.{ECO:0000269|PubMed:17375189, ECO:0000269|PubMed:17652158}. | 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}. |
| 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 |
| Hgene | CASC3 | chr17:38297860 | chr17:37686884 | ENST00000264645 | + | 3 | 14 | 41_46 | 99 | 1130 | Compositional bias | Note=Poly-Gly |
| Tgene | >CDK12 | chr17:38297860 | chr17:37686884 | ENST00000430627 | + | 12 | 14 | 1266_1280 | 1253 | 1482 | Compositional bias | Note=Poly-Pro |
| Tgene | >CDK12 | chr17:38297860 | chr17:37686884 | ENST00000447079 | + | 0 | 14 | 1266_1280 | -11 | 1491 | Compositional bias | Note=Poly-Pro |
| Tgene | >CDK12 | chr17:38297860 | chr17:37686884 | ENST00000447079 | + | 0 | 14 | 407_413 | -11 | 1491 | Compositional bias | Note=Poly-Ala |
| Tgene | >CDK12 | chr17:38297860 | chr17:37686884 | ENST00000447079 | + | 0 | 14 | 535_540 | -11 | 1491 | Compositional bias | Note=Poly-Pro |
| Tgene | >CDK12 | chr17:38297860 | chr17:37686884 | ENST00000447079 | + | 0 | 14 | 727_1020 | -11 | 1491 | Domain | Protein kinase |
| Tgene | >CDK12 | chr17:38297860 | chr17:37686884 | ENST00000447079 | + | 0 | 14 | 733_741 | -11 | 1491 | Nucleotide binding | Note=ATP |
| Tgene | >CDK12 | chr17:38297860 | chr17:37686884 | ENST00000447079 | + | 0 | 14 | 814_819 | -11 | 1491 | Nucleotide binding | Note=ATP |
| - 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 |
| Hgene | >CASC3 | chr17:38297860 | chr17:37686884 | ENST00000264645 | + | 3 | 14 | 95_131 | 99 | 1130 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | >CASC3 | chr17:38297860 | chr17:37686884 | ENST00000264645 | + | 3 | 14 | 392_395 | 99 | 1130 | Compositional bias | Note=Poly-Pro |
| Hgene | >CASC3 | chr17:38297860 | chr17:37686884 | ENST00000264645 | + | 3 | 14 | 425_428 | 99 | 1130 | Compositional bias | Note=Poly-Pro |
| Hgene | >CASC3 | chr17:38297860 | chr17:37686884 | ENST00000264645 | + | 3 | 14 | 643_648 | 99 | 1130 | Compositional bias | Note=Poly-Pro |
| Hgene | >CASC3 | chr17:38297860 | chr17:37686884 | ENST00000264645 | + | 3 | 14 | 692_695 | 99 | 1130 | Compositional bias | Note=Poly-Pro |
| Hgene | >CASC3 | chr17:38297860 | chr17:37686884 | ENST00000264645 | + | 3 | 14 | 204_210 | 99 | 1130 | Motif | Nuclear localization signal 1 |
| Hgene | >CASC3 | chr17:38297860 | chr17:37686884 | ENST00000264645 | + | 3 | 14 | 254_262 | 99 | 1130 | Motif | Nuclear localization signal 2 |
| Hgene | >CASC3 | chr17:38297860 | chr17:37686884 | ENST00000264645 | + | 3 | 14 | 462_466 | 99 | 1130 | Motif | Note=Nuclear export signal |
| Hgene | >CASC3 | chr17:38297860 | chr17:37686884 | ENST00000264645 | + | 3 | 14 | 137_283 | 99 | 1130 | Region | Note=Sufficient to form the EJC |
| Hgene | >CASC3 | chr17:38297860 | chr17:37686884 | ENST00000264645 | + | 3 | 14 | 377_703 | 99 | 1130 | Region | Note=Necessary for localization in cytoplasmic stress granules |
