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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: 11843

FusionGeneSummary for EPPK1_ZC3H3

check button Fusion gene summary
Fusion gene informationFusion gene name: EPPK1_ZC3H3
Fusion gene ID: 11843
HgeneTgene
Gene symbol

EPPK1

ZC3H3

Gene ID

83481

23144

Gene nameepiplakin 1zinc finger CCCH-type containing 3
SynonymsEPIPL|EPIPL1ZC3HDC3
Cytomap

8q24.3

8q24.3

Type of geneprotein-codingprotein-coding
Descriptionepiplakin450 kDa epidermal antigenepidermal autoantigen 450Kzinc finger CCCH domain-containing protein 3smad-interacting CPSF-like factorzinc finger CCCH-type domain containing 3
Modification date2018052320180523
UniProtAcc

Q8IXZ2

Ensembl transtripts involved in fusion geneENST00000525985, ENST00000262577, 
Fusion gene scores* DoF score1 X 1 X 1=14 X 4 X 3=48
# samples 15
** MAII scorelog2(1/1*10)=3.32192809488736log2(5/48*10)=0.0588936890535686
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: EPPK1 [Title/Abstract] AND ZC3H3 [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
HgeneEPPK1

GO:0045109

intermediate filament organization

23398049


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
TCGALDOVTCGA-29-1698-01AEPPK1chr8

144940235

-ZC3H3chr8

144590069

-
* 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
intron-3CDSENST00000525985ENST00000262577EPPK1chr8

144940235

-ZC3H3chr8

144590069

-

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FusionProtFeatures for EPPK1_ZC3H3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
EPPK1

ZC3H3

Q8IXZ2

Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}. Required for the export of polyadenylated mRNAs from thenucleus (PubMed:19364924). Enhances ACVR1B-induced SMAD-dependenttranscription. Binds to single-stranded DNA but not to double-stranded DNA in vitro. Involved in RNA cleavage (By similarity).{ECO:0000250|UniProtKB:Q8CHP0, ECO:0000269|PubMed:19364924}.

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 EPPK1_ZC3H3


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 EPPK1_ZC3H3


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
EPPK1TRAF6, ARF6, GSTK1, TSC22D1, PHB2, RASGRF2, NME2, GRB2, SRRM2, UCHL5, SIRT7, ISG15, CUL3, SRSF9, SAFB, TSR1, DYNC1H1, DDX3X, CORO1B, MRPL12, RTN4, ESR1, CDKN1A, CEP250, TUBGCP3, VCP, CUL7, OBSL1, CCDC8, FGL1, DDX19B, ZSCAN20, RBM24, HNRNPA1, UBR2, CEP120, CNTROB, RPGRIP1L, POC5, YWHAH, SKI, MCM2, SNW1, CDC5L, TBC1D22B, CDK15, FCF1, ZSCAN12, VIM, G3BP1ZC3H3HECW2, MOV10, NXF1, CTDSP2, LARP7, RPL26L1, NIP7, NOP10, RPF1, RBM28, POP1, DDX24, MRPS9, FTSJ3, MRPS26, DDX21, ANKRD17, ANKHD1, ANKHD1-EIF4EBP3, PTCD1, ZNF70, UPF1, PTCD3, RPL10A, DKC1, PABPC4, PABPC3, YARS2, ELAVL2, HIST1H1C, HIST1H1A, REXO4, TRUB2, NOP16, RBM19, RPS3A, MTERF3, MRPL32, KRI1, WHSC1, RSL1D1, MRPS10, DAP3, MRPL1, SURF6, GTPBP4, LARP1, LARP1B, FARS2, FASTKD2, NOP2, MRPS31, MRPS5, ERAL1, MRPS22, GNL2, RPL36AL, GLTSCR2, MRPL45, LLPH, RAB3IP, RBM34, MRPS25, NGRN, BRIX1, ZC3H8, MRPL9, MRPS2, PAK1IP1, MRPS33, RRS1, MRPS11, RPL15, KIAA0020, HERC5, RPL32, MRPS24, PAPD5, NMNAT1, ZCCHC9, MRPS35, DDX31, RPL13A, MRPL19, MRPS14, RPF2, AHCYL2, AHCYL1, MRPL21, MRPL13, MRPL17, PURA, PPAN-P2RY11, NSA2, MRPL30, MRPL14, MALSU1, HIST2H2AB, MRPL34, MRPS21, LTBR, APP, CTBP2, KIF3C, LGALS3BP, LLGL2, PTTG1, THOC1, SETD1B, ELMSAN1, ZFC3H1, MZT1, IKZF5, CACNG5, C11orf57, TMEM102, SSSCA1, APOBEC3D, SRSF1


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 EPPK1_ZC3H3


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 EPPK1_ZC3H3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneEPPK1C0263454Chloracne1CTD_human