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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:UBE2J2-SKI (FusionGDB2 ID:95487)

Fusion Gene Summary for UBE2J2-SKI

check button Fusion gene summary
Fusion gene informationFusion gene name: UBE2J2-SKI
Fusion gene ID: 95487
HgeneTgene
Gene symbol

UBE2J2

SKI

Gene ID

118424

6497

Gene nameubiquitin conjugating enzyme E2 J2SKI proto-oncogene
SynonymsNCUBE-2|NCUBE2|PRO2121SGS|SKV
Cytomap

1p36.33

1p36.33-p36.32

Type of geneprotein-codingprotein-coding
Descriptionubiquitin-conjugating enzyme E2 J2E2 ubiquitin-conjugating enzyme J2non-canonical ubiquitin-conjugating enzyme 2ubiquitin conjugating enzyme 6ubiquitin-conjugating enzyme E2, J2 (UBC6 homolog, yeast)yeast UBC6 homologski oncogeneproto-oncogene c-Skiski oncoproteinv-ski avian sarcoma viral oncogene homolog
Modification date2020031320200329
UniProtAcc.

SKIDA1,C10orf140

Ensembl transtripts involved in fusion geneENST00000347370, ENST00000349431, 
ENST00000339385, ENST00000348298, 
ENST00000400929, ENST00000360466, 
ENST00000400930, ENST00000491779, 
ENST00000378536, ENST00000478223, 
Fusion gene scores* DoF score7 X 8 X 3=16817 X 5 X 6=510
# samples 917
** MAII scorelog2(9/168*10)=-0.900464326449086
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(17/510*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: UBE2J2 [Title/Abstract] AND SKI [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointUBE2J2(1209046)-SKI(2234417), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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
TgeneSKI

GO:0000122

negative regulation of transcription by RNA polymerase II

17469184

TgeneSKI

GO:0008285

negative regulation of cell proliferation

11430826

TgeneSKI

GO:0014902

myotube differentiation

19008232

TgeneSKI

GO:0030512

negative regulation of transforming growth factor beta receptor signaling pathway

17469184

TgeneSKI

GO:0030514

negative regulation of BMP signaling pathway

14699069

TgeneSKI

GO:0032926

negative regulation of activin receptor signaling pathway

14699069

TgeneSKI

GO:0043388

positive regulation of DNA binding

15107821

TgeneSKI

GO:0045668

negative regulation of osteoblast differentiation

14699069

TgeneSKI

GO:0060395

SMAD protein signal transduction

12874272


check buttonFusion gene breakpoints across UBE2J2 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across SKI (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4STADTCGA-HU-A4GN-01AUBE2J2chr1

1209046

-SKIchr1

2234417

+


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Fusion Gene ORF analysis for UBE2J2-SKI

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-3CDSENST00000347370ENST00000378536UBE2J2chr1

1209046

-SKIchr1

2234417

+
5UTR-3UTRENST00000347370ENST00000478223UBE2J2chr1

1209046

-SKIchr1

2234417

+
5UTR-3CDSENST00000349431ENST00000378536UBE2J2chr1

1209046

-SKIchr1

2234417

+
5UTR-3UTRENST00000349431ENST00000478223UBE2J2chr1

1209046

-SKIchr1

2234417

+
intron-3CDSENST00000339385ENST00000378536UBE2J2chr1

1209046

-SKIchr1

2234417

+
intron-3UTRENST00000339385ENST00000478223UBE2J2chr1

1209046

-SKIchr1

2234417

+
5UTR-3CDSENST00000348298ENST00000378536UBE2J2chr1

1209046

-SKIchr1

2234417

+
5UTR-3UTRENST00000348298ENST00000478223UBE2J2chr1

1209046

-SKIchr1

2234417

+
5UTR-3CDSENST00000400929ENST00000378536UBE2J2chr1

1209046

-SKIchr1

2234417

+
5UTR-3UTRENST00000400929ENST00000478223UBE2J2chr1

1209046

-SKIchr1

2234417

+
intron-3CDSENST00000360466ENST00000378536UBE2J2chr1

1209046

-SKIchr1

2234417

+
intron-3UTRENST00000360466ENST00000478223UBE2J2chr1

1209046

-SKIchr1

2234417

+
5UTR-3CDSENST00000400930ENST00000378536UBE2J2chr1

1209046

-SKIchr1

2234417

+
5UTR-3UTRENST00000400930ENST00000478223UBE2J2chr1

1209046

-SKIchr1

2234417

+
intron-3CDSENST00000491779ENST00000378536UBE2J2chr1

1209046

-SKIchr1

2234417

+
intron-3UTRENST00000491779ENST00000478223UBE2J2chr1

1209046

-SKIchr1

2234417

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for UBE2J2-SKI


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)
UBE2J2chr11209045-SKIchr12234416+0.0003152710.9996847
UBE2J2chr11209045-SKIchr12234416+0.0003152710.9996847

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for UBE2J2-SKI


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

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

SKIDA1,C10orf140

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.908

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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Fusion Gene Sequence for UBE2J2-SKI


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for UBE2J2-SKI


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


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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Related Drugs for UBE2J2-SKI


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for UBE2J2-SKI


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneSKIC1321551Shprintzen-Goldberg syndrome4CLINGEN;CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneSKIC1842870Chromosome 1p36 Deletion Syndrome2ORPHANET
TgeneSKIC0003486Aortic Aneurysm1CTD_human
TgeneSKIC0011999Diastematomyelia1CTD_human
TgeneSKIC0027794Neural Tube Defects1CTD_human
TgeneSKIC0027806Neurenteric Cyst1CTD_human
TgeneSKIC0080218Tethered Cord Syndrome1CTD_human
TgeneSKIC0151491Congenital musculoskeletal anomalies1CTD_human
TgeneSKIC0152234Iniencephaly1CTD_human
TgeneSKIC0152426Craniorachischisis1CTD_human
TgeneSKIC0266453Exencephaly1CTD_human
TgeneSKIC0344479Spinal Cord Myelodysplasia1CTD_human
TgeneSKIC0376634Craniofacial Abnormalities1CTD_human
TgeneSKIC0702169Acrania1CTD_human