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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:EDEM1-ITPR1 (FusionGDB2 ID:HG9695TG3708)

Fusion Gene Summary for EDEM1-ITPR1

check button Fusion gene summary
Fusion gene informationFusion gene name: EDEM1-ITPR1
Fusion gene ID: hg9695tg3708
HgeneTgene
Gene symbol

EDEM1

ITPR1

Gene ID

9695

3708

Gene nameER degradation enhancing alpha-mannosidase like protein 1inositol 1,4,5-trisphosphate receptor type 1
SynonymsEDEMACV|CLA4|INSP3R1|IP3R|IP3R1|PPP1R94|SCA15|SCA16|SCA29
Cytomap('EDEM1')('ITPR1')

3p26.1

3p26.1

Type of geneprotein-codingprotein-coding
DescriptionER degradation-enhancing alpha-mannosidase-like protein 1ER degradation enhancer, mannosidase alpha-like 1ER degradation-enhancing alpha-mannosidase-like 1inositol 1,4,5-trisphosphate receptor type 1IP3 receptorIP3R 1inositol 1,4,5-triphosphate receptor, type 1protein phosphatase 1, regulatory subunit 94type 1 InsP3 receptortype 1 inositol 1,4,5-trisphosphate receptor
Modification date2020031320200327
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000256497, ENST00000445686, 
Fusion gene scores* DoF score4 X 4 X 4=649 X 13 X 8=936
# samples 416
** MAII scorelog2(4/64*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(16/936*10)=-2.54843662469604
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: EDEM1 [Title/Abstract] AND ITPR1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointEDEM1(5236966)-ITPR1(4887823), # samples:3
Anticipated loss of major functional domain due to fusion event.EDEM1-ITPR1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
EDEM1-ITPR1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
EDEM1-ITPR1 seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
EDEM1-ITPR1 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target 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
TgeneITPR1

GO:0001666

response to hypoxia

19120137

TgeneITPR1

GO:0050849

negative regulation of calcium-mediated signaling

16793548


check buttonFusion gene breakpoints across EDEM1 (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 ITPR1 (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
* 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
ChimerDB4UCECTCGA-AP-A5FX-01AEDEM1chr3

5236966

-ITPR1chr3

4887823

+
ChimerDB4UCECTCGA-AP-A5FX-01AEDEM1chr3

5236966

+ITPR1chr3

4887823

+


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Fusion Gene ORF analysis for EDEM1-ITPR1

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
5CDS-3UTRENST00000256497ENST00000463980EDEM1chr3

5236966

+ITPR1chr3

4887823

+
5UTR-3CDSENST00000445686ENST00000302640EDEM1chr3

5236966

+ITPR1chr3

4887823

+
5UTR-3CDSENST00000445686ENST00000354582EDEM1chr3

5236966

+ITPR1chr3

4887823

+
5UTR-3CDSENST00000445686ENST00000357086EDEM1chr3

5236966

+ITPR1chr3

4887823

+
5UTR-3CDSENST00000445686ENST00000423119EDEM1chr3

5236966

+ITPR1chr3

4887823

+
5UTR-3CDSENST00000445686ENST00000443694EDEM1chr3

5236966

+ITPR1chr3

4887823

+
5UTR-3CDSENST00000445686ENST00000456211EDEM1chr3

5236966

+ITPR1chr3

4887823

+
5UTR-3CDSENST00000445686ENST00000544951EDEM1chr3

5236966

+ITPR1chr3

4887823

+
5UTR-3UTRENST00000445686ENST00000463980EDEM1chr3

5236966

+ITPR1chr3

4887823

+
Frame-shiftENST00000256497ENST00000302640EDEM1chr3

5236966

+ITPR1chr3

4887823

+
Frame-shiftENST00000256497ENST00000354582EDEM1chr3

5236966

+ITPR1chr3

4887823

+
Frame-shiftENST00000256497ENST00000423119EDEM1chr3

5236966

+ITPR1chr3

4887823

+
Frame-shiftENST00000256497ENST00000544951EDEM1chr3

5236966

+ITPR1chr3

4887823

+
In-frameENST00000256497ENST00000357086EDEM1chr3

5236966

+ITPR1chr3

4887823

+
In-frameENST00000256497ENST00000443694EDEM1chr3

5236966

+ITPR1chr3

4887823

+
In-frameENST00000256497ENST00000456211EDEM1chr3

5236966

+ITPR1chr3

4887823

+

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)
ENST00000256497EDEM1chr35236966+ENST00000456211ITPR1chr34887823+2179715133801222
ENST00000256497EDEM1chr35236966+ENST00000357086ITPR1chr34887823+2179715133801222
ENST00000256497EDEM1chr35236966+ENST00000443694ITPR1chr34887823+1972715133801222

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
ENST00000256497ENST00000456211EDEM1chr35236966+ITPR1chr34887823+0.0155243610.9844757
ENST00000256497ENST00000357086EDEM1chr35236966+ITPR1chr34887823+0.0155243610.9844757
ENST00000256497ENST00000443694EDEM1chr35236966+ITPR1chr34887823+0.0237537980.9762462

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Fusion Genomic Features for EDEM1-ITPR1


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)
EDEM1chr35236966+ITPR1chr34887822+0.0004736760.9995264
EDEM1chr35236966+ITPR1chr34887822+0.0004736760.9995264

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 EDEM1-ITPR1


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/chr3:5236966/chr3:4887823)
- 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
HgeneEDEM1chr3:5236966chr3:4887823ENST00000256497+2121_4194658.0Topological domainCytoplasmic
HgeneEDEM1chr3:5236966chr3:4887823ENST00000256497+2125_25194658.0TransmembraneHelical%3B Signal-anchor for type II membrane protein

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneEDEM1chr3:5236966chr3:4887823ENST00000256497+21226_657194658.0Topological domainLumenal
TgeneITPR1chr3:5236966chr3:4887823ENST000003026405961112_16627152744.0DomainMIR 1
TgeneITPR1chr3:5236966chr3:4887823ENST000003026405961173_22327152744.0DomainMIR 2
TgeneITPR1chr3:5236966chr3:4887823ENST000003026405961231_28727152744.0DomainMIR 3
TgeneITPR1chr3:5236966chr3:4887823ENST000003026405961294_37327152744.0DomainMIR 4
TgeneITPR1chr3:5236966chr3:4887823ENST000003026405961379_43527152744.0DomainMIR 5
TgeneITPR1chr3:5236966chr3:4887823ENST000003570865759112_16626822711.0DomainMIR 1
TgeneITPR1chr3:5236966chr3:4887823ENST000003570865759173_22326822711.0DomainMIR 2
TgeneITPR1chr3:5236966chr3:4887823ENST000003570865759231_28726822711.0DomainMIR 3
TgeneITPR1chr3:5236966chr3:4887823ENST000003570865759294_37326822711.0DomainMIR 4
TgeneITPR1chr3:5236966chr3:4887823ENST000003570865759379_43526822711.0DomainMIR 5
TgeneITPR1chr3:5236966chr3:4887823ENST000004436945759112_16627152744.0DomainMIR 1
TgeneITPR1chr3:5236966chr3:4887823ENST000004436945759173_22327152744.0DomainMIR 2
TgeneITPR1chr3:5236966chr3:4887823ENST000004436945759231_28727152744.0DomainMIR 3
TgeneITPR1chr3:5236966chr3:4887823ENST000004436945759294_37327152744.0DomainMIR 4
TgeneITPR1chr3:5236966chr3:4887823ENST000004436945759379_43527152744.0DomainMIR 5
TgeneITPR1chr3:5236966chr3:4887823ENST000004562115658112_16626672696.0DomainMIR 1
TgeneITPR1chr3:5236966chr3:4887823ENST000004562115658173_22326672696.0DomainMIR 2
TgeneITPR1chr3:5236966chr3:4887823ENST000004562115658231_28726672696.0DomainMIR 3
TgeneITPR1chr3:5236966chr3:4887823ENST000004562115658294_37326672696.0DomainMIR 4
TgeneITPR1chr3:5236966chr3:4887823ENST000004562115658379_43526672696.0DomainMIR 5
TgeneITPR1chr3:5236966chr3:4887823ENST000003026405961265_26927152744.0RegionInositol 1%2C4%2C5-trisphosphate binding
TgeneITPR1chr3:5236966chr3:4887823ENST000003026405961508_51127152744.0RegionInositol 1%2C4%2C5-trisphosphate binding
