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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:JAM3-EPS8L2 (FusionGDB2 ID:40688)

Fusion Gene Summary for JAM3-EPS8L2

check button Fusion gene summary
Fusion gene informationFusion gene name: JAM3-EPS8L2
Fusion gene ID: 40688
HgeneTgene
Gene symbol

JAM3

EPS8L2

Gene ID

83700

64787

Gene namejunctional adhesion molecule 3EPS8 like 2
SynonymsJAM-2|JAM-3|JAM-C|JAMCDFNB106|EPS8R2
Cytomap

11q25

11p15.5

Type of geneprotein-codingprotein-coding
Descriptionjunctional adhesion molecule Cepidermal growth factor receptor kinase substrate 8-like protein 2EPS8-related protein 2epidermal growth factor receptor pathway substrate 8-related protein 2
Modification date2020031320200313
UniProtAcc

Q9BX67

Q9H6S3

Ensembl transtripts involved in fusion geneENST00000529443, ENST00000299106, 
ENST00000441717, ENST00000524969, 
ENST00000318562, ENST00000533256, 
ENST00000530636, ENST00000526198, 
ENST00000534449, 
Fusion gene scores* DoF score8 X 7 X 4=2249 X 7 X 8=504
# samples 815
** MAII scorelog2(8/224*10)=-1.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(15/504*10)=-1.74846123300404
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: JAM3 [Title/Abstract] AND EPS8L2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointJAM3(134019787)-EPS8L2(726684), # 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
HgeneJAM3

GO:0001525

angiogenesis

20592283

HgeneJAM3

GO:0034113

heterotypic cell-cell adhesion

12208882

HgeneJAM3

GO:0090022

regulation of neutrophil chemotaxis

15194813

HgeneJAM3

GO:0098609

cell-cell adhesion

11823489|19740376

TgeneEPS8L2

GO:0007266

Rho protein signal transduction

14565974

TgeneEPS8L2

GO:0035023

regulation of Rho protein signal transduction

14565974


check buttonFusion gene breakpoints across JAM3 (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 EPS8L2 (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/AT35070JAM3chr11

134019787

-EPS8L2chr11

726684

+


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Fusion Gene ORF analysis for JAM3-EPS8L2

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-3CDSENST00000529443ENST00000318562JAM3chr11

134019787

-EPS8L2chr11

726684

+
3UTR-3CDSENST00000529443ENST00000533256JAM3chr11

134019787

-EPS8L2chr11

726684

+
3UTR-3CDSENST00000529443ENST00000530636JAM3chr11

134019787

-EPS8L2chr11

726684

+
3UTR-3CDSENST00000529443ENST00000526198JAM3chr11

134019787

-EPS8L2chr11

726684

+
3UTR-3UTRENST00000529443ENST00000534449JAM3chr11

134019787

-EPS8L2chr11

726684

+
3UTR-3CDSENST00000299106ENST00000318562JAM3chr11

134019787

-EPS8L2chr11

726684

+
3UTR-3CDSENST00000299106ENST00000533256JAM3chr11

134019787

-EPS8L2chr11

726684

+
3UTR-3CDSENST00000299106ENST00000530636JAM3chr11

134019787

-EPS8L2chr11

726684

+
3UTR-3CDSENST00000299106ENST00000526198JAM3chr11

134019787

-EPS8L2chr11

726684

+
3UTR-3UTRENST00000299106ENST00000534449JAM3chr11

134019787

-EPS8L2chr11

726684

+
3UTR-3CDSENST00000441717ENST00000318562JAM3chr11

134019787

-EPS8L2chr11

726684

+
3UTR-3CDSENST00000441717ENST00000533256JAM3chr11

134019787

-EPS8L2chr11

726684

+
3UTR-3CDSENST00000441717ENST00000530636JAM3chr11

134019787

-EPS8L2chr11

726684

+
3UTR-3CDSENST00000441717ENST00000526198JAM3chr11

134019787

-EPS8L2chr11

726684

+
3UTR-3UTRENST00000441717ENST00000534449JAM3chr11

134019787

-EPS8L2chr11

726684

+
intron-3CDSENST00000524969ENST00000318562JAM3chr11

134019787

-EPS8L2chr11

726684

+
intron-3CDSENST00000524969ENST00000533256JAM3chr11

134019787

-EPS8L2chr11

726684

+
intron-3CDSENST00000524969ENST00000530636JAM3chr11

134019787

-EPS8L2chr11

726684

+
intron-3CDSENST00000524969ENST00000526198JAM3chr11

134019787

-EPS8L2chr11

726684

+
intron-3UTRENST00000524969ENST00000534449JAM3chr11

134019787

-EPS8L2chr11

726684

+

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 JAM3-EPS8L2


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 JAM3-EPS8L2


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
JAM3

Q9BX67

EPS8L2

Q9H6S3

FUNCTION: Junctional adhesion protein that mediates heterotypic cell-cell interactions with its cognate receptor JAM2 to regulate different cellular processes (PubMed:11590146, PubMed:11823489). Plays a role in homing and mobilization of hematopoietic stem and progenitor cells within the bone marrow. At the surface of bone marrow stromal cells, it contributes to the retention of the hematopoietic stem and progenitor cells expressing JAM3 (PubMed:11590146, PubMed:24357068). Plays a central role in leukocytes extravasation by facilitating transmigration through the endothelium (By similarity). Plays a role in spermatogenesis where JAM2 and JAM3, which are respectively expressed by Sertoli and germ cells, mediate an interaction between both cell types and play an essential role in the anchorage of germ cells onto Sertoli cells and the assembly of cell polarity complexes during spermatid differentiation (By similarity). Also functions as a counter-receptor for ITGAM, mediating leukocyte-platelet interactions and is involved in the regulation of transepithelial migration of polymorphonuclear neutrophils (PMN) (PubMed:12208882, PubMed:15194813). Plays a role in angiogenesis (PubMed:23255084). Plays a role in the regulation of cell migration (Probable). During myogenesis, it is involved in myocyte fusion (By similarity). {ECO:0000250|UniProtKB:A3KPA0, ECO:0000250|UniProtKB:Q9D8B7, ECO:0000269|PubMed:11590146, ECO:0000269|PubMed:11823489, ECO:0000269|PubMed:12208882, ECO:0000269|PubMed:15194813, ECO:0000269|PubMed:23255084, ECO:0000269|PubMed:24357068, ECO:0000305|PubMed:28196865}.; FUNCTION: [Soluble form of JAM-C]: Promotes chemotaxis of vascular endothelial cells and stimulates angiogenesis. {ECO:0000269|PubMed:20592283}.FUNCTION: Stimulates guanine exchange activity of SOS1. May play a role in membrane ruffling and remodeling of the actin cytoskeleton. In the cochlea, is required for stereocilia maintenance in adult hair cells (By similarity). {ECO:0000250|UniProtKB:Q99K30, ECO:0000269|PubMed:14565974}.

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 JAM3-EPS8L2


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 JAM3-EPS8L2


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 JAM3-EPS8L2


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 JAM3-EPS8L2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneJAM3C3151000HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS2CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneEPS8L2C3711374Nonsyndromic Deafness3CLINGEN
TgeneEPS8L2C4539954DEAFNESS, AUTOSOMAL RECESSIVE 1061GENOMICS_ENGLAND