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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: 11075

FusionGeneSummary for EFNB2_ATIC

check button Fusion gene summary
Fusion gene informationFusion gene name: EFNB2_ATIC
Fusion gene ID: 11075
HgeneTgene
Gene symbol

EFNB2

ATIC

Gene ID

1948

471

Gene nameephrin B25-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
SynonymsEPLG5|HTKL|Htk-L|LERK5AICAR|AICARFT|HEL-S-70p|IMPCHASE|PURH
Cytomap

13q33.3

2q35

Type of geneprotein-codingprotein-coding
Descriptionephrin-B2HTK ligandLERK-5eph-related receptor tyrosine kinase ligand 5ligand of eph-related kinase 5bifunctional purine biosynthesis protein PURH5-aminoimidazole-4-carboxamide-1-beta-D-ribonucleotide transformylase/inosinicaseAICAR formyltransferase/IMP cyclohydrolase bifunctional enzymeAICARFT/IMPCHASEepididymis secretory sperm binding protein Li 7
Modification date2018052320180522
UniProtAcc

P52799

P31939

Ensembl transtripts involved in fusion geneENST00000245323, ENST00000236959, 
ENST00000540518, ENST00000435675, 
Fusion gene scores* DoF score2 X 3 X 1=64 X 4 X 2=32
# samples 34
** MAII scorelog2(3/6*10)=2.32192809488736log2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: EFNB2 [Title/Abstract] AND ATIC [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
HgeneEFNB2

GO:0002042

cell migration involved in sprouting angiogenesis

12734395

HgeneEFNB2

GO:0007155

cell adhesion

12734395

HgeneEFNB2

GO:0010977

negative regulation of neuron projection development

10066262

HgeneEFNB2

GO:0048013

ephrin receptor signaling pathway

12734395

HgeneEFNB2

GO:0050920

regulation of chemotaxis

12734395

HgeneEFNB2

GO:1901216

positive regulation of neuron death

10066262


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
ChiTaRS3.1BE144253EFNB2chr13

107163086

+ATICchr2

216213407

-
* 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
intron-intronENST00000245323ENST00000236959EFNB2chr13

107163086

+ATICchr2

216213407

-
intron-intronENST00000245323ENST00000540518EFNB2chr13

107163086

+ATICchr2

216213407

-
intron-intronENST00000245323ENST00000435675EFNB2chr13

107163086

+ATICchr2

216213407

-

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FusionProtFeatures for EFNB2_ATIC


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
EFNB2

P52799

ATIC

P31939

Cell surface transmembrane ligand for Eph receptors, afamily of receptor tyrosine kinases which are crucial formigration, repulsion and adhesion during neuronal, vascular andepithelial development. Binds promiscuously Eph receptors residingon adjacent cells, leading to contact-dependent bidirectionalsignaling into neighboring cells. The signaling pathway downstreamof the receptor is referred to as forward signaling while thesignaling pathway downstream of the ephrin ligand is referred toas reverse signaling. Binds to receptor tyrosine kinase includingEPHA4, EPHA3 and EPHB4. Together with EPHB4 plays a central rolein heart morphogenesis and angiogenesis through regulation of celladhesion and cell migration. EPHB4-mediated forward signalingcontrols cellular repulsion and segregation from EFNB2-expressingcells. May play a role in constraining the orientation oflongitudinally projecting axons. {ECO:0000269|PubMed:12734395}. (Microbial infection) Acts as a receptor for Hendravirus and Nipah virus. {ECO:0000269|PubMed:15998730,ECO:0000269|PubMed:16007075, ECO:0000269|PubMed:16477309,ECO:0000269|PubMed:17376907}. Bifunctional enzyme that catalyzes 2 steps in purinebiosynthesis. {ECO:0000269|PubMed:14966129}. Promotes insulin receptor/INSR autophosphorylation andis involved in INSR internalization (PubMed:25687571).{ECO:0000269|PubMed:25687571}.

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 EFNB2_ATIC


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 EFNB2_ATIC


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 EFNB2_ATIC


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneATICP31939DB00642PemetrexedBifunctional purine biosynthesis protein PURHsmall moleculeapproved|investigational

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RelatedDiseases for EFNB2_ATIC


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneEFNB2C0023903Liver neoplasms1CTD_human
HgeneEFNB2C0032927Precancerous Conditions1CTD_human
HgeneEFNB2C0035126Reperfusion Injury1CTD_human
HgeneEFNB2C0036341Schizophrenia1PSYGENET
TgeneATICC0003873Rheumatoid Arthritis1CTD_human
TgeneATICC0029456Osteoporosis1CTD_human
TgeneATICC0041755Adverse reaction to drug1CTD_human
TgeneATICC1837530AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency1CTD_human;ORPHANET;UNIPROT