TgeneITPR1chr3:5236966chr3:4887823ENST000003026405961567_56927152744.0RegionInositol 1%2C4%2C5-trisphosphate binding
TgeneITPR1chr3:5236966chr3:4887823ENST000003570865759265_26926822711.0RegionInositol 1%2C4%2C5-trisphosphate binding
TgeneITPR1chr3:5236966chr3:4887823ENST000003570865759508_51126822711.0RegionInositol 1%2C4%2C5-trisphosphate binding
TgeneITPR1chr3:5236966chr3:4887823ENST000003570865759567_56926822711.0RegionInositol 1%2C4%2C5-trisphosphate binding
TgeneITPR1chr3:5236966chr3:4887823ENST000004436945759265_26927152744.0RegionInositol 1%2C4%2C5-trisphosphate binding
TgeneITPR1chr3:5236966chr3:4887823ENST000004436945759508_51127152744.0RegionInositol 1%2C4%2C5-trisphosphate binding
TgeneITPR1chr3:5236966chr3:4887823ENST000004436945759567_56927152744.0RegionInositol 1%2C4%2C5-trisphosphate binding
TgeneITPR1chr3:5236966chr3:4887823ENST000004562115658265_26926672696.0RegionInositol 1%2C4%2C5-trisphosphate binding
TgeneITPR1chr3:5236966chr3:4887823ENST000004562115658508_51126672696.0RegionInositol 1%2C4%2C5-trisphosphate binding
TgeneITPR1chr3:5236966chr3:4887823ENST000004562115658567_56926672696.0RegionInositol 1%2C4%2C5-trisphosphate binding
TgeneITPR1chr3:5236966chr3:4887823ENST0000030264059611_228227152744.0Topological domainCytoplasmic
TgeneITPR1chr3:5236966chr3:4887823ENST0000030264059612304_231427152744.0Topological domainLumenal
TgeneITPR1chr3:5236966chr3:4887823ENST0000030264059612336_236127152744.0Topological domainCytoplasmic
TgeneITPR1chr3:5236966chr3:4887823ENST0000030264059612383_240527152744.0Topological domainLumenal
TgeneITPR1chr3:5236966chr3:4887823ENST0000030264059612427_244827152744.0Topological domainCytoplasmic
TgeneITPR1chr3:5236966chr3:4887823ENST0000030264059612470_257727152744.0Topological domainLumenal
TgeneITPR1chr3:5236966chr3:4887823ENST0000030264059612599_275827152744.0Topological domainCytoplasmic
TgeneITPR1chr3:5236966chr3:4887823ENST0000035708657591_228226822711.0Topological domainCytoplasmic
TgeneITPR1chr3:5236966chr3:4887823ENST0000035708657592304_231426822711.0Topological domainLumenal
TgeneITPR1chr3:5236966chr3:4887823ENST0000035708657592336_236126822711.0Topological domainCytoplasmic
TgeneITPR1chr3:5236966chr3:4887823ENST0000035708657592383_240526822711.0Topological domainLumenal
TgeneITPR1chr3:5236966chr3:4887823ENST0000035708657592427_244826822711.0Topological domainCytoplasmic
TgeneITPR1chr3:5236966chr3:4887823ENST0000035708657592470_257726822711.0Topological domainLumenal
TgeneITPR1chr3:5236966chr3:4887823ENST0000035708657592599_275826822711.0Topological domainCytoplasmic
TgeneITPR1chr3:5236966chr3:4887823ENST0000044369457591_228227152744.0Topological domainCytoplasmic
TgeneITPR1chr3:5236966chr3:4887823ENST0000044369457592304_231427152744.0Topological domainLumenal
TgeneITPR1chr3:5236966chr3:4887823ENST0000044369457592336_236127152744.0Topological domainCytoplasmic
TgeneITPR1chr3:5236966chr3:4887823ENST0000044369457592383_240527152744.0Topological domainLumenal
TgeneITPR1chr3:5236966chr3:4887823ENST0000044369457592427_244827152744.0Topological domainCytoplasmic
TgeneITPR1chr3:5236966chr3:4887823ENST0000044369457592470_257727152744.0Topological domainLumenal
