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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:SEPW1-EHD2 (FusionGDB2 ID:80577)

Fusion Gene Summary for SEPW1-EHD2

check button Fusion gene summary
Fusion gene informationFusion gene name: SEPW1-EHD2
Fusion gene ID: 80577
HgeneTgene
Gene symbol

SEPW1

EHD2

Gene ID

6415

30846

Gene nameselenoprotein WEH domain containing 2
SynonymsSEPW1|selWPAST2
Cytomap

19q13.33

19q13.33

Type of geneprotein-codingprotein-coding
Descriptionselenoprotein Wselenoprotein W, 1EH domain-containing protein 2PAST homolog 2
Modification date2020032020200315
UniProtAcc.

Q9NZN4

Ensembl transtripts involved in fusion geneENST00000601419, ENST00000509570, 
ENST00000593892, ENST00000595615, 
ENST00000601048, 		ENST00000263277, 
ENST00000538399, ENST00000540884, 
Fusion gene scores* DoF score2 X 2 X 2=86 X 9 X 3=162
# samples 38
** MAII scorelog2(3/8*10)=1.90689059560852log2(8/162*10)=-1.01792190799726
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SEPW1 [Title/Abstract] AND EHD2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointSEPW1(48282071)-EHD2(48244137), # samples:1
SEPW1(48282071)-EHD2(48244138), # samples:1
SEPW1(48282071)-EHD2(48219815), # samples:1
SEPW1(48284006)-EHD2(48219815), # 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

check buttonFusion gene breakpoints across SEPW1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across EHD2 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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
ChimerDB4HNSCTCGA-BA-6872SEPW1chr19

48282071

+EHD2chr19

48244137

+
ChimerDB4HNSCTCGA-BA-6872SEPW1chr19

48282071

+EHD2chr19

48244138

+
ChimerDB4HNSCTCGA-CV-6953SEPW1chr19

48282071

+EHD2chr19

48219815

+
ChimerDB4HNSCTCGA-CV-6953SEPW1chr19

48284006

+EHD2chr19

48219815

+


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Fusion Gene ORF analysis for SEPW1-EHD2

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
3UTR-3CDSENST00000601419ENST00000263277SEPW1chr19

