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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:ASPH-SLC9A8 (FusionGDB2 ID:7218)

Fusion Gene Summary for ASPH-SLC9A8

check button Fusion gene summary
Fusion gene informationFusion gene name: ASPH-SLC9A8
Fusion gene ID: 7218
HgeneTgene
Gene symbol

ASPH

SLC9A8

Gene ID

444

23315

Gene nameaspartate beta-hydroxylasesolute carrier family 9 member A8
SynonymsAAH|BAH|CASQ2BP1|FDLAB|HAAH|JCTN|junctinNHE-8|NHE8
Cytomap

8q12.3

20q13.13

Type of geneprotein-codingprotein-coding
Descriptionaspartyl/asparaginyl beta-hydroxylaseA beta H-J-JASP beta-hydroxylasecardiac junctinhumbugjunctatepeptide-aspartate beta-dioxygenasesodium/hydrogen exchanger 8Na(+)/H(+) exchanger 8solute carrier family 9 (sodium/hydrogen exchanger)solute carrier family 9 (sodium/hydrogen exchanger), member 8solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8
Modification date2020031520200313
UniProtAcc

Q12797

.
Ensembl transtripts involved in fusion geneENST00000356457, ENST00000379449, 
ENST00000379454, ENST00000389204, 
ENST00000445642, ENST00000517661, 
ENST00000517847, ENST00000517856, 
ENST00000517903, ENST00000518068, 
ENST00000522603, ENST00000522835, 
ENST00000522919, ENST00000523897, 
ENST00000541428, 		ENST00000361573, 
ENST00000417961, ENST00000490250, 
ENST00000539601, ENST00000541138, 
Fusion gene scores* DoF score20 X 16 X 7=224011 X 14 X 5=770
# samples 2116
** MAII scorelog2(21/2240*10)=-3.41503749927884
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(16/770*10)=-2.2667865406949
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ASPH [Title/Abstract] AND SLC9A8 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointASPH(62509754)-SLC9A8(48508779), # 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
HgeneASPH

GO:0045862

positive regulation of proteolysis

18387192

HgeneASPH

GO:0097202

activation of cysteine-type endopeptidase activity

18387192


check buttonFusion gene breakpoints across ASPH (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 SLC9A8 (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
ChiTaRS5.0N/ACB050648ASPHchr8

62509754

-SLC9A8chr20

48508779

-


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Fusion Gene ORF analysis for ASPH-SLC9A8

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-intronENST00000356457ENST00000361573ASPHchr8

