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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: 30766

FusionGeneSummary for RBM47_EXOC1

check button Fusion gene summary
Fusion gene informationFusion gene name: RBM47_EXOC1
Fusion gene ID: 30766
HgeneTgene
Gene symbol

RBM47

EXOC1

Gene ID

54502

55763

Gene nameRNA binding motif protein 47exocyst complex component 1
SynonymsNET18BM-102|SEC3|SEC3L1|SEC3P
Cytomap

4p14

4q12

Type of geneprotein-codingprotein-coding
DescriptionRNA-binding protein 47exocyst complex component 1SEC3-like 1exocyst complex component Sec3
Modification date2018051920180523
UniProtAcc

A0AV96

Q9NV70

Ensembl transtripts involved in fusion geneENST00000319592, ENST00000381793, 
ENST00000381795, ENST00000295971, 
ENST00000514014, ENST00000515809, 
ENST00000381295, ENST00000346134, 
ENST00000349598, 
Fusion gene scores* DoF score9 X 9 X 7=5672 X 2 X 2=8
# samples 132
** MAII scorelog2(13/567*10)=-2.12483711191377
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(2/8*10)=1.32192809488736
Context

PubMed: RBM47 [Title/Abstract] AND EXOC1 [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
TgeneEXOC1

GO:0048015

phosphatidylinositol-mediated signaling

25591774


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
TCGARVOVTCGA-36-1571-01ARBM47chr4

40546439

-EXOC1chr4

56744083

+
* 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
5UTR-3CDSENST00000319592ENST00000381295RBM47chr4

40546439

-EXOC1chr4

56744083

+
5UTR-3CDSENST00000319592ENST00000346134RBM47chr4

40546439

-EXOC1chr4

56744083

+
5UTR-3CDSENST00000319592ENST00000349598RBM47chr4

40546439

-EXOC1chr4

56744083

+
intron-3CDSENST00000381793ENST00000381295RBM47chr4

40546439

-EXOC1chr4

56744083

+
intron-3CDSENST00000381793ENST00000346134RBM47chr4

40546439

-EXOC1chr4

56744083

+
intron-3CDSENST00000381793ENST00000349598RBM47chr4

40546439

-EXOC1chr4

56744083

+
intron-3CDSENST00000381795ENST00000381295RBM47chr4

40546439

-EXOC1chr4

56744083

+
intron-3CDSENST00000381795ENST00000346134RBM47chr4

40546439

-EXOC1chr4

56744083

+
intron-3CDSENST00000381795ENST00000349598RBM47chr4

40546439

-EXOC1chr4

56744083

+
5UTR-3CDSENST00000295971ENST00000381295RBM47chr4

40546439

-EXOC1chr4

56744083

+
5UTR-3CDSENST00000295971ENST00000346134RBM47chr4

40546439

-EXOC1chr4

56744083

+
5UTR-3CDSENST00000295971ENST00000349598RBM47chr4

40546439

-EXOC1chr4

56744083

+
5UTR-3CDSENST00000514014ENST00000381295RBM47chr4

40546439

-EXOC1chr4

56744083

+
5UTR-3CDSENST00000514014ENST00000346134RBM47chr4

40546439

-EXOC1chr4

56744083

+
5UTR-3CDSENST00000514014ENST00000349598RBM47chr4

40546439

-EXOC1chr4

56744083

+
intron-3CDSENST00000515809ENST00000381295RBM47chr4

40546439

-EXOC1chr4

56744083

+
intron-3CDSENST00000515809ENST00000346134RBM47chr4

40546439

-EXOC1chr4

56744083

+
intron-3CDSENST00000515809ENST00000349598RBM47chr4

40546439

-EXOC1chr4

56744083

+

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FusionProtFeatures for RBM47_EXOC1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RBM47

A0AV96

EXOC1

Q9NV70

Component of the exocyst complex involved in the dockingof exocytic vesicles with fusion sites on the plasma membrane. (Microbial infection) Has an antiviral effect againstflaviviruses by affecting viral RNA transcription and translationthrough the sequestration of elongation factor 1-alpha (EEF1A1).This results in decreased viral RNA synthesis and decreased viralprotein translation. {ECO:0000269|PubMed:19889084}.

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 RBM47_EXOC1


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 RBM47_EXOC1


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
RBM47ELAVL1, C1orf94, HSFY1, RNF2, ATM, TRIM25EXOC1CDC5L, DISC1, TRAF3IP1, TRIO, DST, LUC7L2, EXOC4, SYBU, SPTAN1, SFR1, CCSER2, CCDC93, CCDC88A, KDM1A, NUF2, MACF1, SRGAP2, GOLGA4, SH3BP5, CEP295, KIAA1551, KIF5A, TRIM9, KANSL1, COLEC12, IQCB1, KIAA0226, RB1CC1, ATG14, SNAP29, BSG, CD274, THAP7, KIR2DS2, CA14, DTNBP1, TMEFF1, SCN2B, EXOC2, EXOC3, NTRK1, MED4, SNW1, EXOC6, NCKAP5L, TUFT1, GRIPAP1, CLOCK, FKBP15, PTRF, BLOC1S4, IKBIP, RABEP2, RABGAP1L, NDC80, PHF21A, IL1R2, EXOC6B, EXOC8, VPS53, RABGEF1, CCDC6, CCDC132, TRIM32, EXOC5, KXD1, GIT2, POTEE, ARHGEF7, SNAPIN, VPS51, BLOC1S2, EXOC7, USP4, THAP11, TSKS, JUN, TSSC1, TNFRSF8, CCHCR1, SIKE1, GIT1, KIF5B, RABEP1, NUP54, TNIP1, GOLGA5, COG6, KIF5C, STRN3, STRN, APLNR, PCNT, CCDC122, EDNRB, ZWINT, VTI1B, TMED1, RALB, MTNR1A


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 RBM47_EXOC1


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 RBM47_EXOC1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneRBM47C3495559Juvenile arthritis1CTD_human