FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 20287

FusionGeneSummary for LRRFIP2_EPHA3

check button Fusion gene summary
Fusion gene informationFusion gene name: LRRFIP2_EPHA3
Fusion gene ID: 20287
HgeneTgene
Gene symbol

LRRFIP2

EPHA3

Gene ID

9209

2042

Gene nameLRR binding FLII interacting protein 2EPH receptor A3
SynonymsHUFI-2EK4|ETK|ETK1|HEK|HEK4|TYRO4
Cytomap

3p22.2

3p11.1

Type of geneprotein-codingprotein-coding
Descriptionleucine-rich repeat flightless-interacting protein 2LRR FLII-interacting protein 2leucine rich repeat (in FLII) interacting protein 2ephrin type-A receptor 3EPH-like kinase 4TYRO4 protein tyrosine kinaseeph-like tyrosine kinase 1human embryo kinase 1testicular tissue protein Li 64tyrosine-protein kinase receptor ETK1
Modification date2018052220180523
UniProtAcc

Q9Y608

P29320

Ensembl transtripts involved in fusion geneENST00000421307, ENST00000354379, 
ENST00000336686, ENST00000421276, 
ENST00000396428, ENST00000440230, 
ENST00000490597, 
ENST00000336596, 
ENST00000452448, ENST00000494014, 
Fusion gene scores* DoF score5 X 4 X 4=804 X 4 X 4=64
# samples 54
** MAII scorelog2(5/80*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/64*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: LRRFIP2 [Title/Abstract] AND EPHA3 [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
TgeneEPHA3

GO:0018108

peptidyl-tyrosine phosphorylation

11877430

TgeneEPHA3

GO:0032956

regulation of actin cytoskeleton organization

11870224

TgeneEPHA3

GO:0043087

regulation of GTPase activity

11870224

TgeneEPHA3

GO:0045806

negative regulation of endocytosis

11877430

TgeneEPHA3

GO:0048013

ephrin receptor signaling pathway

11870224

TgeneEPHA3

GO:0051893

regulation of focal adhesion assembly

11870224

TgeneEPHA3

GO:0070507

regulation of microtubule cytoskeleton organization

11870224

TgeneEPHA3

GO:1903078

positive regulation of protein localization to plasma membrane

11877430


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
TCGARVSTADTCGA-BR-4363-01ALRRFIP2chr3

37190385

-EPHA3chr3

89521614

+
* 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
Frame-shitENST00000421307ENST00000336596LRRFIP2chr3

37190385

-EPHA3chr3

89521614

+
5CDS-intronENST00000421307ENST00000452448LRRFIP2chr3

37190385

-EPHA3chr3

89521614

+
5CDS-intronENST00000421307ENST00000494014LRRFIP2chr3

37190385

-EPHA3chr3

89521614

+
Frame-shitENST00000354379ENST00000336596LRRFIP2chr3

37190385

-EPHA3chr3

89521614

+
5CDS-intronENST00000354379ENST00000452448LRRFIP2chr3

37190385

-EPHA3chr3

89521614

+
5CDS-intronENST00000354379ENST00000494014LRRFIP2chr3

37190385

-EPHA3chr3

89521614

+
Frame-shitENST00000336686ENST00000336596LRRFIP2chr3

37190385

-EPHA3chr3

89521614

+
5CDS-intronENST00000336686ENST00000452448LRRFIP2chr3

37190385

-EPHA3chr3

89521614

+
5CDS-intronENST00000336686ENST00000494014LRRFIP2chr3

37190385

-EPHA3chr3

89521614

+
Frame-shitENST00000421276ENST00000336596LRRFIP2chr3

37190385

-EPHA3chr3

89521614

+
5CDS-intronENST00000421276ENST00000452448LRRFIP2chr3

37190385

-EPHA3chr3

89521614

+
5CDS-intronENST00000421276ENST00000494014LRRFIP2chr3

37190385

-EPHA3chr3

89521614

+
Frame-shitENST00000396428ENST00000336596LRRFIP2chr3

37190385

-EPHA3chr3

89521614

+
5CDS-intronENST00000396428ENST00000452448LRRFIP2chr3

37190385

-EPHA3chr3

89521614

+
5CDS-intronENST00000396428ENST00000494014LRRFIP2chr3

37190385

-EPHA3chr3

89521614

+
Frame-shitENST00000440230ENST00000336596LRRFIP2chr3

37190385

-EPHA3chr3

89521614

+
5CDS-intronENST00000440230ENST00000452448LRRFIP2chr3

37190385

-EPHA3chr3

89521614

+
5CDS-intronENST00000440230ENST00000494014LRRFIP2chr3

37190385

-EPHA3chr3

89521614

+
intron-3CDSENST00000490597ENST00000336596LRRFIP2chr3

37190385

-EPHA3chr3

89521614

+
intron-intronENST00000490597ENST00000452448LRRFIP2chr3

37190385

-EPHA3chr3

89521614

+
intron-intronENST00000490597ENST00000494014LRRFIP2chr3

37190385

-EPHA3chr3

89521614

+

Top

FusionProtFeatures for LRRFIP2_EPHA3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
LRRFIP2

Q9Y608

EPHA3

P29320

May function as activator of the canonical Wnt signalingpathway, in association with DVL3, upstream of CTNNB1/beta-catenin. Positively regulates Toll-like receptor (TLR) signalingin response to agonist probably by competing with the negativeFLII regulator for MYD88-binding. {ECO:0000269|PubMed:15677333,ECO:0000269|PubMed:19265123}. Receptor tyrosine kinase which binds promiscuouslymembrane-bound ephrin family ligands residing on adjacent cells,leading to contact-dependent bidirectional signaling intoneighboring cells. The signaling pathway downstream of thereceptor is referred to as forward signaling while the signalingpathway downstream of the ephrin ligand is referred to as reversesignaling. Highly promiscuous for ephrin-A ligands it bindspreferentially EFNA5. Upon activation by EFNA5 regulates cell-celladhesion, cytoskeletal organization and cell migration. Plays arole in cardiac cells migration and differentiation and regulatesthe formation of the atrioventricular canal and septum duringdevelopment probably through activation by EFNA1. Involved in theretinotectal mapping of neurons. May also control the segregationbut not the guidance of motor and sensory axons duringneuromuscular circuit development. {ECO:0000269|PubMed:11870224}.

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


Top

FusionGeneSequence for LRRFIP2_EPHA3


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).

Top

FusionGenePPI for LRRFIP2_EPHA3


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
LRRFIP2FLII, MYD88, ELAVL1, UBD, CFTR, PAN2, ATPAF2, TMOD1, CAPZA1, IFI16, CAPZA2, CDK2, DBN1, MYH9, IQGAP1, SYNPO, MYO5C, MYO19, MYO18A, STAT3, TMOD3, TMOD4, KARS, RASSF7EPHA3TP53, CRK, EFNB2, EFNA5, EFNA1, EFNB1, EFNA3, EFNA4, SRC, FYN, ABL1, RBM18, SRPK1, CDKN2A, HLA-DRA, CEACAM21, TMEM231, EPHA7, LRRIQ1, FAM118B, SLAMF1, ILKAP, CTDSP2, DUSP18, DUSP21, STYX, TPTE, MTMR11


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


Top

RelatedDrugs for LRRFIP2_EPHA3


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

Top

RelatedDiseases for LRRFIP2_EPHA3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource