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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:MAPK8IP3-IPO13 (FusionGDB2 ID:51316)

Fusion Gene Summary for MAPK8IP3-IPO13

check button Fusion gene summary
Fusion gene informationFusion gene name: MAPK8IP3-IPO13
Fusion gene ID: 51316
HgeneTgene
Gene symbol

MAPK8IP3

IPO13

Gene ID

23162

9670

Gene namemitogen-activated protein kinase 8 interacting protein 3importin 13
SynonymsJIP-3|JIP3|JSAP1|NEDBA|SYD2|sydIMP13|KAP13|LGL2|RANBP13
Cytomap

16p13.3

1p34.1

Type of geneprotein-codingprotein-coding
DescriptionC-Jun-amino-terminal kinase-interacting protein 3C-jun-amino-terminal kinase interacting protein 3JNK MAP kinase scaffold protein 3JNK-interacting protein 3JNK/SAPK-associated protein-1JNK/stress-activated protein kinase-associated protein 1homolog importin-13Ran binding protein 13karyopherin 13late gestation lung 2ran-binding protein 13
Modification date2020031320200327
UniProtAcc

Q9UPT6

O94829

Ensembl transtripts involved in fusion geneENST00000250894, ENST00000356010, 
ENST00000568271, 
ENST00000372343, 
ENST00000372339, ENST00000492152, 
Fusion gene scores* DoF score8 X 8 X 4=2564 X 4 X 3=48
# samples 84
** MAII scorelog2(8/256*10)=-1.67807190511264
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MAPK8IP3 [Title/Abstract] AND IPO13 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointMAPK8IP3(1819723)-IPO13(44433065), # 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
TgeneIPO13

GO:0006606

protein import into nucleus

15964792


check buttonFusion gene breakpoints across MAPK8IP3 (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 IPO13 (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/ABF948732MAPK8IP3chr16

1819723

+IPO13chr1

44433065

+


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Fusion Gene ORF analysis for MAPK8IP3-IPO13

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-3CDSENST00000250894ENST00000372343MAPK8IP3chr16

1819723

+IPO13chr1

44433065

+
3UTR-3CDSENST00000250894ENST00000372339MAPK8IP3chr16

1819723

+IPO13chr1

44433065

+
3UTR-intronENST00000250894ENST00000492152MAPK8IP3chr16

1819723

+IPO13chr1

44433065

+
intron-3CDSENST00000356010ENST00000372343MAPK8IP3chr16

1819723

+IPO13chr1

44433065

+
intron-3CDSENST00000356010ENST00000372339MAPK8IP3chr16

1819723

+IPO13chr1

44433065

+
intron-intronENST00000356010ENST00000492152MAPK8IP3chr16

1819723

+IPO13chr1

44433065

+
intron-3CDSENST00000568271ENST00000372343MAPK8IP3chr16

1819723

+IPO13chr1

44433065

+
intron-3CDSENST00000568271ENST00000372339MAPK8IP3chr16

1819723

+IPO13chr1

44433065

+
intron-intronENST00000568271ENST00000492152MAPK8IP3chr16

1819723

+IPO13chr1

44433065

+

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 MAPK8IP3-IPO13


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 MAPK8IP3-IPO13


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
MAPK8IP3

Q9UPT6

IPO13

O94829

FUNCTION: The JNK-interacting protein (JIP) group of scaffold proteins selectively mediates JNK signaling by aggregating specific components of the MAPK cascade to form a functional JNK signaling module (PubMed:12189133). May function as a regulator of vesicle transport, through interactions with the JNK-signaling components and motor proteins (By similarity). Promotes neuronal axon elongation in a kinesin- and JNK-dependent manner. Activates cofilin at axon tips via local activation of JNK, thereby regulating filopodial dynamics and enhancing axon elongation. Its binding to kinesin heavy chains (KHC), promotes kinesin-1 motility along microtubules and is essential for axon elongation and regeneration. Regulates cortical neuronal migration by mediating NTRK2/TRKB anterograde axonal transport during brain development (By similarity). Acts as an adapter that bridges the interaction between NTRK2/TRKB and KLC1 and drives NTRK2/TRKB axonal but not dendritic anterograde transport, which is essential for subsequent BDNF-triggered signaling and filopodia formation (PubMed:21775604). {ECO:0000250|UniProtKB:Q9ESN9, ECO:0000269|PubMed:12189133, ECO:0000269|PubMed:21775604}.FUNCTION: Functions in nuclear protein import as nuclear transport receptor. Serves as receptor for nuclear localization signals (NLS) in cargo substrates. Is thought to mediate docking of the importin/substrate complex to the nuclear pore complex (NPC) through binding to nucleoporin and the complex is subsequently translocated through the pore by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to the 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 (By similarity). Mediates the nuclear import of UBC9, the RBM8A/MAGOH complex, PAX6 and probably other members of the paired homeobox family. Also mediates nuclear export of eIF-1A, and the cytoplasmic release of eIF-1A is triggered by the loading of import substrates onto IPO13. {ECO:0000250, ECO:0000269|PubMed:11447110, ECO:0000269|PubMed:15143176}.

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 MAPK8IP3-IPO13


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 MAPK8IP3-IPO13


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 MAPK8IP3-IPO13


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 MAPK8IP3-IPO13


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMAPK8IP3C0032460Polycystic Ovary Syndrome1CTD_human
HgeneMAPK8IP3C0557874Global developmental delay1GENOMICS_ENGLAND
HgeneMAPK8IP3C0852413Abnormal muscle tone1GENOMICS_ENGLAND
HgeneMAPK8IP3C1136382Sclerocystic Ovaries1CTD_human
HgeneMAPK8IP3C3714756Intellectual Disability1GENOMICS_ENGLAND
HgeneMAPK8IP3C4022810Abnormality of nervous system morphology1GENOMICS_ENGLAND