62509754

-SLC9A8chr20

48508779

-
intron-intronENST00000356457ENST00000417961ASPHchr8

62509754

-SLC9A8chr20

48508779

-
intron-intronENST00000356457ENST00000490250ASPHchr8

62509754

-SLC9A8chr20

48508779

-
intron-intronENST00000356457ENST00000539601ASPHchr8

62509754

-SLC9A8chr20

48508779

-
intron-intronENST00000356457ENST00000541138ASPHchr8

62509754

-SLC9A8chr20

48508779

-
intron-intronENST00000379449ENST00000361573ASPHchr8

62509754

-SLC9A8chr20

48508779

-
intron-intronENST00000379449ENST00000417961ASPHchr8

62509754

-SLC9A8chr20

48508779

-
intron-intronENST00000379449ENST00000490250ASPHchr8

62509754

-SLC9A8chr20

48508779

-
intron-intronENST00000379449ENST00000539601ASPHchr8

62509754

-SLC9A8chr20

48508779

-
intron-intronENST00000379449ENST00000541138ASPHchr8

62509754

-SLC9A8chr20

48508779

-
intron-intronENST00000379454ENST00000361573ASPHchr8

62509754

-SLC9A8chr20

48508779

-
intron-intronENST00000379454ENST00000417961ASPHchr8

62509754

-SLC9A8chr20

48508779

-
intron-intronENST00000379454ENST00000490250ASPHchr8

62509754

-SLC9A8chr20

48508779

-
intron-intronENST00000379454ENST00000539601ASPHchr8

62509754

-SLC9A8chr20

48508779

-
intron-intronENST00000379454ENST00000541138ASPHchr8

62509754

-SLC9A8chr20

48508779

-
intron-intronENST00000389204ENST00000361573ASPHchr8

62509754

-SLC9A8chr20

48508779

-
intron-intronENST00000389204ENST00000417961ASPHchr8

62509754

-SLC9A8chr20

48508779

-
intron-intronENST00000389204ENST00000490250ASPHchr8

62509754

-SLC9A8chr20

48508779

-
intron-intronENST00000389204ENST00000539601ASPHchr8

62509754

-SLC9A8chr20

48508779

-
intron-intronENST00000389204ENST00000541138ASPHchr8

62509754

-SLC9A8chr20

48508779

-
intron-intronENST00000445642ENST00000361573ASPHchr8

62509754

-SLC9A8chr20

48508779

-
intron-intronENST00000445642ENST00000417961ASPHchr8

62509754

-SLC9A8chr20

48508779

-
intron-intronENST00000445642ENST00000490250ASPHchr8

62509754

-SLC9A8chr20

48508779

-
intron-intronENST00000445642ENST00000539601ASPHchr8

62509754

-SLC9A8chr20

48508779

-
intron-intronENST00000445642ENST00000541138ASPHchr8

62509754

-SLC9A8chr20

48508779

-
intron-intronENST00000517661ENST00000361573ASPHchr8

62509754

-SLC9A8chr20

48508779

-
intron-intronENST00000517661ENST00000417961ASPHchr8

62509754

-SLC9A8chr20

48508779

-
intron-intronENST00000517661ENST00000490250ASPHchr8

62509754

-SLC9A8chr20

48508779

-
intron-intronENST00000517661ENST00000539601ASPHchr8

62509754

-SLC9A8chr20

48508779

-
intron-intronENST00000517661ENST00000541138ASPHchr8

62509754

-SLC9A8chr20

48508779

-
intron-intronENST00000517847ENST00000361573ASPHchr8

62509754

-SLC9A8chr20

48508779

-
intron-intronENST00000517847ENST00000417961ASPHchr8

62509754

-SLC9A8chr20

48508779

-
intron-intronENST00000517847ENST00000490250ASPHchr8

62509754

-SLC9A8chr20

48508779

-
intron-intronENST00000517847ENST00000539601ASPHchr8

62509754

-SLC9A8chr20

48508779

-
intron-intronENST00000517847ENST00000541138ASPHchr8

62509754

-SLC9A8chr20

48508779

-
intron-intronENST00000517856ENST00000361573ASPHchr8

62509754

-SLC9A8chr20

48508779

-
intron-intronENST00000517856ENST00000417961ASPHchr8

62509754

-SLC9A8chr20

48508779

-
intron-intronENST00000517856ENST00000490250ASPHchr8

62509754

-SLC9A8chr20

48508779

-
intron-intronENST00000517856ENST00000539601ASPHchr8

62509754

-SLC9A8chr20

48508779

-
intron-intronENST00000517856ENST00000541138ASPHchr8

62509754

-SLC9A8chr20

48508779

-
intron-intronENST00000517903ENST00000361573ASPHchr8

62509754

-SLC9A8chr20

48508779

-
intron-intronENST00000517903ENST00000417961ASPHchr8

62509754

-SLC9A8chr20

48508779

-
intron-intronENST00000517903ENST00000490250ASPHchr8

62509754

-SLC9A8chr20

48508779

-
intron-intronENST00000517903ENST00000539601ASPHchr8

62509754

-SLC9A8chr20

48508779

-
intron-intronENST00000517903ENST00000541138ASPHchr8

