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Fusion gene ID: 5574 |
FusionGeneSummary for CASC3_MED24 |
Fusion gene summary |
Fusion gene information | Fusion gene name: CASC3_MED24 | Fusion gene ID: 5574 | Hgene | Tgene | Gene symbol | CASC3 | MED24 | Gene ID | 22794 | 9862 |
Gene name | CASC3, exon junction complex subunit | mediator complex subunit 24 | |
Synonyms | BTZ|MLN51 | ARC100|CRSP100|CRSP4|DRIP100|MED5|THRAP4|TRAP100 | |
Cytomap | 17q21.1 | 17q21.1 | |
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 | mediator of RNA polymerase II transcription subunit 24CRSP complex subunit 4activator-recruited cofactor 100 kDa componentcofactor required for Sp1 transcriptional activation subunit 4cofactor required for Sp1 transcriptional activation, subunit 4, 10 | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | O15234 | O75448 | |
Ensembl transtripts involved in fusion gene | ENST00000264645, | ENST00000394126, ENST00000356271, ENST00000394128, ENST00000394127, ENST00000501516, ENST00000479829, | |
Fusion gene scores | * DoF score | 15 X 7 X 8=840 | 16 X 12 X 6=1152 |
# samples | 17 | 17 | |
** MAII score | log2(17/840*10)=-2.30485458152842 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(17/1152*10)=-2.76053406530461 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: CASC3 [Title/Abstract] AND MED24 [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 |
Tgene | MED24 | GO:0006367 | transcription initiation from RNA polymerase II promoter | 12218053 |
Tgene | MED24 | GO:0030518 | intracellular steroid hormone receptor signaling pathway | 11867769 |
Tgene | MED24 | GO:0030521 | androgen receptor signaling pathway | 12218053 |
Tgene | MED24 | GO:0045893 | positive regulation of transcription, DNA-templated | 10198638 |
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 | LD | BRCA | TCGA-A2-A0YJ-01A | CASC3 | chr17 | 38297860 | + | MED24 | chr17 | 38209888 | - |
* 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 | ENST00000394126 | CASC3 | chr17 | 38297860 | + | MED24 | chr17 | 38209888 | - |
5CDS-5UTR | ENST00000264645 | ENST00000356271 | CASC3 | chr17 | 38297860 | + | MED24 | chr17 | 38209888 | - |
5CDS-5UTR | ENST00000264645 | ENST00000394128 | CASC3 | chr17 | 38297860 | + | MED24 | chr17 | 38209888 | - |
5CDS-5UTR | ENST00000264645 | ENST00000394127 | CASC3 | chr17 | 38297860 | + | MED24 | chr17 | 38209888 | - |
5CDS-intron | ENST00000264645 | ENST00000501516 | CASC3 | chr17 | 38297860 | + | MED24 | chr17 | 38209888 | - |
5CDS-5UTR | ENST00000264645 | ENST00000479829 | CASC3 | chr17 | 38297860 | + | MED24 | chr17 | 38209888 | - |
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FusionProtFeatures for CASC3_MED24 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
CASC3 | MED24 |
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}. | Component of the Mediator complex, a coactivatorinvolved in the regulated transcription of nearly all RNApolymerase II-dependent genes. Mediator functions as a bridge toconvey information from gene-specific regulatory proteins to thebasal RNA polymerase II transcription machinery. Mediator isrecruited to promoters by direct interactions with regulatoryproteins and serves as a scaffold for the assembly of a functionalpreinitiation complex with RNA polymerase II and the generaltranscription factors. {ECO:0000269|PubMed:12218053,ECO:0000269|PubMed:16595664}. |
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 | chr17:38209888 | ENST00000264645 | + | 3 | 14 | 41_46 | 99 | 1130 | Compositional bias | Note=Poly-Gly |
Tgene | >MED24 | chr17:38297860 | chr17:38209888 | ENST00000356271 | - | 0 | 25 | 128_132 | -13 | 977 | Motif | Note=LXXLL motif 1 |
Tgene | >MED24 | chr17:38297860 | chr17:38209888 | ENST00000356271 | - | 0 | 25 | 344_348 | -13 | 977 | Motif | Note=LXXLL motif 2 |
Tgene | >MED24 | chr17:38297860 | chr17:38209888 | ENST00000356271 | - | 0 | 25 | 448_452 | -13 | 977 | Motif | Note=LXXLL motif 3 |
Tgene | >MED24 | chr17:38297860 | chr17:38209888 | ENST00000356271 | - | 0 | 25 | 557_561 | -13 | 977 | Motif | Note=LXXLL motif 4 |
Tgene | >MED24 | chr17:38297860 | chr17:38209888 | ENST00000356271 | - | 0 | 25 | 788_792 | -13 | 977 | Motif | Note=LXXLL motif 5 |
