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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 5573

FusionGeneSummary for CASC3_MED1

check button Fusion gene summary
Fusion gene informationFusion gene name: CASC3_MED1
Fusion gene ID: 5573
HgeneTgene
Gene symbol

CASC3

MED1

Gene ID

22794

8930

Gene nameCASC3, exon junction complex subunitmethyl-CpG binding domain 4, DNA glycosylase
SynonymsBTZ|MLN51MED1
Cytomap

17q21.1

3q21.3

Type of geneprotein-codingprotein-coding
Descriptionprotein CASC3MLN 51barentszcancer susceptibility 3cancer susceptibility candidate 3cancer susceptibility candidate gene 3 proteinmetastatic lymph node 51metastatic lymph node gene 51 proteinprotein barentszmethyl-CpG-binding domain protein 43,N(4)-ethenocytosine glycosylaseG/5-fluorouracil mismatch glycosylase with biphasic kineticsG/T mismatch glycosylaseG/U mismatch glycosylasemethyl-CpG binding domain protein 4methyl-CpG-binding endonuclease 1meth
Modification date2018052320180523
UniProtAcc

O15234

Q15648

Ensembl transtripts involved in fusion geneENST00000264645, ENST00000394287, 
ENST00000300651, 
Fusion gene scores* DoF score15 X 7 X 8=8407 X 6 X 5=210
# samples 177
** MAII scorelog2(17/840*10)=-2.30485458152842
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(7/210*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CASC3 [Title/Abstract] AND MED1 [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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID

check button 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVBRCATCGA-E9-A228-01ACASC3chr17

38297860

+MED1chr17

37584043

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
Frame-shiftENST00000264645ENST00000394287CASC3chr17

38297860

+MED1chr17

37584043

-
Frame-shiftENST00000264645ENST00000300651CASC3chr17

38297860

+MED1chr17

37584043

-

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FusionProtFeatures for CASC3_MED1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CASC3

O15234

MED1

Q15648

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 (PubMed:10406464, PubMed:11867769,PubMed:12037571, PubMed:12218053, PubMed:12556447,PubMed:14636573, PubMed:15340084, PubMed:15471764,PubMed:15989967, PubMed:16574658, PubMed:9653119). Acts as acoactivator for GATA1-mediated transcriptional activation duringerythroid differentiation of K562 erythroleukemia cells(PubMed:24245781). {ECO:0000269|PubMed:10406464,ECO:0000269|PubMed:11867769, ECO:0000269|PubMed:12037571,ECO:0000269|PubMed:12218053, ECO:0000269|PubMed:12556447,ECO:0000269|PubMed:14636573, ECO:0000269|PubMed:15340084,ECO:0000269|PubMed:15471764, ECO:0000269|PubMed:15989967,ECO:0000269|PubMed:16574658, ECO:0000269|PubMed:24245781,ECO:0000269|PubMed:9653119}.

check buttonRetention 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

download page

.

* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for CASC3_MED1


check button 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_MED1


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
CASC3ELAVL1, 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, RBM3MED1MED10, MED9, MED29, MED19, MED28, MED26, PPARGC1A, NR3C1, YWHAQ, TGS1, TP53, CDK8, VDR, MED1, HNF4A, THRA, THRAP3, MED24, AR, ESR1, ESR2, MED13, MED6, MED16, MED17, MED20, MED14, MED12, MED23, MED27, MED4, MED7, MED8, MED30, MED22, MED31, MED15, MED18, MED11, MED25, POLR2A, MED21, POLR2F, GABPA, GATA1, ATM, POU1F1, GATA2, PARP1, RXRA, TRRAP, PPARG, RARA, SREBF1, KAT2A, SUPT3H, SUPT7L, MYC, CCNC, CDK19, POLR2E, CDK9, ZC3H13, TRIP4, OBFC1, QKI, TADA2A, TRA, NR1H2, KIF1A, BRD4, CTDP1, NCOA6, ELAVL1, MDM2, ZNF281, ZNF326, RALY, SETD7, FBXW7, MED13L, EPAS1, EZH2, BAG3, GJB5, PIN1, POLL, NR1I3, TCL1B, HNRNPC, NTRK1, POLR2G, EMC2, SMEK1, MED12L, RPAP2, POLR2D, BIRC5, PLK1, SPAG5


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for CASC3_MED1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for CASC3_MED1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneMED1C0014175Endometriosis1CTD_human
TgeneMED1C2239176Liver carcinoma1CTD_human
TgeneMED1C4277682Chemical and Drug Induced Liver Injury1CTD_human