62509754

-SLC9A8chr20

48508779

-
intron-intronENST00000518068ENST00000361573ASPHchr8

62509754

-SLC9A8chr20

48508779

-
intron-intronENST00000518068ENST00000417961ASPHchr8

62509754

-SLC9A8chr20

48508779

-
intron-intronENST00000518068ENST00000490250ASPHchr8

62509754

-SLC9A8chr20

48508779

-
intron-intronENST00000518068ENST00000539601ASPHchr8

62509754

-SLC9A8chr20

48508779

-
intron-intronENST00000518068ENST00000541138ASPHchr8

62509754

-SLC9A8chr20

48508779

-
intron-intronENST00000522603ENST00000361573ASPHchr8

62509754

-SLC9A8chr20

48508779

-
intron-intronENST00000522603ENST00000417961ASPHchr8

62509754

-SLC9A8chr20

48508779

-
intron-intronENST00000522603ENST00000490250ASPHchr8

62509754

-SLC9A8chr20

48508779

-
intron-intronENST00000522603ENST00000539601ASPHchr8

62509754

-SLC9A8chr20

48508779

-
intron-intronENST00000522603ENST00000541138ASPHchr8

62509754

-SLC9A8chr20

48508779

-
intron-intronENST00000522835ENST00000361573ASPHchr8

62509754

-SLC9A8chr20

48508779

-
intron-intronENST00000522835ENST00000417961ASPHchr8

62509754

-SLC9A8chr20

48508779

-
intron-intronENST00000522835ENST00000490250ASPHchr8

62509754

-SLC9A8chr20

48508779

-
intron-intronENST00000522835ENST00000539601ASPHchr8

62509754

-SLC9A8chr20

48508779

-
intron-intronENST00000522835ENST00000541138ASPHchr8

62509754

-SLC9A8chr20

48508779

-
intron-intronENST00000522919ENST00000361573ASPHchr8

62509754

-SLC9A8chr20

48508779

-
intron-intronENST00000522919ENST00000417961ASPHchr8

62509754

-SLC9A8chr20

48508779

-
intron-intronENST00000522919ENST00000490250ASPHchr8

62509754

-SLC9A8chr20

48508779

-
intron-intronENST00000522919ENST00000539601ASPHchr8

62509754

-SLC9A8chr20

48508779

-
intron-intronENST00000522919ENST00000541138ASPHchr8

62509754

-SLC9A8chr20

48508779

-
intron-intronENST00000523897ENST00000361573ASPHchr8

62509754

-SLC9A8chr20

48508779

-
intron-intronENST00000523897ENST00000417961ASPHchr8

62509754

-SLC9A8chr20

48508779

-
intron-intronENST00000523897ENST00000490250ASPHchr8

62509754

-SLC9A8chr20

48508779

-
intron-intronENST00000523897ENST00000539601ASPHchr8

62509754

-SLC9A8chr20

48508779

-
intron-intronENST00000523897ENST00000541138ASPHchr8

62509754

-SLC9A8chr20

48508779

-
intron-intronENST00000541428ENST00000361573ASPHchr8

62509754

-SLC9A8chr20

48508779

-
intron-intronENST00000541428ENST00000417961ASPHchr8

62509754

-SLC9A8chr20

48508779

-
intron-intronENST00000541428ENST00000490250ASPHchr8

62509754

-SLC9A8chr20

48508779

-
intron-intronENST00000541428ENST00000539601ASPHchr8

62509754

-SLC9A8chr20

48508779

-
intron-intronENST00000541428ENST00000541138ASPHchr8

62509754

-SLC9A8chr20

48508779

-

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 ASPH-SLC9A8


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)

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 ASPH-SLC9A8


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:62509754/:48508779)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

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

Q12797

.
FUNCTION: [Isoform 1]: specifically hydroxylates an Asp or Asn residue in certain epidermal growth factor-like (EGF) domains of a number of proteins. {ECO:0000269|PubMed:11773073}.; FUNCTION: [Isoform 8]: membrane-bound Ca(2+)-sensing protein, which is a structural component of the ER-plasma membrane junctions. Isoform 8 regulates the activity of Ca(+2) released-activated Ca(+2) (CRAC) channels in T-cells. {ECO:0000269|PubMed:22586105}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

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 ASPH-SLC9A8


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 ASPH-SLC9A8


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 ASPH-SLC9A8


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 ASPH-SLC9A8


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