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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:IPO7-DLG1 (FusionGDB2 ID:39889)

Fusion Gene Summary for IPO7-DLG1

check button Fusion gene summary
Fusion gene informationFusion gene name: IPO7-DLG1
Fusion gene ID: 39889
HgeneTgene
Gene symbol

IPO7

DLG1

Gene ID

10527

1739

Gene nameimportin 7discs large MAGUK scaffold protein 1
SynonymsImp7|RANBP7DLGH1|SAP-97|SAP97|hdlg
Cytomap

11p15.4

3q29

Type of geneprotein-codingprotein-coding
Descriptionimportin-7RAN-binding protein 7disks large homolog 1dJ1061C18.1.1discs large homolog 1, scribble cell polarity complex componentpresynaptic protein SAP97synapse-associated protein 97
Modification date2020031320200327
UniProtAcc

O95373

Q12959

Ensembl transtripts involved in fusion geneENST00000379719, ENST00000533680, 
ENST00000357674, ENST00000314062, 
ENST00000346964, ENST00000419354, 
ENST00000452595, ENST00000422288, 
ENST00000448528, ENST00000443183, 
ENST00000450955, ENST00000392382, 
ENST00000485409, 
Fusion gene scores* DoF score14 X 10 X 11=154014 X 15 X 6=1260
# samples 1716
** MAII scorelog2(17/1540*10)=-3.17932369944456
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(16/1260*10)=-2.97727992349992
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: IPO7 [Title/Abstract] AND DLG1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointIPO7(9459832)-DLG1(196778539), # samples:1
Anticipated loss of major functional domain due to fusion event.IPO7-DLG1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
IPO7-DLG1 seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor due to the frame-shifted ORF.
IPO7-DLG1 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
TgeneDLG1

GO:0001935

endothelial cell proliferation

14699157

TgeneDLG1

GO:0007015

actin filament organization

14699157

TgeneDLG1

GO:0030866

cortical actin cytoskeleton organization

14699157

TgeneDLG1

GO:0042391

regulation of membrane potential

12970345

TgeneDLG1

GO:0043268

positive regulation of potassium ion transport

12970345

TgeneDLG1

GO:0070830

bicellular tight junction assembly

17332497

TgeneDLG1

GO:0098609

cell-cell adhesion

14699157

TgeneDLG1

GO:1902473

regulation of protein localization to synapse

23676497

TgeneDLG1

GO:1903078

positive regulation of protein localization to plasma membrane

12970345


check buttonFusion gene breakpoints across IPO7 (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 DLG1 (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
ChimerDB4OVTCGA-13-0885IPO7chr11

9459832

+DLG1chr3

196778539

-


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Fusion Gene ORF analysis for IPO7-DLG1

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
Frame-shiftENST00000379719ENST00000357674IPO7chr11