TgeneITPR1chr3:5236966chr3:4887823ENST0000044369457592599_275827152744.0Topological domainCytoplasmic
TgeneITPR1chr3:5236966chr3:4887823ENST0000045621156581_228226672696.0Topological domainCytoplasmic
TgeneITPR1chr3:5236966chr3:4887823ENST0000045621156582304_231426672696.0Topological domainLumenal
TgeneITPR1chr3:5236966chr3:4887823ENST0000045621156582336_236126672696.0Topological domainCytoplasmic
TgeneITPR1chr3:5236966chr3:4887823ENST0000045621156582383_240526672696.0Topological domainLumenal
TgeneITPR1chr3:5236966chr3:4887823ENST0000045621156582427_244826672696.0Topological domainCytoplasmic
TgeneITPR1chr3:5236966chr3:4887823ENST0000045621156582470_257726672696.0Topological domainLumenal
TgeneITPR1chr3:5236966chr3:4887823ENST0000045621156582599_275826672696.0Topological domainCytoplasmic
TgeneITPR1chr3:5236966chr3:4887823ENST0000030264059612283_230327152744.0TransmembraneHelical
TgeneITPR1chr3:5236966chr3:4887823ENST0000030264059612315_233527152744.0TransmembraneHelical
TgeneITPR1chr3:5236966chr3:4887823ENST0000030264059612362_238227152744.0TransmembraneHelical
TgeneITPR1chr3:5236966chr3:4887823ENST0000030264059612406_242627152744.0TransmembraneHelical
TgeneITPR1chr3:5236966chr3:4887823ENST0000030264059612449_246927152744.0TransmembraneHelical
TgeneITPR1chr3:5236966chr3:4887823ENST0000030264059612578_259827152744.0TransmembraneHelical
TgeneITPR1chr3:5236966chr3:4887823ENST0000035708657592283_230326822711.0TransmembraneHelical
TgeneITPR1chr3:5236966chr3:4887823ENST0000035708657592315_233526822711.0TransmembraneHelical
TgeneITPR1chr3:5236966chr3:4887823ENST0000035708657592362_238226822711.0TransmembraneHelical
TgeneITPR1chr3:5236966chr3:4887823ENST0000035708657592406_242626822711.0TransmembraneHelical
TgeneITPR1chr3:5236966chr3:4887823ENST0000035708657592449_246926822711.0TransmembraneHelical
TgeneITPR1chr3:5236966chr3:4887823ENST0000035708657592578_259826822711.0TransmembraneHelical
TgeneITPR1chr3:5236966chr3:4887823ENST0000044369457592283_230327152744.0TransmembraneHelical
TgeneITPR1chr3:5236966chr3:4887823ENST0000044369457592315_233527152744.0TransmembraneHelical
TgeneITPR1chr3:5236966chr3:4887823ENST0000044369457592362_238227152744.0TransmembraneHelical
TgeneITPR1chr3:5236966chr3:4887823ENST0000044369457592406_242627152744.0TransmembraneHelical
TgeneITPR1chr3:5236966chr3:4887823ENST0000044369457592449_246927152744.0TransmembraneHelical
TgeneITPR1chr3:5236966chr3:4887823ENST0000044369457592578_259827152744.0TransmembraneHelical
TgeneITPR1chr3:5236966chr3:4887823ENST0000045621156582283_230326672696.0TransmembraneHelical
TgeneITPR1chr3:5236966chr3:4887823ENST0000045621156582315_233526672696.0TransmembraneHelical
TgeneITPR1chr3:5236966chr3:4887823ENST0000045621156582362_238226672696.0TransmembraneHelical
TgeneITPR1chr3:5236966chr3:4887823ENST0000045621156582406_242626672696.0TransmembraneHelical
TgeneITPR1chr3:5236966chr3:4887823ENST0000045621156582449_246926672696.0TransmembraneHelical
TgeneITPR1chr3:5236966chr3:4887823ENST0000045621156582578_259826672696.0TransmembraneHelical