48282071

+EHD2chr19

48244137

+
3UTR-3CDSENST00000601419ENST00000263277SEPW1chr19

48282071

+EHD2chr19

48244138

+
3UTR-3CDSENST00000601419ENST00000538399SEPW1chr19

48282071

+EHD2chr19

48244137

+
3UTR-3CDSENST00000601419ENST00000538399SEPW1chr19

48282071

+EHD2chr19

48244138

+
3UTR-3UTRENST00000601419ENST00000540884SEPW1chr19

48282071

+EHD2chr19

48244137

+
3UTR-3UTRENST00000601419ENST00000540884SEPW1chr19

48282071

+EHD2chr19

48244138

+
3UTR-5UTRENST00000601419ENST00000263277SEPW1chr19

48282071

+EHD2chr19

48219815

+
3UTR-intronENST00000601419ENST00000538399SEPW1chr19

48282071

+EHD2chr19

48219815

+
3UTR-intronENST00000601419ENST00000540884SEPW1chr19

48282071

+EHD2chr19

48219815

+
5CDS-3UTRENST00000509570ENST00000540884SEPW1chr19

48282071

+EHD2chr19

48244137

+
5CDS-3UTRENST00000509570ENST00000540884SEPW1chr19

48282071

+EHD2chr19

48244138

+
5CDS-3UTRENST00000593892ENST00000540884SEPW1chr19

48282071

+EHD2chr19

48244137

+
5CDS-3UTRENST00000593892ENST00000540884SEPW1chr19

48282071

+EHD2chr19

48244138

+
5CDS-3UTRENST00000595615ENST00000540884SEPW1chr19

48282071

+EHD2chr19

48244137

+
5CDS-3UTRENST00000595615ENST00000540884SEPW1chr19

48282071

+EHD2chr19

48244138

+
5CDS-3UTRENST00000601048ENST00000540884SEPW1chr19

48282071

+EHD2chr19

48244137

+
5CDS-3UTRENST00000601048ENST00000540884SEPW1chr19

48282071

+EHD2chr19

48244138

+
5CDS-5UTRENST00000509570ENST00000263277SEPW1chr19

48282071

+EHD2chr19

48219815

+
5CDS-5UTRENST00000509570ENST00000263277SEPW1chr19

48284006

+EHD2chr19

48219815

+
5CDS-5UTRENST00000593892ENST00000263277SEPW1chr19

48282071

+EHD2chr19

48219815

+
5CDS-5UTRENST00000593892ENST00000263277SEPW1chr19

48284006

+EHD2chr19

48219815

+
5CDS-5UTRENST00000595615ENST00000263277SEPW1chr19

48282071

+EHD2chr19

48219815

+
5CDS-5UTRENST00000595615ENST00000263277SEPW1chr19

48284006

+EHD2chr19

48219815

+
5CDS-5UTRENST00000601048ENST00000263277SEPW1chr19

48282071

+EHD2chr19

48219815

+
5CDS-5UTRENST00000601048ENST00000263277SEPW1chr19

48284006

+EHD2chr19

48219815

+
5CDS-intronENST00000509570ENST00000538399SEPW1chr19

48282071

+EHD2chr19

48219815

+
5CDS-intronENST00000509570ENST00000538399SEPW1chr19

48284006

+EHD2chr19

48219815

+
5CDS-intronENST00000509570ENST00000540884SEPW1chr19

48282071

+EHD2chr19

48219815

+
5CDS-intronENST00000509570ENST00000540884SEPW1chr19

48284006

+EHD2chr19

48219815

+
5CDS-intronENST00000593892ENST00000538399SEPW1chr19

48282071

+EHD2chr19

48219815

+
5CDS-intronENST00000593892ENST00000538399SEPW1chr19

48284006

+EHD2chr19

48219815

+
5CDS-intronENST00000593892ENST00000540884SEPW1chr19

48282071

+EHD2chr19

48219815

+
5CDS-intronENST00000593892ENST00000540884SEPW1chr19

48284006

+EHD2chr19

48219815

+
5CDS-intronENST00000595615ENST00000538399SEPW1chr19

48282071

+EHD2chr19

48219815

+
5CDS-intronENST00000595615ENST00000538399SEPW1chr19

48284006

+EHD2chr19

48219815

+
5CDS-intronENST00000595615ENST00000540884SEPW1chr19

48282071

+EHD2chr19

48219815

+
5CDS-intronENST00000595615ENST00000540884SEPW1chr19

48284006

+EHD2chr19

48219815

+
5CDS-intronENST00000601048ENST00000538399SEPW1chr19

48282071

+EHD2chr19

48219815

+
5CDS-intronENST00000601048ENST00000538399SEPW1chr19

48284006

+EHD2chr19

48219815

+
5CDS-intronENST00000601048ENST00000540884SEPW1chr19

48282071

+EHD2chr19

48219815

+
5CDS-intronENST00000601048ENST00000540884SEPW1chr19

48284006

+EHD2chr19

48219815

+
In-frameENST00000509570ENST00000263277SEPW1chr19

48282071

+EHD2chr19

48244137

+
In-frameENST00000509570ENST00000263277SEPW1chr19

48282071

+EHD2chr19

48244138

+
In-frameENST00000509570ENST00000538399SEPW1chr19

48282071

+EHD2chr19

48244137

+
In-frameENST00000509570ENST00000538399SEPW1chr19

48282071

+EHD2chr19

48244138

+
In-frameENST00000593892ENST00000263277SEPW1chr19

48282071

+EHD2chr19

48244137

+
In-frameENST00000593892ENST00000263277SEPW1chr19

48282071

+EHD2chr19

48244138

+
In-frameENST00000593892ENST00000538399SEPW1chr19

48282071

+EHD2chr19

48244137

+
In-frameENST00000593892ENST00000538399SEPW1chr19

48282071

+EHD2chr19

48244138

+
In-frameENST00000595615ENST00000263277SEPW1chr19

48282071

+EHD2chr19

48244137

+
In-frameENST00000595615ENST00000263277SEPW1chr19

48282071

+EHD2chr19

48244138

+
In-frameENST00000595615ENST00000538399SEPW1chr19

48282071

+EHD2chr19

48244137

+
In-frameENST00000595615ENST00000538399SEPW1chr19

48282071

+EHD2chr19

48244138

+
In-frameENST00000601048ENST00000263277SEPW1chr19

48282071

