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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:ITCH-SPHK2 (FusionGDB2 ID:40365)

Fusion Gene Summary for ITCH-SPHK2

check button Fusion gene summary
Fusion gene informationFusion gene name: ITCH-SPHK2
Fusion gene ID: 40365
HgeneTgene
Gene symbol

ITCH

SPHK2

Gene ID

83737

56848

Gene nameitchy E3 ubiquitin protein ligasesphingosine kinase 2
SynonymsADMFD|AIF4|AIP4|NAPP1SK 2|SK-2|SPK 2|SPK-2
Cytomap

20q11.22

19q13.33

Type of geneprotein-codingprotein-coding
DescriptionE3 ubiquitin-protein ligase Itchy homologHECT-type E3 ubiquitin transferase Itchy homologNFE2-associated polypeptide 1atrophin-1 interacting protein 4itchy E3 ubiquitin protein ligase homologsphingosine kinase 2sphingosine kinase type 2
Modification date2020032920200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000262650, ENST00000374864, 
ENST00000483727, ENST00000535650, 
ENST00000245222, ENST00000340932, 
ENST00000443164, ENST00000598088, 
ENST00000599029, ENST00000599033, 
ENST00000599748, ENST00000600537, 
ENST00000601712, 
Fusion gene scores* DoF score27 X 16 X 18=77762 X 2 X 1=4
# samples 442
** MAII scorelog2(44/7776*10)=-4.14345279008112
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(2/4*10)=2.32192809488736
Context

PubMed: ITCH [Title/Abstract] AND SPHK2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointITCH(33042655)-SPHK2(49133662), # 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
HgeneITCH

GO:0006511

ubiquitin-dependent protein catabolic process

15678106

HgeneITCH

GO:0016567

protein ubiquitination

17592138|25631046

HgeneITCH

GO:0035519

protein K29-linked ubiquitination

17028573|18628966

HgeneITCH

GO:0070534

protein K63-linked ubiquitination

18718448|19592251

HgeneITCH

GO:0070936

protein K48-linked ubiquitination

19881509

TgeneSPHK2

GO:0006669

sphinganine-1-phosphate biosynthetic process

10751414|19729656

TgeneSPHK2

GO:0031064

negative regulation of histone deacetylation

19729656

TgeneSPHK2

GO:0043065

positive regulation of apoptotic process

16118219

TgeneSPHK2

GO:0043977

histone H2A-K5 acetylation

19729656

TgeneSPHK2

GO:0043980

histone H2B-K12 acetylation

19729656

TgeneSPHK2

GO:0045815

positive regulation of gene expression, epigenetic

19729656

TgeneSPHK2

GO:1901726

negative regulation of histone deacetylase activity

19729656

TgeneSPHK2

GO:1904628

cellular response to phorbol 13-acetate 12-myristate

17635916

TgeneSPHK2

GO:2000304

positive regulation of ceramide biosynthetic process

16118219

TgeneSPHK2

GO:2000617

positive regulation of histone H3-K9 acetylation

19729656


check buttonFusion gene breakpoints across ITCH (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 SPHK2 (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/ACB049588ITCHchr20

33042655

+SPHK2chr19

49133662

-


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Fusion Gene ORF analysis for ITCH-SPHK2

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-intronENST00000262650ENST00000245222ITCHchr20

33042655

+SPHK2chr19

49133662

-
intron-intronENST00000262650ENST00000340932ITCHchr20

33042655

+SPHK2chr19

49133662

-
intron-intronENST00000262650ENST00000443164ITCHchr20

33042655

+SPHK2chr19

49133662

-
intron-intronENST00000262650ENST00000598088ITCHchr20

33042655

+SPHK2chr19

49133662

-
intron-intronENST00000262650ENST00000599029ITCHchr20

33042655

+SPHK2chr19

49133662

-
intron-intronENST00000262650ENST00000599033ITCHchr20

33042655

+SPHK2chr19

49133662

-
intron-intronENST00000262650ENST00000599748ITCHchr20

33042655

+SPHK2chr19

49133662

-
intron-intronENST00000262650ENST00000600537ITCHchr20

33042655

+SPHK2chr19

49133662

-
intron-intronENST00000262650ENST00000601712ITCHchr20

33042655

+SPHK2chr19

49133662

-
intron-intronENST00000374864ENST00000245222ITCHchr20

33042655

+SPHK2chr19

49133662

-
intron-intronENST00000374864ENST00000340932ITCHchr20

33042655

+SPHK2chr19

49133662

-
intron-intronENST00000374864ENST00000443164ITCHchr20

33042655

+SPHK2chr19

49133662

-
intron-intronENST00000374864ENST00000598088ITCHchr20

33042655

+SPHK2chr19

49133662

-
intron-intronENST00000374864ENST00000599029ITCHchr20

33042655

+SPHK2chr19

49133662

-
intron-intronENST00000374864ENST00000599033ITCHchr20

33042655

+SPHK2chr19

49133662

-
intron-intronENST00000374864ENST00000599748ITCHchr20

33042655

+SPHK2chr19

49133662

-
intron-intronENST00000374864ENST00000600537ITCHchr20

33042655

+SPHK2chr19

49133662

-
intron-intronENST00000374864ENST00000601712ITCHchr20

33042655

+SPHK2chr19

49133662

-
intron-intronENST00000483727ENST00000245222ITCHchr20

33042655

+SPHK2chr19

49133662

-
intron-intronENST00000483727ENST00000340932ITCHchr20

33042655

+SPHK2chr19

49133662

-
intron-intronENST00000483727ENST00000443164ITCHchr20

33042655

+SPHK2chr19

49133662

-
intron-intronENST00000483727ENST00000598088ITCHchr20

33042655

+SPHK2chr19

49133662

-
intron-intronENST00000483727ENST00000599029ITCHchr20

33042655

+SPHK2chr19

49133662

-
intron-intronENST00000483727ENST00000599033ITCHchr20

33042655

+SPHK2chr19

49133662

-
intron-intronENST00000483727ENST00000599748ITCHchr20

33042655

+SPHK2chr19

49133662

-
intron-intronENST00000483727ENST00000600537ITCHchr20

33042655

+SPHK2chr19

49133662

-
intron-intronENST00000483727ENST00000601712ITCHchr20

33042655

+SPHK2chr19

49133662

-
intron-intronENST00000535650ENST00000245222ITCHchr20

33042655

+SPHK2chr19

49133662

-
intron-intronENST00000535650ENST00000340932ITCHchr20

33042655

+SPHK2chr19

49133662

-
intron-intronENST00000535650ENST00000443164ITCHchr20

33042655

+SPHK2chr19

49133662

-
intron-intronENST00000535650ENST00000598088ITCHchr20

33042655

+SPHK2chr19

49133662

-
intron-intronENST00000535650ENST00000599029ITCHchr20

33042655

+SPHK2chr19

49133662

-
intron-intronENST00000535650ENST00000599033ITCHchr20

33042655

+SPHK2chr19

49133662

-
intron-intronENST00000535650ENST00000599748ITCHchr20

33042655

+SPHK2chr19

49133662

-
intron-intronENST00000535650ENST00000600537ITCHchr20

33042655

+SPHK2chr19

49133662

-
intron-intronENST00000535650ENST00000601712ITCHchr20

33042655

+SPHK2chr19

49133662

-

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 ITCH-SPHK2


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 ITCH-SPHK2


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/:33042655/:49133662)
- 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
..
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}.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 ITCH-SPHK2


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 ITCH-SPHK2


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 ITCH-SPHK2


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 ITCH-SPHK2


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