9459832

+DLG1chr3

196778539

-
Frame-shiftENST00000379719ENST00000314062IPO7chr11

9459832

+DLG1chr3

196778539

-
Frame-shiftENST00000379719ENST00000346964IPO7chr11

9459832

+DLG1chr3

196778539

-
Frame-shiftENST00000379719ENST00000419354IPO7chr11

9459832

+DLG1chr3

196778539

-
Frame-shiftENST00000379719ENST00000452595IPO7chr11

9459832

+DLG1chr3

196778539

-
Frame-shiftENST00000379719ENST00000422288IPO7chr11

9459832

+DLG1chr3

196778539

-
Frame-shiftENST00000379719ENST00000448528IPO7chr11

9459832

+DLG1chr3

196778539

-
Frame-shiftENST00000379719ENST00000443183IPO7chr11

9459832

+DLG1chr3

196778539

-
Frame-shiftENST00000379719ENST00000450955IPO7chr11

9459832

+DLG1chr3

196778539

-
Frame-shiftENST00000379719ENST00000392382IPO7chr11

9459832

+DLG1chr3

196778539

-
5CDS-intronENST00000379719ENST00000485409IPO7chr11

9459832

+DLG1chr3

196778539

-
intron-3CDSENST00000533680ENST00000357674IPO7chr11

9459832

+DLG1chr3

196778539

-
intron-3CDSENST00000533680ENST00000314062IPO7chr11

9459832

+DLG1chr3

196778539

-
intron-3CDSENST00000533680ENST00000346964IPO7chr11

9459832

+DLG1chr3

196778539

-
intron-3CDSENST00000533680ENST00000419354IPO7chr11

9459832

+DLG1chr3

196778539

-
intron-3CDSENST00000533680ENST00000452595IPO7chr11

9459832

+DLG1chr3

196778539

-
intron-3CDSENST00000533680ENST00000422288IPO7chr11

9459832

+DLG1chr3

196778539

-
intron-3CDSENST00000533680ENST00000448528IPO7chr11

9459832

+DLG1chr3

196778539

-
intron-3CDSENST00000533680ENST00000443183IPO7chr11

9459832

+DLG1chr3

196778539

-
intron-3CDSENST00000533680ENST00000450955IPO7chr11

9459832

+DLG1chr3

196778539

-
intron-3CDSENST00000533680ENST00000392382IPO7chr11

9459832

+DLG1chr3

196778539

-
intron-intronENST00000533680ENST00000485409IPO7chr11

9459832

+DLG1chr3

196778539

-

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 IPO7-DLG1


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 IPO7-DLG1


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
IPO7

O95373

DLG1

Q12959

FUNCTION: Functions in nuclear protein import, either by acting as autonomous nuclear transport receptor or as an adapter-like protein in association with the importin-beta subunit KPNB1. Acting autonomously, is thought to serve itself as receptor for nuclear localization signals (NLS) and to promote translocation of import substrates through the nuclear pore complex (NPC) by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to importin, the importin/substrate complex dissociates and importin is re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran. The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus. Mediates autonomously the nuclear import of ribosomal proteins RPL23A, RPS7 and RPL5. Binds to a beta-like import receptor binding (BIB) domain of RPL23A. In association with KPNB1 mediates the nuclear import of H1 histone and the Ran-binding site of IPO7 is not required but synergizes with that of KPNB1 in importin/substrate complex dissociation. In vitro, mediates nuclear import of H2A, H2B, H3 and H4 histones. {ECO:0000269|PubMed:10228156, ECO:0000269|PubMed:9687515}.; FUNCTION: (Microbial infection) Mediates the nuclear import of HIV-1 reverse transcription complex (RTC) integrase. Binds and mediates the nuclear import of HIV-1 Rev. {ECO:0000269|PubMed:12853482, ECO:0000269|PubMed:16704975}.FUNCTION: Essential multidomain scaffolding protein required for normal development (By similarity). Recruits channels, receptors and signaling molecules to discrete plasma membrane domains in polarized cells. May play a role in adherens junction assembly, signal transduction, cell proliferation, synaptogenesis and lymphocyte activation. Regulates the excitability of cardiac myocytes by modulating the functional expression of Kv4 channels. Functional regulator of Kv1.5 channel. During long-term depression in hippocampal neurons, it recruits ADAM10 to the plasma membrane (PubMed:23676497). {ECO:0000250, ECO:0000269|PubMed:10656683, ECO:0000269|PubMed:12445884, ECO:0000269|PubMed:14699157, ECO:0000269|PubMed:15263016, ECO:0000269|PubMed:19213956, ECO:0000269|PubMed:20605917, ECO:0000269|PubMed:23676497}.

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 IPO7-DLG1


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 IPO7-DLG1


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 IPO7-DLG1


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 IPO7-DLG1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneIPO7C0019693HIV Infections1CTD_human
HgeneIPO7C4505456HIV Coinfection1CTD_human
TgeneDLG1C0036341Schizophrenia3CTD_human
TgeneDLG1C0008925Cleft Palate1CTD_human
TgeneDLG1C0158646Cleft palate with cleft lip1ORPHANET
TgeneDLG1C1837218Cleft palate, isolated1CTD_human