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Fusion Gene Sequence for EDEM1-ITPR1


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.
>24952_24952_1_EDEM1-ITPR1_EDEM1_chr3_5236966_ENST00000256497_ITPR1_chr3_4887823_ENST00000357086_length(transcript)=2179nt_BP=715nt
GGCTAGTTCCTGGTGCGTCACGGGGGAGTTCCTTAAAGGGGAAGCGAGCCGGGCTACGGGGCGAGCGCGGGGTGCGGTGGTCGGCGGGGA
GGCCCCCGCGCTTTAAAATAATGCCCGCGGCGCCCGCGCGACCATGCAATGGCGAGCGCTCGTCCTGGGGCTGGTGCTCCTCCGGCTTGG
CCTCCATGGAGTATTGTGGCTCGTCTTCGGGCTGGGGCCCAGCATGGGCTTCTACCAGCGCTTTCCGCTCAGCTTCGGCTTCCAGCGTCT
GAGGAGCCCCGACGGCCCCGCGTCGCCCACCTCGGGGCCCGTGGGCCGGCCTGGGGGGGTATCCGGGCCGTCGTGGCTGCAGCCGCCGGG
GACCGGGGCAGCGCAGAGCCCGCGCAAGGCTCCGCGGCGTCCTGGGCCGGGGATGTGCGGCCCAGCCAACTGGGGCTACGTGCTGGGCGG
CCGGGGCCGCGGCCCGGACGAGTACGAGAAGCGCTACAGCGGCGCCTTCCCTCCGCAGCTGCGTGCCCAGATGCGCGACCTGGCACGGGG
CATGTTCGTCTTTGGCTACGACAACTACATGGCTCACGCCTTCCCCCAGGACGAGCTCAACCCCATCCACTGCCGCGGCCGTGGGCCCGA
CCGCGGGGACCCTTCAAATCTGAACATCAATGATGTACTAGGGAACTACTCATTGACTCTTGTTGATGCATTGGATACACTTGCAATGAC
AGAACAAAGGAAGCAGAAACAAAGAATTGGTCTTCTAGGACATCCTCCTCACATGAATGTCAACCCACAACAACCAGCATAAGCAAATGA
AAGAAAGGAATTGTATTTACCTTTTATAATTATTATTAGTGTGGGTATGGCTAATGAGTTCTGATTCACCCACGAAGGTTACATTTATGC
TGAATACATTTGTAAATACTCAGTTTTATACTGTATGTATATGATTGCTACTCTAAAGGTTTGGATATATGTATTGTAATTAGAATTGTT
GGCATGATGACATTTCATTTGTGCCAAAAATATTAAAAATGCCTTTTTTGGAAGGACTAACAGAAAGCACCTGATTTGCACTTGAACCAG
ATTATAGATTTAAAAGTATATGACATGTATTTTGTATTTAAAACTAGAATAGCCAGTATTTATGTTTTTTATAAAACTGTGCAATACGAA
TTATGCAATCACAATACATTTGTAGCTCCCGAGTGTCCTAAAGGGAGTGCACTTCTTTGAAGCTGGTGTGTTAATACTATGTAATAAATG
GTTAACTTTCAAATGATGCTGCTGCCAAAATTATATTAATAGTGAGTTTCAGGCCCCTGGGCATTTTGTACCATGTAATTATCCTCTGGT
GATGCTGTTTCTCGTTAGTGGCAGTAGTGCCTCCGTCTCCTAGTGATAATGCTCCAAGTCTATGAACTGTTAAATCAGCATTCATTTTAA
GAAAAGCAACTTTAGTTTCAAAGATACTTTTAAGCTTCTAAATTGATCATTTAAACTATTTCTTTAAATAAGAGAGCCAAATTAGAGGCT
CATACTTTAGCTTGTGAAGAAGATAATGAATTTTTTAAAGGGAACTTTCTATGCAATGTTCAGGATAAATGCATACTGCTGGCCAATCAG
TGTCATCTCCTGGGTAAATTTTGATGTCGCATTATAAAGACATGCATAATTGATGGTTTCTAGATTATCTAGTCCAAACAATAGAGTTTA
TTTTTTCTTCATCTGAACCAACATGCTACAGTAGCTAAGAAGTATTAAAACTATATACATCCATATAAAGATGAAATATGAACTATCTCA
TTAGAAGTCATAGTTGACCACAGACATGTTATTCTTCTGAAAGAGCCACATTTTGGTTTTATTTCTTGTCACATGATTTCTTTTCTTGAT
GGATGAAAAATATGAAAGGAAACTTTTATATCTGTTGCCTAGTTTTGTACATGGATCTCATTTTACAAGAGAATCTCTCTGCAAAAAAAA
AAAAAACAGTTTAAAAATGCATTGAAAGCAGAGTTCTGAAATGAGTAAAGTTTGTAAATGCATATATAAAAATATTTAATAAATGATGCA
GAATATACAGTGACTGGTTGGTGGCTTTCATTTGGCATTTGTGACTTAACTGCTATTCCATTTATGTACTTTCTTTAGGATCAGTTTGAA

>24952_24952_1_EDEM1-ITPR1_EDEM1_chr3_5236966_ENST00000256497_ITPR1_chr3_4887823_ENST00000357086_length(amino acids)=222AA_BP=194
MQWRALVLGLVLLRLGLHGVLWLVFGLGPSMGFYQRFPLSFGFQRLRSPDGPASPTSGPVGRPGGVSGPSWLQPPGTGAAQSPRKAPRRP
GPGMCGPANWGYVLGGRGRGPDEYEKRYSGAFPPQLRAQMRDLARGMFVFGYDNYMAHAFPQDELNPIHCRGRGPDRGDPSNLNINDVLG

--------------------------------------------------------------
>24952_24952_2_EDEM1-ITPR1_EDEM1_chr3_5236966_ENST00000256497_ITPR1_chr3_4887823_ENST00000443694_length(transcript)=1972nt_BP=715nt
GGCTAGTTCCTGGTGCGTCACGGGGGAGTTCCTTAAAGGGGAAGCGAGCCGGGCTACGGGGCGAGCGCGGGGTGCGGTGGTCGGCGGGGA
GGCCCCCGCGCTTTAAAATAATGCCCGCGGCGCCCGCGCGACCATGCAATGGCGAGCGCTCGTCCTGGGGCTGGTGCTCCTCCGGCTTGG
CCTCCATGGAGTATTGTGGCTCGTCTTCGGGCTGGGGCCCAGCATGGGCTTCTACCAGCGCTTTCCGCTCAGCTTCGGCTTCCAGCGTCT
GAGGAGCCCCGACGGCCCCGCGTCGCCCACCTCGGGGCCCGTGGGCCGGCCTGGGGGGGTATCCGGGCCGTCGTGGCTGCAGCCGCCGGG
GACCGGGGCAGCGCAGAGCCCGCGCAAGGCTCCGCGGCGTCCTGGGCCGGGGATGTGCGGCCCAGCCAACTGGGGCTACGTGCTGGGCGG
CCGGGGCCGCGGCCCGGACGAGTACGAGAAGCGCTACAGCGGCGCCTTCCCTCCGCAGCTGCGTGCCCAGATGCGCGACCTGGCACGGGG
CATGTTCGTCTTTGGCTACGACAACTACATGGCTCACGCCTTCCCCCAGGACGAGCTCAACCCCATCCACTGCCGCGGCCGTGGGCCCGA
CCGCGGGGACCCTTCAAATCTGAACATCAATGATGTACTAGGGAACTACTCATTGACTCTTGTTGATGCATTGGATACACTTGCAATGAC
AGAACAAAGGAAGCAGAAACAAAGAATTGGTCTTCTAGGACATCCTCCTCACATGAATGTCAACCCACAACAACCAGCATAAGCAAATGA
AAGAAAGGAATTGTATTTACCTTTTATAATTATTATTAGTGTGGGTATGGCTAATGAGTTCTGATTCACCCACGAAGGTTACATTTATGC
TGAATACATTTGTAAATACTCAGTTTTATACTGTATGTATATGATTGCTACTCTAAAGGTTTGGATATATGTATTGTAATTAGAATTGTT
GGCATGATGACATTTCATTTGTGCCAAAAATATTAAAAATGCCTTTTTTGGAAGGACTAACAGAAAGCACCTGATTTGCACTTGAACCAG
ATTATAGATTTAAAAGTATATGACATGTATTTTGTATTTAAAACTAGAATAGCCAGTATTTATGTTTTTTATAAAACTGTGCAATACGAA
TTATGCAATCACAATACATTTGTAGCTCCCGAGTGTCCTAAAGGGAGTGCACTTCTTTGAAGCTGGTGTGTTAATACTATGTAATAAATG
GTTAACTTTCAAATGATGCTGCTGCCAAAATTATATTAATAGTGAGTTTCAGGCCCCTGGGCATTTTGTACCATGTAATTATCCTCTGGT
GATGCTGTTTCTCGTTAGTGGCAGTAGTGCCTCCGTCTCCTAGTGATAATGCTCCAAGTCTATGAACTGTTAAATCAGCATTCATTTTAA
GAAAAGCAACTTTAGTTTCAAAGATACTTTTAAGCTTCTAAATTGATCATTTAAACTATTTCTTTAAATAAGAGAGCCAAATTAGAGGCT
CATACTTTAGCTTGTGAAGAAGATAATGAATTTTTTAAAGGGAACTTTCTATGCAATGTTCAGGATAAATGCATACTGCTGGCCAATCAG
TGTCATCTCCTGGGTAAATTTTGATGTCGCATTATAAAGACATGCATAATTGATGGTTTCTAGATTATCTAGTCCAAACAATAGAGTTTA
TTTTTTCTTCATCTGAACCAACATGCTACAGTAGCTAAGAAGTATTAAAACTATATACATCCATATAAAGATGAAATATGAACTATCTCA
TTAGAAGTCATAGTTGACCACAGACATGTTATTCTTCTGAAAGAGCCACATTTTGGTTTTATTTCTTGTCACATGATTTCTTTTCTTGAT