Tgene | >MED24 | chr17:38297860 | chr17:38209888 | ENST00000356271 | - | 0 | 25 | 857_861 | -13 | 977 | Motif | Note=LXXLL motif 6 |
Tgene | >MED24 | chr17:38297860 | chr17:38209888 | ENST00000394127 | - | 0 | 25 | 128_132 | -35 | 977 | Motif | Note=LXXLL motif 1 |
Tgene | >MED24 | chr17:38297860 | chr17:38209888 | ENST00000394127 | - | 0 | 25 | 344_348 | -35 | 977 | Motif | Note=LXXLL motif 2 |
Tgene | >MED24 | chr17:38297860 | chr17:38209888 | ENST00000394127 | - | 0 | 25 | 448_452 | -35 | 977 | Motif | Note=LXXLL motif 3 |
Tgene | >MED24 | chr17:38297860 | chr17:38209888 | ENST00000394127 | - | 0 | 25 | 557_561 | -35 | 977 | Motif | Note=LXXLL motif 4 |
Tgene | >MED24 | chr17:38297860 | chr17:38209888 | ENST00000394127 | - | 0 | 25 | 788_792 | -35 | 977 | Motif | Note=LXXLL motif 5 |
Tgene | >MED24 | chr17:38297860 | chr17:38209888 | ENST00000394127 | - | 0 | 25 | 857_861 | -35 | 977 | Motif | Note=LXXLL motif 6 |
Tgene | >MED24 | chr17:38297860 | chr17:38209888 | ENST00000394128 | - | 0 | 26 | 128_132 | -13 | 990 | Motif | Note=LXXLL motif 1 |
Tgene | >MED24 | chr17:38297860 | chr17:38209888 | ENST00000394128 | - | 0 | 26 | 344_348 | -13 | 990 | Motif | Note=LXXLL motif 2 |
Tgene | >MED24 | chr17:38297860 | chr17:38209888 | ENST00000394128 | - | 0 | 26 | 448_452 | -13 | 990 | Motif | Note=LXXLL motif 3 |
Tgene | >MED24 | chr17:38297860 | chr17:38209888 | ENST00000394128 | - | 0 | 26 | 557_561 | -13 | 990 | Motif | Note=LXXLL motif 4 |
Tgene | >MED24 | chr17:38297860 | chr17:38209888 | ENST00000394128 | - | 0 | 26 | 788_792 | -13 | 990 | Motif | Note=LXXLL motif 5 |
Tgene | >MED24 | chr17:38297860 | chr17:38209888 | ENST00000394128 | - | 0 | 26 | 857_861 | -13 | 990 | Motif | Note=LXXLL motif 6 |
- 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 | chr17:38209888 | ENST00000264645 | + | 3 | 14 | 95_131 | 99 | 1130 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | >CASC3 | chr17:38297860 | chr17:38209888 | ENST00000264645 | + | 3 | 14 | 392_395 | 99 | 1130 | Compositional bias | Note=Poly-Pro |
Hgene | >CASC3 | chr17:38297860 | chr17:38209888 | ENST00000264645 | + | 3 | 14 | 425_428 | 99 | 1130 | Compositional bias | Note=Poly-Pro |
Hgene | >CASC3 | chr17:38297860 | chr17:38209888 | ENST00000264645 | + | 3 | 14 | 643_648 | 99 | 1130 | Compositional bias | Note=Poly-Pro |
Hgene | >CASC3 | chr17:38297860 | chr17:38209888 | ENST00000264645 | + | 3 | 14 | 692_695 | 99 | 1130 | Compositional bias | Note=Poly-Pro |
Hgene | >CASC3 | chr17:38297860 | chr17:38209888 | ENST00000264645 | + | 3 | 14 | 204_210 | 99 | 1130 | Motif | Nuclear localization signal 1 |
Hgene | >CASC3 | chr17:38297860 | chr17:38209888 | ENST00000264645 | + | 3 | 14 | 254_262 | 99 | 1130 | Motif | Nuclear localization signal 2 |
Hgene | >CASC3 | chr17:38297860 | chr17:38209888 | ENST00000264645 | + | 3 | 14 | 462_466 | 99 | 1130 | Motif | Note=Nuclear export signal |
Hgene | >CASC3 | chr17:38297860 | chr17:38209888 | ENST00000264645 | + | 3 | 14 | 137_283 | 99 | 1130 | Region | Note=Sufficient to form the EJC |
Hgene | >CASC3 | chr17:38297860 | chr17:38209888 | ENST00000264645 | + | 3 | 14 | 377_703 | 99 | 1130 | Region | Note=Necessary for localization in cytoplasmic stress granules |
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FusionGeneSequence for CASC3_MED24 |
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 CASC3_MED24 |
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 | MED24 | MED10, MED9, MED29, MED19, MED28, MED26, CDK8, THRA, VDR, PPARA, PPARG, RXRA, MED1, HNF4A, ESR1, ESR2, MED30, BRD4, RPAP2, AR, PARP1, SMAD1, SMAD2, SMAD3, TRRAP, SREBF1, MED12, MED18, ZC3H13, TRIP4, OBFC1, QKI, TRA, MED14, GSK3B, TNFSF11, RPS6KA6, CTDP1, APP, MED13, MED8, MED16, MED17, MED4, MED11, MED21, MED22, PPP6R1, TFIP11, FBXW7, EPAS1, CDK19, MED7, CCNC, NR1I3, TCL1B, MED15, MED20, MED23, MED6, MED25, MED27, KPNB1, XRCC3, EMC2, PPP4R1, ZWINT, KIFAP3, MMGT1, SUCO, LMO2 |
- 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_MED24 |
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_MED24 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |