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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:SLC35A1-EBAG9 (FusionGDB2 ID:82351)

Fusion Gene Summary for SLC35A1-EBAG9

check button Fusion gene summary
Fusion gene informationFusion gene name: SLC35A1-EBAG9
Fusion gene ID: 82351
HgeneTgene
Gene symbol

SLC35A1

EBAG9

Gene ID

10559

9166

Gene namesolute carrier family 35 member A1estrogen receptor binding site associated antigen 9
SynonymsCDG2F|CMPST|CST|hCSTEB9|PDAF
Cytomap

6q15

8q23.2

Type of geneprotein-codingprotein-coding
DescriptionCMP-sialic acid transporterCMP-SA-TrCMP-Sia-Trmutated CMP-sialic acid transporter A1solute carrier family 35 (CMP-sialic acid transporter), member 1solute carrier family 35 (CMP-sialic acid transporter), member A1solute carrier family 35 (UDP-galactreceptor-binding cancer antigen expressed on SiSo cellscancer-associated surface antigen RCAS1estrogen receptor-binding fragment-associated gene 9 protein
Modification date2020031320200313
UniProtAcc.

O00559

Ensembl transtripts involved in fusion geneENST00000464978, ENST00000369556, 
ENST00000544441, ENST00000369552, 
ENST00000369557, 
ENST00000395785, 
ENST00000529502, ENST00000337573, 
ENST00000531677, 
Fusion gene scores* DoF score4 X 3 X 3=369 X 7 X 6=378
# samples 310
** MAII scorelog2(3/36*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(10/378*10)=-1.91838623444635
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SLC35A1 [Title/Abstract] AND EBAG9 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointSLC35A1(88216166)-EBAG9(110576667), # samples:1
Anticipated loss of major functional domain due to fusion event.SLC35A1-EBAG9 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
SLC35A1-EBAG9 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
* 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 buttonFusion gene breakpoints across SLC35A1 (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 EBAG9 (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
ChimerDB4Non-Cancer2397NSLC35A1chr6

88216166

+EBAG9chr8

110576667

+


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Fusion Gene ORF analysis for SLC35A1-EBAG9

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-3CDSENST00000464978ENST00000395785SLC35A1chr6

88216166

+EBAG9chr8

110576667

+
intron-intronENST00000464978ENST00000529502SLC35A1chr6

88216166

+EBAG9chr8

110576667

+
intron-intronENST00000464978ENST00000337573SLC35A1chr6

88216166

+EBAG9chr8

110576667

+
intron-intronENST00000464978ENST00000531677SLC35A1chr6

88216166

+EBAG9chr8

110576667

+
Frame-shiftENST00000369556ENST00000395785SLC35A1chr6

88216166

+EBAG9chr8

110576667

+
5CDS-intronENST00000369556ENST00000529502SLC35A1chr6

88216166

+EBAG9chr8

110576667

+
5CDS-intronENST00000369556ENST00000337573SLC35A1chr6

88216166

+EBAG9chr8

110576667

+
5CDS-intronENST00000369556ENST00000531677SLC35A1chr6

88216166

+EBAG9chr8

110576667

+
Frame-shiftENST00000544441ENST00000395785SLC35A1chr6

88216166

+EBAG9chr8

110576667

+
5CDS-intronENST00000544441ENST00000529502SLC35A1chr6

88216166

+EBAG9chr8

110576667

+
5CDS-intronENST00000544441ENST00000337573SLC35A1chr6

88216166

+EBAG9chr8

110576667

+
5CDS-intronENST00000544441ENST00000531677SLC35A1chr6

88216166

+EBAG9chr8

110576667

+
Frame-shiftENST00000369552ENST00000395785SLC35A1chr6

88216166

+EBAG9chr8

110576667

+
5CDS-intronENST00000369552ENST00000529502SLC35A1chr6

88216166

+EBAG9chr8

110576667

+
5CDS-intronENST00000369552ENST00000337573SLC35A1chr6

88216166

+EBAG9chr8

110576667

+
5CDS-intronENST00000369552ENST00000531677SLC35A1chr6

88216166

+EBAG9chr8

110576667

+
intron-3CDSENST00000369557ENST00000395785SLC35A1chr6

88216166

+EBAG9chr8

110576667

+
intron-intronENST00000369557ENST00000529502SLC35A1chr6

88216166

+EBAG9chr8

110576667

+
intron-intronENST00000369557ENST00000337573SLC35A1chr6

88216166

+EBAG9chr8

110576667

+
intron-intronENST00000369557ENST00000531677SLC35A1chr6

88216166

+EBAG9chr8

110576667

+

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 SLC35A1-EBAG9


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)
SLC35A1chr688216166+EBAG9chr8110576671+0.37904880.6209512
SLC35A1chr688216166+EBAG9chr8110576671+0.37904880.6209512

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 SLC35A1-EBAG9


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
.EBAG9

O00559

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.FUNCTION: May participate in suppression of cell proliferation and induces apoptotic cell death through activation of interleukin-1-beta converting enzyme (ICE)-like proteases. {ECO:0000269|PubMed:12054692, ECO:0000269|PubMed:12138241, ECO:0000269|PubMed:12672804}.

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 SLC35A1-EBAG9


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 SLC35A1-EBAG9


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 SLC35A1-EBAG9


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 SLC35A1-EBAG9


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSLC35A1C1970344Congenital Disorder Of Glycosylation, Type IIF3CTD_human;GENOMICS_ENGLAND
HgeneSLC35A1C0019080Hemorrhage1GENOMICS_ENGLAND
HgeneSLC35A1C0036572Seizures1GENOMICS_ENGLAND
HgeneSLC35A1C2751260Macrothrombocytopenia1GENOMICS_ENGLAND
HgeneSLC35A1C4317224Congenital disorder of glycosylation type 1q1GENOMICS_ENGLAND