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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: 12182

FusionGeneSummary for ETV6_GRIA2

check button Fusion gene summary
Fusion gene informationFusion gene name: ETV6_GRIA2
Fusion gene ID: 12182
HgeneTgene
Gene symbol

ETV6

GRIA2

Gene ID

2120

2891

Gene nameETS variant 6glutamate ionotropic receptor AMPA type subunit 2
SynonymsTEL|TEL/ABL|THC5GLUR2|GLURB|GluA2|GluR-K2|HBGR2
Cytomap

12p13.2

4q32.1

Type of geneprotein-codingprotein-coding
Descriptiontranscription factor ETV6ETS translocation variant 6ETS-related protein Tel1TEL1 oncogeneets variant gene 6 (TEL oncogene)glutamate receptor 2AMPA-selective glutamate receptor 2gluR-2gluR-Bglutamate receptor B flip isoformglutamate receptor, ionotropic, AMPA 2
Modification date2018052320180523
UniProtAcc

P41212

P42262

Ensembl transtripts involved in fusion geneENST00000396373, ENST00000544715, 
ENST00000504801, ENST00000507898, 
ENST00000393815, ENST00000296526, 
ENST00000264426, ENST00000449365, 
Fusion gene scores* DoF score23 X 26 X 11=65782 X 2 X 1=4
# samples 472
** MAII scorelog2(47/6578*10)=-3.8069163462704
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(2/4*10)=2.32192809488736
Context

PubMed: ETV6 [Title/Abstract] AND GRIA2 [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
HgeneETV6

GO:0000122

negative regulation of transcription by RNA polymerase II

10514502

TgeneGRIA2

GO:0035235

ionotropic glutamate receptor signaling pathway

20614889


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
ChiTaRS3.1BF748464ETV6chr12

11993250

-GRIA2chr4

158195362

+
* 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-intronENST00000396373ENST00000504801ETV6chr12

11993250

-GRIA2chr4

158195362

+
intron-intronENST00000396373ENST00000507898ETV6chr12

11993250

-GRIA2chr4

158195362

+
intron-intronENST00000396373ENST00000393815ETV6chr12

11993250

-GRIA2chr4

158195362

+
intron-intronENST00000396373ENST00000296526ETV6chr12

11993250

-GRIA2chr4

158195362

+
intron-intronENST00000396373ENST00000264426ETV6chr12

11993250

-GRIA2chr4

158195362

+
intron-intronENST00000396373ENST00000449365ETV6chr12

11993250

-GRIA2chr4

158195362

+
intron-intronENST00000544715ENST00000504801ETV6chr12

11993250

-GRIA2chr4

158195362

+
intron-intronENST00000544715ENST00000507898ETV6chr12

11993250

-GRIA2chr4

158195362

+
intron-intronENST00000544715ENST00000393815ETV6chr12

11993250

-GRIA2chr4

158195362

+
intron-intronENST00000544715ENST00000296526ETV6chr12

11993250

-GRIA2chr4

158195362

+
intron-intronENST00000544715ENST00000264426ETV6chr12

11993250

-GRIA2chr4

158195362

+
intron-intronENST00000544715ENST00000449365ETV6chr12

11993250

-GRIA2chr4

158195362

+

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FusionProtFeatures for ETV6_GRIA2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ETV6

P41212

GRIA2

P42262

Transcriptional repressor; binds to the DNA sequence 5'-CCGGAAGT-3'. Plays a role in hematopoiesis and malignanttransformation. {ECO:0000269|PubMed:25581430}. Receptor for glutamate that functions as ligand-gatedion channel in the central nervous system and plays an importantrole in excitatory synaptic transmission. L-glutamate acts as anexcitatory neurotransmitter at many synapses in the centralnervous system. Binding of the excitatory neurotransmitter L-glutamate induces a conformation change, leading to the opening ofthe cation channel, and thereby converts the chemical signal to anelectrical impulse. The receptor then desensitizes rapidly andenters a transient inactive state, characterized by the presenceof bound agonist. In the presence of CACNG4 or CACNG7 or CACNG8,shows resensitization which is characterized by a delayedaccumulation of current flux upon continued application ofglutamate. Through complex formation with NSG1, GRIP1 and STX12controls the intracellular fate of AMPAR and the endosomal sortingof the GRIA2 subunit toward recycling and membrane targeting (Bysimilarity). {ECO:0000250|UniProtKB:P19491,ECO:0000269|PubMed:20614889}.

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 ETV6_GRIA2


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 ETV6_GRIA2


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 ETV6_GRIA2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneGRIA2P42262DB00849MethylphenobarbitalGlutamate receptor 2small moleculeapproved
TgeneGRIA2P42262DB00898EthanolGlutamate receptor 2small moleculeapproved
TgeneGRIA2P42262DB01354HeptabarbitalGlutamate receptor 2small moleculeapproved
TgeneGRIA2P42262DB01355HexobarbitalGlutamate receptor 2small moleculeapproved
TgeneGRIA2P42262DB00306TalbutalGlutamate receptor 2small moleculeapproved|illicit
TgeneGRIA2P42262DB01351AmobarbitalGlutamate receptor 2small moleculeapproved|illicit
TgeneGRIA2P42262DB01352AprobarbitalGlutamate receptor 2small moleculeapproved|illicit
TgeneGRIA2P42262DB01353ButethalGlutamate receptor 2small moleculeapproved|illicit
TgeneGRIA2P42262DB01174PhenobarbitalGlutamate receptor 2small moleculeapproved|investigational
TgeneGRIA2P42262DB00312PentobarbitalGlutamate receptor 2small moleculeapproved|investigational|vet_approved
TgeneGRIA2P42262DB00142Glutamic AcidGlutamate receptor 2small moleculeapproved|nutraceutical
TgeneGRIA2P42262DB00418SecobarbitalGlutamate receptor 2small moleculeapproved|vet_approved
TgeneGRIA2P42262DB00599ThiopentalGlutamate receptor 2small moleculeapproved|vet_approved
TgeneGRIA2P42262DB00794PrimidoneGlutamate receptor 2small moleculeapproved|vet_approved

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RelatedDiseases for ETV6_GRIA2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneETV6C0023485Precursor B-Cell Lymphoblastic Leukemia-Lymphoma3CTD_human
HgeneETV6C0040034Thrombocytopenia2CTD_human;HPO
HgeneETV6C0236969Substance-Related Disorders1CTD_human
HgeneETV6C0376545Hematologic Neoplasms1CTD_human
HgeneETV6C1838656Macrocytosis, Familial1CTD_human
HgeneETV6C1961102Precursor Cell Lymphoblastic Leukemia Lymphoma1CTD_human
HgeneETV6C3495559Juvenile arthritis1CTD_human
HgeneETV6C4015537THROMBOCYTOPENIA 51UNIPROT
TgeneGRIA2C0005586Bipolar Disorder3PSYGENET
TgeneGRIA2C0036341Schizophrenia2PSYGENET
TgeneGRIA2C0041696Unipolar Depression2PSYGENET
TgeneGRIA2C1269683Major Depressive Disorder2PSYGENET
TgeneGRIA2C0038220Status Epilepticus1CTD_human
TgeneGRIA2C0038587Substance Withdrawal Syndrome1CTD_human
TgeneGRIA2C0236736Cocaine-Related Disorders1CTD_human
TgeneGRIA2C0424295Hyperactive behavior1CTD_human