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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: 40314

FusionGeneSummary for UBA3_RBM6

check button Fusion gene summary
Fusion gene informationFusion gene name: UBA3_RBM6
Fusion gene ID: 40314
HgeneTgene
Gene symbol

UBA3

RBM6

Gene ID

9039

10180

Gene nameubiquitin like modifier activating enzyme 3RNA binding motif protein 6
SynonymsNAE2|UBE1C|hUBA33G2|DEF-3|DEF3|HLC-11|NY-LU-12|g16
Cytomap

3p14.1

3p21.31

Type of geneprotein-codingprotein-coding
DescriptionNEDD8-activating enzyme E1 catalytic subunitNEDD8-activating enzyme E1 subunit 2NEDD8-activating enzyme E1CNedd8-activating enzyme hUba3UBA3, ubiquitin-activating enzyme E1 homologubiquitin-activating enzyme 3ubiquitin-activating enzyme E1C (UBA3 hoRNA-binding protein 6RNA-binding protein DEF-3lung cancer antigen NY-LU-12lung cancer protooncogene 11
Modification date2018052620180519
UniProtAcc

Q8TBC4

P78332

Ensembl transtripts involved in fusion geneENST00000415609, ENST00000349511, 
ENST00000361055, ENST00000540295, 
ENST00000442092, ENST00000266022, 
ENST00000443081, ENST00000539992, 
ENST00000441115, ENST00000422955, 
ENST00000421682, 
Fusion gene scores* DoF score4 X 4 X 4=6410 X 8 X 8=640
# samples 611
** MAII scorelog2(6/64*10)=-0.0931094043914815
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(11/640*10)=-2.5405683813627
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: UBA3 [Title/Abstract] AND RBM6 [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
TCGALDOVTCGA-24-1431-01AUBA3chr3

69110965

-RBM6chr3

50091768

+
* 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-shiftENST00000415609ENST00000442092UBA3chr3

69110965

-RBM6chr3

50091768

+
Frame-shiftENST00000415609ENST00000266022UBA3chr3

69110965

-RBM6chr3

50091768

+
Frame-shiftENST00000415609ENST00000443081UBA3chr3

69110965

-RBM6chr3

50091768

+
5CDS-5UTRENST00000415609ENST00000539992UBA3chr3

69110965

-RBM6chr3

50091768

+
5CDS-3UTRENST00000415609ENST00000441115UBA3chr3

69110965

-RBM6chr3

50091768

+
5CDS-3UTRENST00000415609ENST00000422955UBA3chr3

69110965

-RBM6chr3

50091768

+
5CDS-intronENST00000415609ENST00000421682UBA3chr3

69110965

-RBM6chr3

50091768

+
Frame-shiftENST00000349511ENST00000442092UBA3chr3

69110965

-RBM6chr3

50091768

+
Frame-shiftENST00000349511ENST00000266022UBA3chr3

69110965

-RBM6chr3

50091768

+
Frame-shiftENST00000349511ENST00000443081UBA3chr3

69110965

-RBM6chr3

50091768

+
5CDS-5UTRENST00000349511ENST00000539992UBA3chr3

69110965

-RBM6chr3

50091768

+
5CDS-3UTRENST00000349511ENST00000441115UBA3chr3

69110965

-RBM6chr3

50091768

+
5CDS-3UTRENST00000349511ENST00000422955UBA3chr3

69110965

-RBM6chr3

50091768

+
5CDS-intronENST00000349511ENST00000421682UBA3chr3

69110965

-RBM6chr3

50091768

+
Frame-shiftENST00000361055ENST00000442092UBA3chr3

69110965

-RBM6chr3

50091768

+
Frame-shiftENST00000361055ENST00000266022UBA3chr3

69110965

-RBM6chr3

50091768

+
Frame-shiftENST00000361055ENST00000443081UBA3chr3

69110965

-RBM6chr3

50091768

+
5CDS-5UTRENST00000361055ENST00000539992UBA3chr3

69110965

-RBM6chr3

50091768

+
5CDS-3UTRENST00000361055ENST00000441115UBA3chr3

69110965

-RBM6chr3

50091768

+
5CDS-3UTRENST00000361055ENST00000422955UBA3chr3

69110965

-RBM6chr3

50091768

+
5CDS-intronENST00000361055ENST00000421682UBA3chr3

69110965

-RBM6chr3

50091768

+
Frame-shiftENST00000540295ENST00000442092UBA3chr3

69110965

-RBM6chr3

50091768

+
Frame-shiftENST00000540295ENST00000266022UBA3chr3

69110965

-RBM6chr3

50091768

+
Frame-shiftENST00000540295ENST00000443081UBA3chr3

69110965

-RBM6chr3

50091768

+
5CDS-5UTRENST00000540295ENST00000539992UBA3chr3

69110965

-RBM6chr3

50091768

+
5CDS-3UTRENST00000540295ENST00000441115UBA3chr3

69110965

-RBM6chr3

50091768

+
5CDS-3UTRENST00000540295ENST00000422955UBA3chr3

69110965

-RBM6chr3

50091768

+
5CDS-intronENST00000540295ENST00000421682UBA3chr3

69110965

-RBM6chr3

50091768

+

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FusionProtFeatures for UBA3_RBM6


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
UBA3

Q8TBC4

RBM6

P78332

Catalytic subunit of the dimeric UBA3-NAE1 E1 enzyme. E1activates NEDD8 by first adenylating its C-terminal glycineresidue with ATP, thereafter linking this residue to the sidechain of the catalytic cysteine, yielding a NEDD8-UBA3 thioesterand free AMP. E1 finally transfers NEDD8 to the catalytic cysteineof UBE2M. Down-regulates steroid receptor activity. Necessary forcell cycle progression. {ECO:0000269|PubMed:10207026,ECO:0000269|PubMed:12740388, ECO:0000269|PubMed:9694792}. Specifically binds poly(G) RNA homopolymers in vitro.

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 UBA3_RBM6


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 UBA3_RBM6


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
UBA3UBE2M, CHD3, NAE1, UIMC1, NEDD8, UFC1, WDR61, PRDX2, TXNDC17, UBE2H, TWF1, NUDCD2, VCL, DSTN, NT5DC1, KDM1A, ACAT2, AHCY, CAPN2, DCPS, NSFL1C, PAPSS1, PCYT2, CAMK1D, XPO1, IMPA2, UBA3, CPNE2, UBE2F, APIP, ZBTB44, ATG7, NF2, CCND2RBM6SIRT7, TAF7, SF3B3, ASB12, ASB18, EEF1G, SHMT2, NXF1, FGL1, HNRNPA1, PPP1CB, EMC2, MATR3, PAPD5, MMGT1, NAGK, MITF, CEPT1, ALS2, ZC3H18, PAK7, TRIM25, BRCA1


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 UBA3_RBM6


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 UBA3_RBM6


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