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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 18020

FusionGeneSummary for JAM3_EPS8L2

check button Fusion gene summary
Fusion gene informationFusion gene name: JAM3_EPS8L2
Fusion gene ID: 18020
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 date2018051920180523
UniProtAcc

Q9BX67

Q9H6S3

Ensembl transtripts involved in fusion geneENST00000529443, ENST00000299106, 
ENST00000441717, ENST00000524969, 
ENST00000318562, ENST00000533256, 
ENST00000530636, ENST00000526198, 
ENST00000534449, 
Fusion gene scores* DoF score4 X 4 X 3=487 X 4 X 7=196
# samples 49
** MAII scorelog2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(9/196*10)=-1.12285674778553
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]

Functional or gene categories assigned by FusionGDB annotation
* 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:0090022

regulation of neutrophil chemotaxis

15194813

TgeneEPS8L2

GO:0007266

Rho protein signal transduction

14565974

TgeneEPS8L2

GO:0035023

regulation of Rho protein signal transduction

14565974


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1T35070JAM3chr11

134019787

-EPS8L2chr11

726684

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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

+

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FusionProtFeatures for JAM3_EPS8L2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
JAM3

Q9BX67

EPS8L2

Q9H6S3

Participates in cell-cell adhesion. It is a counter-receptor for ITGAM, mediating leukocyte-platelet interactions andis involved in the regulation of transepithelial migration ofpolymorphonuclear neutrophils (PMN). The soluble form is amediator of angiogenesis. {ECO:0000269|PubMed:12208882,ECO:0000269|PubMed:15194813, ECO:0000269|PubMed:20592283}. Stimulates guanine exchange activity of SOS1. May play arole in membrane ruffling and remodeling of the actincytoskeleton. In the cochlea, is required for stereociliamaintenance 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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FusionGeneSequence for JAM3_EPS8L2


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI 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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RelatedDrugs for JAM3_EPS8L2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases 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 CATARACTS1CTD_human;ORPHANET;UNIPROT