>24952_24952_2_EDEM1-ITPR1_EDEM1_chr3_5236966_ENST00000256497_ITPR1_chr3_4887823_ENST00000443694_length(amino acids)=222AA_BP=194
MQWRALVLGLVLLRLGLHGVLWLVFGLGPSMGFYQRFPLSFGFQRLRSPDGPASPTSGPVGRPGGVSGPSWLQPPGTGAAQSPRKAPRRP
GPGMCGPANWGYVLGGRGRGPDEYEKRYSGAFPPQLRAQMRDLARGMFVFGYDNYMAHAFPQDELNPIHCRGRGPDRGDPSNLNINDVLG

--------------------------------------------------------------
>24952_24952_3_EDEM1-ITPR1_EDEM1_chr3_5236966_ENST00000256497_ITPR1_chr3_4887823_ENST00000456211_length(transcript)=2179nt_BP=715nt
GGCTAGTTCCTGGTGCGTCACGGGGGAGTTCCTTAAAGGGGAAGCGAGCCGGGCTACGGGGCGAGCGCGGGGTGCGGTGGTCGGCGGGGA
GGCCCCCGCGCTTTAAAATAATGCCCGCGGCGCCCGCGCGACCATGCAATGGCGAGCGCTCGTCCTGGGGCTGGTGCTCCTCCGGCTTGG
CCTCCATGGAGTATTGTGGCTCGTCTTCGGGCTGGGGCCCAGCATGGGCTTCTACCAGCGCTTTCCGCTCAGCTTCGGCTTCCAGCGTCT
GAGGAGCCCCGACGGCCCCGCGTCGCCCACCTCGGGGCCCGTGGGCCGGCCTGGGGGGGTATCCGGGCCGTCGTGGCTGCAGCCGCCGGG
GACCGGGGCAGCGCAGAGCCCGCGCAAGGCTCCGCGGCGTCCTGGGCCGGGGATGTGCGGCCCAGCCAACTGGGGCTACGTGCTGGGCGG
CCGGGGCCGCGGCCCGGACGAGTACGAGAAGCGCTACAGCGGCGCCTTCCCTCCGCAGCTGCGTGCCCAGATGCGCGACCTGGCACGGGG
CATGTTCGTCTTTGGCTACGACAACTACATGGCTCACGCCTTCCCCCAGGACGAGCTCAACCCCATCCACTGCCGCGGCCGTGGGCCCGA
CCGCGGGGACCCTTCAAATCTGAACATCAATGATGTACTAGGGAACTACTCATTGACTCTTGTTGATGCATTGGATACACTTGCAATGAC
AGAACAAAGGAAGCAGAAACAAAGAATTGGTCTTCTAGGACATCCTCCTCACATGAATGTCAACCCACAACAACCAGCATAAGCAAATGA
AAGAAAGGAATTGTATTTACCTTTTATAATTATTATTAGTGTGGGTATGGCTAATGAGTTCTGATTCACCCACGAAGGTTACATTTATGC
TGAATACATTTGTAAATACTCAGTTTTATACTGTATGTATATGATTGCTACTCTAAAGGTTTGGATATATGTATTGTAATTAGAATTGTT
GGCATGATGACATTTCATTTGTGCCAAAAATATTAAAAATGCCTTTTTTGGAAGGACTAACAGAAAGCACCTGATTTGCACTTGAACCAG
ATTATAGATTTAAAAGTATATGACATGTATTTTGTATTTAAAACTAGAATAGCCAGTATTTATGTTTTTTATAAAACTGTGCAATACGAA
TTATGCAATCACAATACATTTGTAGCTCCCGAGTGTCCTAAAGGGAGTGCACTTCTTTGAAGCTGGTGTGTTAATACTATGTAATAAATG
GTTAACTTTCAAATGATGCTGCTGCCAAAATTATATTAATAGTGAGTTTCAGGCCCCTGGGCATTTTGTACCATGTAATTATCCTCTGGT
GATGCTGTTTCTCGTTAGTGGCAGTAGTGCCTCCGTCTCCTAGTGATAATGCTCCAAGTCTATGAACTGTTAAATCAGCATTCATTTTAA
GAAAAGCAACTTTAGTTTCAAAGATACTTTTAAGCTTCTAAATTGATCATTTAAACTATTTCTTTAAATAAGAGAGCCAAATTAGAGGCT
CATACTTTAGCTTGTGAAGAAGATAATGAATTTTTTAAAGGGAACTTTCTATGCAATGTTCAGGATAAATGCATACTGCTGGCCAATCAG
TGTCATCTCCTGGGTAAATTTTGATGTCGCATTATAAAGACATGCATAATTGATGGTTTCTAGATTATCTAGTCCAAACAATAGAGTTTA
TTTTTTCTTCATCTGAACCAACATGCTACAGTAGCTAAGAAGTATTAAAACTATATACATCCATATAAAGATGAAATATGAACTATCTCA
TTAGAAGTCATAGTTGACCACAGACATGTTATTCTTCTGAAAGAGCCACATTTTGGTTTTATTTCTTGTCACATGATTTCTTTTCTTGAT
GGATGAAAAATATGAAAGGAAACTTTTATATCTGTTGCCTAGTTTTGTACATGGATCTCATTTTACAAGAGAATCTCTCTGCAAAAAAAA
AAAAAACAGTTTAAAAATGCATTGAAAGCAGAGTTCTGAAATGAGTAAAGTTTGTAAATGCATATATAAAAATATTTAATAAATGATGCA
GAATATACAGTGACTGGTTGGTGGCTTTCATTTGGCATTTGTGACTTAACTGCTATTCCATTTATGTACTTTCTTTAGGATCAGTTTGAA

>24952_24952_3_EDEM1-ITPR1_EDEM1_chr3_5236966_ENST00000256497_ITPR1_chr3_4887823_ENST00000456211_length(amino acids)=222AA_BP=194
MQWRALVLGLVLLRLGLHGVLWLVFGLGPSMGFYQRFPLSFGFQRLRSPDGPASPTSGPVGRPGGVSGPSWLQPPGTGAAQSPRKAPRRP
GPGMCGPANWGYVLGGRGRGPDEYEKRYSGAFPPQLRAQMRDLARGMFVFGYDNYMAHAFPQDELNPIHCRGRGPDRGDPSNLNINDVLG

--------------------------------------------------------------

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Fusion Gene PPI Analysis for EDEM1-ITPR1


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
TgeneITPR1chr3:5236966chr3:4887823ENST0000030264059612472_25372715.02744.0ERP44
TgeneITPR1chr3:5236966chr3:4887823ENST0000035708657592472_25372682.02711.0ERP44
TgeneITPR1chr3:5236966chr3:4887823ENST0000044369457592472_25372715.02744.0ERP44
TgeneITPR1chr3:5236966chr3:4887823ENST0000045621156582472_25372667.02696.0ERP44


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 EDEM1-ITPR1


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 EDEM1-ITPR1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneEDEM1C0019193Hepatitis, Toxic1CTD_human
HgeneEDEM1C0041696Unipolar Depression1PSYGENET
HgeneEDEM1C0860207Drug-Induced Liver Disease1CTD_human
HgeneEDEM1C1262760Hepatitis, Drug-Induced1CTD_human
HgeneEDEM1C1269683Major Depressive Disorder1PSYGENET
HgeneEDEM1C3658290Drug-Induced Acute Liver Injury1CTD_human
HgeneEDEM1C4277682Chemical and Drug Induced Liver Injury1CTD_human
HgeneEDEM1C4279912Chemically-Induced Liver Toxicity1CTD_human
TgeneC1847725SPINOCEREBELLAR ATAXIA 154CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC0431401Gillespie syndrome3CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC1861732SPINOCEREBELLAR ATAXIA 293CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC0005586Bipolar Disorder2PSYGENET
TgeneC0003132Anoxic Encephalopathy1CTD_human
TgeneC0019193Hepatitis, Toxic1CTD_human
TgeneC0033578Prostatic Neoplasms1CTD_human
TgeneC0376358Malignant neoplasm of prostate1CTD_human
TgeneC0860207Drug-Induced Liver Disease1CTD_human
TgeneC0995195Anoxia of brain1CTD_human
TgeneC1140716Hypoxic Brain Damage1CTD_human
TgeneC1262760Hepatitis, Drug-Induced1CTD_human
TgeneC1527348Brain Hypoxia1CTD_human
TgeneC1535926Neurodevelopmental Disorders1CTD_human
TgeneC3658290Drug-Induced Acute Liver Injury1CTD_human
TgeneC4277682Chemical and Drug Induced Liver Injury1CTD_human
TgeneC4279912Chemically-Induced Liver Toxicity1CTD_human