+EHD2chr19

48244137

+
In-frameENST00000601048ENST00000263277SEPW1chr19

48282071

+EHD2chr19

48244138

+
In-frameENST00000601048ENST00000538399SEPW1chr19

48282071

+EHD2chr19

48244137

+
In-frameENST00000601048ENST00000538399SEPW1chr19

48282071

+EHD2chr19

48244138

+
intron-5UTRENST00000601419ENST00000263277SEPW1chr19

48284006

+EHD2chr19

48219815

+
intron-intronENST00000601419ENST00000538399SEPW1chr19

48284006

+EHD2chr19

48219815

+
intron-intronENST00000601419ENST00000540884SEPW1chr19

48284006

+EHD2chr19

48219815

+

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 SEPW1-EHD2


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)
SEPW1chr1948282071+EHD2chr1948219814+4.74E-060.99999523
SEPW1chr1948284006+EHD2chr1948219814+1.35E-070.9999999
SEPW1chr1948282071+EHD2chr1948244137+2.12E-121
SEPW1chr1948282071+EHD2chr1948219814+4.74E-060.99999523
SEPW1chr1948284006+EHD2chr1948219814+1.35E-070.9999999
SEPW1chr1948282071+EHD2chr1948244137+2.12E-121

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.
genomic feature

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.
genomic feature of top 1%

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Fusion Protein Features for SEPW1-EHD2


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/chr19:48282071/chr19:48244137)
- 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
.EHD2

Q9NZN4

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: ATP- and membrane-binding protein that controls membrane reorganization/tubulation upon ATP hydrolysis (By similarity). Plays a role in membrane trafficking between the plasma membrane and endosomes (PubMed:17233914). Important for the internalization of GLUT4. Required for fusion of myoblasts to skeletal muscle myotubes. Required for normal translocation of FER1L5 to the plasma membrane (By similarity). Regulates the equilibrium between cell surface-associated and cell surface-dissociated caveolae by constraining caveolae at the cell membrane (PubMed:25588833). {ECO:0000250|UniProtKB:Q8BH64, ECO:0000269|PubMed:17233914, ECO:0000269|PubMed:25588833}.

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
TgeneEHD2chr19:48282071chr19:48244137ENST0000026327746494_505360544.0Calcium bindingOntology_term=ECO:0000250,ECO:0000255
TgeneEHD2chr19:48282071chr19:48244138ENST0000026327746494_505360544.0Calcium bindingOntology_term=ECO:0000250,ECO:0000255
TgeneEHD2chr19:48282071chr19:48244137ENST0000026327746449_537360544.0DomainEH
TgeneEHD2chr19:48282071chr19:48244137ENST0000026327746481_516360544.0DomainEF-hand
TgeneEHD2chr19:48282071chr19:48244138ENST0000026327746449_537360544.0DomainEH
TgeneEHD2chr19:48282071chr19:48244138ENST0000026327746481_516360544.0DomainEF-hand

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneEHD2chr19:48282071chr19:48244137ENST000002632774655_286360544.0DomainDynamin-type G
TgeneEHD2chr19:48282071chr19:48244138ENST000002632774655_286360544.0DomainDynamin-type G
TgeneEHD2chr19:48282071chr19:48244137ENST0000026327746120_122360544.0MotifKPF loop%3B caveolar targeting
TgeneEHD2chr19:48282071chr19:48244138ENST0000026327746120_122360544.0MotifKPF loop%3B caveolar targeting
TgeneEHD2chr19:48282071chr19:48244137ENST0000026327746153_156360544.0RegionG3 motif
TgeneEHD2chr19:48282071chr19:48244137ENST0000026327746219_222360544.0RegionG4 motif
TgeneEHD2chr19:48282071chr19:48244137ENST0000026327746243_243360544.0RegionG5 motif
TgeneEHD2chr19:48282071chr19:48244137ENST0000026327746320_340360544.0RegionMediates membrane-binding
TgeneEHD2chr19:48282071chr19:48244137ENST000002632774665_72360544.0RegionG1 motif
TgeneEHD2chr19:48282071chr19:48244137ENST000002632774691_92360544.0RegionG2 motif
TgeneEHD2chr19:48282071chr19:48244138ENST0000026327746153_156360544.0RegionG3 motif
TgeneEHD2chr19:48282071chr19:48244138ENST0000026327746219_222360544.0RegionG4 motif
TgeneEHD2chr19:48282071chr19:48244138ENST0000026327746243_243360544.0RegionG5 motif
TgeneEHD2chr19:48282071chr19:48244138ENST0000026327746320_340360544.0RegionMediates membrane-binding
TgeneEHD2chr19:48282071chr19:48244138ENST000002632774665_72360544.0RegionG1 motif
TgeneEHD2chr19:48282071chr19:48244138ENST000002632774691_92360544.0RegionG2 motif


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Fusion Gene Sequence for SEPW1-EHD2


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 SEPW1-EHD2


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 SEPW1-EHD2


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 SEPW1-EHD2


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