| Tgene | CDK12 | chr17:38297860 | chr17:37686884 | ENST00000430627 | + | 12 | 14 | 407_413 | 1253 | 1482 | Compositional bias | Note=Poly-Ala |
| Tgene | CDK12 | chr17:38297860 | chr17:37686884 | ENST00000430627 | + | 12 | 14 | 535_540 | 1253 | 1482 | Compositional bias | Note=Poly-Pro |
| Tgene | CDK12 | chr17:38297860 | chr17:37686884 | ENST00000430627 | + | 12 | 14 | 727_1020 | 1253 | 1482 | Domain | Protein kinase |
| Tgene | CDK12 | chr17:38297860 | chr17:37686884 | ENST00000430627 | + | 12 | 14 | 733_741 | 1253 | 1482 | Nucleotide binding | Note=ATP |
| Tgene | CDK12 | chr17:38297860 | chr17:37686884 | ENST00000430627 | + | 12 | 14 | 814_819 | 1253 | 1482 | Nucleotide binding | Note=ATP |
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FusionGeneSequence for CASC3_CDK12 |
| 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. |
| >In-frame_CASC3_ENST00000264645_chr17_38297860_+_CDK12_ENST00000430627_chr17_37686884_+_327aa MADRRRQRASQDTEDEESGASGSDSGGSPLRGGGSCSGSAGGGGSGSLPSQRGGRTGALHLRRVESGGAKSAEESECESEDGIEGDAVLS DYESAEDSERRGPLSPPDLHRRHLHPLWLKAIFPAPPRSXTQPXQPPCCNFYPSLKQSLLATCHMSTRPXDQWSTPPDPVQTGLMETLMG LKQGSVPLTLMNETLVQPXQNPWSRPWXRTGPSQALXATLGSPAVTRAQGQCSFQGTRTSVLPGSPXRYTRWSGNHSXRLREAAILWYMQ |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_CASC3_ENST00000264645_chr17_38297860_+_CDK12_ENST00000430627_chr17_37686884_+_983nt ATGGCGGACCGGCGGCGGCAGCGCGCTTCGCAAGACACCGAGGACGAGGAATCTGGTGCTTCGGGCTCCGACAGCGGCGGCTCCCCGTTG CGGGGAGGCGGGAGCTGCAGCGGTAGCGCCGGAGGCGGCGGCAGCGGCTCTCTGCCTTCACAGCGCGGAGGCCGAACCGGGGCCCTTCAT CTGCGGCGGGTGGAGAGCGGGGGCGCCAAGAGTGCTGAGGAGTCGGAGTGTGAGAGTGAAGATGGCATTGAAGGTGATGCTGTTCTCTCG GATTATGAAAGTGCAGAAGACTCGGAAAGAAGAGGCCCCCTGAGCCCCCCGGACCTCCACCGCCGCCACCTCCACCCCCTCTGGTTGAAG GCGATCTTTCCAGCGCCCCCCAGGAGTTGAACCCAGCCGTGACAGCCGCCTTGCTGCAACTTTTATCCCAGCCTGAAGCAGAGCCTCCTG GCCACCTGCCACATGAGCACCAGGCCTTGAGACCAATGGAGTACTCCACCCGACCCCGTCCAAACAGGACTTATGGAAACACTGATGGGC CTGAAACAGGGTTCAGTGCCATTGACACTGATGAACGAAACTCTGGTCCAGCCTTGACAGAATCCTTGGTCCAGACCCTGGTGAAGAACA GGACCTTCTCAGGCTCTCTGAGCCACCTTGGGGAGTCCAGCAGTTACCAGGGCACAGGGTCAGTGCAGTTTCCAGGGGACCAGGACCTCC GTTTTGCCAGGGTCCCCTTAGCGTTACACCCGGTGGTCGGGCAACCATTCCTGAAGGCTGAGGGAAGCAGCAATTCTGTGGTACATGCAG AGACCAAATTGCAAAACTATGGGGAGCTGGGGCCAGGAACCACTGGGGCCAGCAGCTCAGGAGCAGGCCTTCACTGGGGGGGCCCAACTC |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_CASC3_ENST00000264645_chr17_38297860_+_CDK12_ENST00000430627_chr17_37686884_+_2370nt CACACACACACACACACACACACACACCCCAACACACACACACACACCCCAACACACACACACACACACACACACACACACACACACACA CACACACACACACACACAGCGGGATGGCCGAGCGCCGCACGCGTAGCACGCCGGGACTAGCTATCCAGCCTCCCAGCAGCCTCTGCGACG GGCGCGGTGCGTAAGTACCTCGCCGGTGGTGGCCGTTCTCCGTAAGATGGCGGACCGGCGGCGGCAGCGCGCTTCGCAAGACACCGAGGA CGAGGAATCTGGTGCTTCGGGCTCCGACAGCGGCGGCTCCCCGTTGCGGGGAGGCGGGAGCTGCAGCGGTAGCGCCGGAGGCGGCGGCAG CGGCTCTCTGCCTTCACAGCGCGGAGGCCGAACCGGGGCCCTTCATCTGCGGCGGGTGGAGAGCGGGGGCGCCAAGAGTGCTGAGGAGTC GGAGTGTGAGAGTGAAGATGGCATTGAAGGTGATGCTGTTCTCTCGGATTATGAAAGTGCAGAAGACTCGGAAAGAAGAGGCCCCCTGAG CCCCCCGGACCTCCACCGCCGCCACCTCCACCCCCTCTGGTTGAAGGCGATCTTTCCAGCGCCCCCCAGGAGTTGAACCCAGCCGTGACA GCCGCCTTGCTGCAACTTTTATCCCAGCCTGAAGCAGAGCCTCCTGGCCACCTGCCACATGAGCACCAGGCCTTGAGACCAATGGAGTAC TCCACCCGACCCCGTCCAAACAGGACTTATGGAAACACTGATGGGCCTGAAACAGGGTTCAGTGCCATTGACACTGATGAACGAAACTCT GGTCCAGCCTTGACAGAATCCTTGGTCCAGACCCTGGTGAAGAACAGGACCTTCTCAGGCTCTCTGAGCCACCTTGGGGAGTCCAGCAGT TACCAGGGCACAGGGTCAGTGCAGTTTCCAGGGGACCAGGACCTCCGTTTTGCCAGGGTCCCCTTAGCGTTACACCCGGTGGTCGGGCAA CCATTCCTGAAGGCTGAGGGAAGCAGCAATTCTGTGGTACATGCAGAGACCAAATTGCAAAACTATGGGGAGCTGGGGCCAGGAACCACT GGGGCCAGCAGCTCAGGAGCAGGCCTTCACTGGGGGGGCCCAACTCAGTCTTCTGCTTATGGAAAACTCTATCGGGGGCCTACAAGAGTC CCACCAAGAGGGGGAAGAGGGAGAGGAGTTCCTTACTAACCCAGAGACTTCAGTGTCCTGAAAGATTCCTTTCCTATCCATCCTTCCATC CAGTTCTCTGAATCTTTAATGAAATCATTTGCCAGAGCGAGGTAATCATCTGCATTTGGCTACTGCAAAGCTGTCCGTTGTATTCCTTGC TCACTTGCTACTAGCAGGCGACTTACGAAATAATGATGTTGGCACCAGTTCCCCCTGGATGGGCTATAGCCAGAACATTTACTTCAACTC TACCTTAGTAGATACAAGTAGAGAATATGGAGAGGATCATTACATTGAAAAGTAAATGTTTTATTAGTTCATTGCCTGCACTTACTGATC GGAAGAGAGAAAGAACAGTTTCAGTATTGAGATGGCTCAGGAGAGGCTCTTTGATTTTTAAAGTTTTGGGGTGGGGGATTGTGTGTGGTT TCTTTCTTTTGAATTTTAATTTAGGTGTTTTGGGTTTTTTTCCTTTAAAGAGAATAGTGTTCACAAAATTTGAGCTGCTCTTTGGCTTTT GCTATAAGGGAAACAGAGTGGCCTGGCTGATTTGAATAAATGTTTCTTTCCTCTCCACCATCTCACATTTTGCTTTTAAGTGAACACTTT TTCCCCATTGAGCATCTTGAACATACTTTTTTTCCAAATAAATTACTCATCCTTAAAGTTTACTCCACTTTGACAAAAGATACGCCCTTC TCCCTGCACATAAAGCAGGTTGTAGAACGTGGCATTCTTGGGCAAGTAGGTAGACTTTACCCAGTCTCTTTCCTTTTTTGCTGATGTGTG CTCTCTCTCTCTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTGTCTCGCTTGCTCGCTCTCGCTGTTTCTCTCTCT TTGAGGCATTTGTTTGGAAAAAATCGTTGAGATGCCCAAGAACCTGGGATAATTCTTTACTTTTTTTGAAATAAAGGAAAGGAAATTCAG ACTCTTACATTGTTCTCTGTAACTCTTCAATTCTAAAATGTTTTGTTTTTTAAACCATGTTCTGATGGGGAAGTTGATTTGTAAGTGTGG ACAGCTTGGACATTGCTGCTGAGCTGTGGTTAGAGATGATGCCTCCATTCCTAGAGGGCTAATAACAGCATTTAGCATATTGTTTACACA |
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FusionGenePPI for CASC3_CDK12 |
| 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 |
| CASC3 | ELAVL1, CAND1, EIF4A3, MAGOH, CDK6, GRB2, NXF1, BMI1, VTI1B, TRA2A, PRR11, LUC7L, LUC7L2, SNIP1, UPF3B, AKT1, APC, CASP8, CDKN2A, ESR2, FGFR4, NBN, PHB, PTPN1, PTPRJ, EWSR1, XPO1, LLGL2, RBM8A, MED12, CHST15, KDM1B, UPF3A, WIBG, PNN, ELAVL2, GSPT2, U2AF2, CDX1, APOBEC3D, C11orf57, CLK2, PRDM5, CELF5, RBM3 | 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 |
| - 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 CASC3_CDK12 |
| 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 |
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RelatedDiseases for CASC3_CDK12 |
| 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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