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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: 11220

FusionGeneSummary for EIF2B3_CNTNAP2

check button Fusion gene summary
Fusion gene informationFusion gene name: EIF2B3_CNTNAP2
Fusion gene ID: 11220
HgeneTgene
Gene symbol

EIF2B3

CNTNAP2

Gene ID

8891

26047

Gene nameeukaryotic translation initiation factor 2B subunit gammacontactin associated protein like 2
SynonymsEIF-2B|EIF2BgammaAUTS15|CASPR2|CDFE|NRXN4|PTHSL1
Cytomap

1p34.1

7q35-q36.1

Type of geneprotein-codingprotein-coding
Descriptiontranslation initiation factor eIF-2B subunit gammaeIF-2B GDP-GTP exchange factor subunit gammaeukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDacontactin-associated protein-like 2cell recognition molecule Caspr2homolog of Drosophila neurexin IV
Modification date2018051920180519
UniProtAcc

Q9NR50

Q9UHC6

Ensembl transtripts involved in fusion geneENST00000360403, ENST00000372183, 
ENST00000480675, 
ENST00000361727, 
ENST00000538075, ENST00000463592, 
Fusion gene scores* DoF score4 X 2 X 4=328 X 8 X 7=448
# samples 49
** MAII scorelog2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(9/448*10)=-2.31550182572793
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: EIF2B3 [Title/Abstract] AND CNTNAP2 [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
HgeneEIF2B3

GO:0006413

translational initiation

10900014|16289705

HgeneEIF2B3

GO:0050852

T cell receptor signaling pathway

8626696


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
TCGALDOVTCGA-57-1583-01AEIF2B3chr1

45392300

-CNTNAP2chr7

147340479

+
* 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
5CDS-intronENST00000360403ENST00000361727EIF2B3chr1

45392300

-CNTNAP2chr7

147340479

+
5CDS-intronENST00000360403ENST00000538075EIF2B3chr1

45392300

-CNTNAP2chr7

147340479

+
5CDS-intronENST00000360403ENST00000463592EIF2B3chr1

45392300

-CNTNAP2chr7

147340479

+
5CDS-intronENST00000372183ENST00000361727EIF2B3chr1

45392300

-CNTNAP2chr7

147340479

+
5CDS-intronENST00000372183ENST00000538075EIF2B3chr1

45392300

-CNTNAP2chr7

147340479

+
5CDS-intronENST00000372183ENST00000463592EIF2B3chr1

45392300

-CNTNAP2chr7

147340479

+
5UTR-intronENST00000480675ENST00000361727EIF2B3chr1

45392300

-CNTNAP2chr7

147340479

+
5UTR-intronENST00000480675ENST00000538075EIF2B3chr1

45392300

-CNTNAP2chr7

147340479

+
5UTR-intronENST00000480675ENST00000463592EIF2B3chr1

45392300

-CNTNAP2chr7

147340479

+

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FusionProtFeatures for EIF2B3_CNTNAP2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
EIF2B3

Q9NR50

CNTNAP2

Q9UHC6

Catalyzes the exchange of eukaryotic initiation factor2-bound GDP for GTP. Required, with CNTNAP1, for radial and longitudinalorganization of myelinated axons. Plays a role in the formation offunctional distinct domains critical for saltatory conduction ofnerve impulses in myelinated nerve fibers. Demarcates thejuxtaparanodal region of the axo-glial junction.{ECO:0000250|UniProtKB:Q9CPW0}.

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 EIF2B3_CNTNAP2


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 EIF2B3_CNTNAP2


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
EIF2B3EIF2B1, STC2, NDUFB8, EIF2B5, EIF2B4, EIF2B2, EGFR, FBXO6, ABCF1, C14orf166, RTCB, NELFB, YBX3, DDX1, DHX9, DIMT1, EDC4, EIF3C, FKBP3, FLII, G3BP1, HNRNPM, HNRNPU, IGF2BP3, ILF2, MRE11A, NMT1, QARS, RFC4, VTI1B, STX12, ECH1, CA14, GPR183, PNKD, P2RX4, OPN3, SPN, PTGER3, SCN2B, PVRL4, HNRNPA1, XPO1, CDC42, ZWINT, GYPB, SYT1, SIGLECL1, EPHA1, TMEM206, UXS1, FZD10, CD70, CD4, HTR2C, SMDT1CNTNAP2CNTN2, EPB41L3, CASK, CTR9, ZMIZ1, MACF1, IQCB1, MEOX2


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 EIF2B3_CNTNAP2


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 EIF2B3_CNTNAP2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneEIF2B3C1858991Childhood Ataxia with Central Nervous System Hypomyelinization3ORPHANET;UNIPROT
TgeneCNTNAP2C0004352Autistic Disorder4CTD_human
TgeneCNTNAP2C1510586Autism Spectrum Disorders4CTD_human
TgeneCNTNAP2C0023014Language Development Disorders3CTD_human
TgeneCNTNAP2C0014544Epilepsy2CTD_human;HPO
TgeneCNTNAP2C0001973Alcoholic Intoxication, Chronic1PSYGENET
TgeneCNTNAP2C0005586Bipolar Disorder1PSYGENET
TgeneCNTNAP2C0036341Schizophrenia1CTD_human
TgeneCNTNAP2C0038506Stuttering1CTD_human
TgeneCNTNAP2C0041696Unipolar Depression1PSYGENET
TgeneCNTNAP2C0149925Small cell carcinoma of lung1CTD_human
TgeneCNTNAP2C0424295Hyperactive behavior1CTD_human;HPO
TgeneCNTNAP2C1269683Major Depressive Disorder1PSYGENET
TgeneCNTNAP2C1970431PITT-HOPKINS SYNDROME1CTD_human