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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:GRIK1-ITSN2 (FusionGDB2 ID:HG2897TG50618)

Fusion Gene Summary for GRIK1-ITSN2

check button Fusion gene summary
Fusion gene informationFusion gene name: GRIK1-ITSN2
Fusion gene ID: hg2897tg50618
HgeneTgene
Gene symbol

GRIK1

ITSN2

Gene ID

2897

50618

Gene nameglutamate ionotropic receptor kainate type subunit 1intersectin 2
SynonymsEAA3|EEA3|GLR5|GLUR5|GluK1|gluR-5PRO2015|SH3D1B|SH3P18|SWA|SWAP
Cytomap('GRIK1')('ITSN2')

21q21.3

2p23.3

Type of geneprotein-codingprotein-coding
Descriptionglutamate receptor ionotropic, kainate 1excitatory amino acid receptor 3glutamate receptor 5intersectin-2SH3 domain-containing protein 1BSH3P18-like WASP-associated protein
Modification date2020032020200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000309434, ENST00000327783, 
ENST00000389124, ENST00000389125, 
ENST00000399907, ENST00000399909, 
ENST00000399913, ENST00000399914, 
ENST00000472429, ENST00000535441, 
Fusion gene scores* DoF score10 X 8 X 1=809 X 15 X 5=675
# samples 1015
** MAII scorelog2(10/80*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(15/675*10)=-2.16992500144231
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: GRIK1 [Title/Abstract] AND ITSN2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointGRIK1(31154405)-ITSN2(24557800), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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
TgeneITSN2

GO:1903861

positive regulation of dendrite extension

23999003



check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS5.0N/ABP429093GRIK1chr21

31154405

-ITSN2chr2

24557800

+


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Fusion Gene ORF analysis for GRIK1-ITSN2

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-intronENST00000309434ENST00000355123GRIK1chr21

31154405

-ITSN2chr2

24557800

+
intron-intronENST00000309434ENST00000361999GRIK1chr21

31154405

-ITSN2chr2

24557800

+
intron-intronENST00000309434ENST00000406921GRIK1chr21

31154405

-ITSN2chr2

24557800

+
intron-intronENST00000309434ENST00000407704GRIK1chr21

31154405

-ITSN2chr2

24557800

+
intron-intronENST00000327783ENST00000355123GRIK1chr21

31154405

-ITSN2chr2

24557800

+
intron-intronENST00000327783ENST00000361999GRIK1chr21

31154405

-ITSN2chr2

24557800

+
intron-intronENST00000327783ENST00000406921GRIK1chr21

31154405

-ITSN2chr2

24557800

+
intron-intronENST00000327783ENST00000407704GRIK1chr21

31154405

-ITSN2chr2

24557800

+
intron-intronENST00000389124ENST00000355123GRIK1chr21

31154405

-ITSN2chr2

24557800

+
intron-intronENST00000389124ENST00000361999GRIK1chr21

31154405

-ITSN2chr2

24557800

+
intron-intronENST00000389124ENST00000406921GRIK1chr21

31154405

-ITSN2chr2

24557800

+
intron-intronENST00000389124ENST00000407704GRIK1chr21

31154405

-ITSN2chr2

24557800

+
intron-intronENST00000389125ENST00000355123GRIK1chr21

31154405

-ITSN2chr2

24557800

+
intron-intronENST00000389125ENST00000361999GRIK1chr21

31154405

-ITSN2chr2

24557800

+
intron-intronENST00000389125ENST00000406921GRIK1chr21

31154405

-ITSN2chr2

24557800

+
intron-intronENST00000389125ENST00000407704GRIK1chr21

31154405

-ITSN2chr2

24557800

+
intron-intronENST00000399907ENST00000355123GRIK1chr21

31154405

-ITSN2chr2

24557800

+
intron-intronENST00000399907ENST00000361999GRIK1chr21

31154405

-ITSN2chr2

24557800

+
intron-intronENST00000399907ENST00000406921GRIK1chr21

31154405

-ITSN2chr2

24557800

+
intron-intronENST00000399907ENST00000407704GRIK1chr21

31154405

-ITSN2chr2

24557800

+
intron-intronENST00000399909ENST00000355123GRIK1chr21

31154405

-ITSN2chr2

24557800

+
intron-intronENST00000399909ENST00000361999GRIK1chr21

31154405

-ITSN2chr2

24557800

+
intron-intronENST00000399909ENST00000406921GRIK1chr21

31154405

-ITSN2chr2

24557800

+
intron-intronENST00000399909ENST00000407704GRIK1chr21

31154405

-ITSN2chr2

24557800

+
intron-intronENST00000399913ENST00000355123GRIK1chr21

31154405

-ITSN2chr2

24557800

+
intron-intronENST00000399913ENST00000361999GRIK1chr21

31154405

-ITSN2chr2

24557800

+
intron-intronENST00000399913ENST00000406921GRIK1chr21

31154405

-ITSN2chr2

24557800

+
intron-intronENST00000399913ENST00000407704GRIK1chr21

31154405

-ITSN2chr2

24557800

+
intron-intronENST00000399914ENST00000355123GRIK1chr21

31154405

-ITSN2chr2

24557800

+
intron-intronENST00000399914ENST00000361999GRIK1chr21

31154405

-ITSN2chr2

24557800

+
intron-intronENST00000399914ENST00000406921GRIK1chr21

31154405

-ITSN2chr2

24557800

+
intron-intronENST00000399914ENST00000407704GRIK1chr21

31154405

-ITSN2chr2

24557800

+
intron-intronENST00000472429ENST00000355123GRIK1chr21

31154405

-ITSN2chr2

24557800

+
intron-intronENST00000472429ENST00000361999GRIK1chr21

31154405

-ITSN2chr2

24557800

+
intron-intronENST00000472429ENST00000406921GRIK1chr21

31154405

-ITSN2chr2

24557800

+
intron-intronENST00000472429ENST00000407704GRIK1chr21

31154405

-ITSN2chr2

24557800

+
intron-intronENST00000535441ENST00000355123GRIK1chr21

31154405

-ITSN2chr2

24557800

+
intron-intronENST00000535441ENST00000361999GRIK1chr21

31154405

-ITSN2chr2

24557800

+
intron-intronENST00000535441ENST00000406921GRIK1chr21

31154405

-ITSN2chr2

24557800

+
intron-intronENST00000535441ENST00000407704GRIK1chr21

31154405

-ITSN2chr2

24557800

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for GRIK1-ITSN2


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)


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Fusion Protein Features for GRIK1-ITSN2


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:31154405/:24557800)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
..
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

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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Fusion Gene Sequence for GRIK1-ITSN2


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for GRIK1-ITSN2


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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Related Drugs for GRIK1-ITSN2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for GRIK1-ITSN2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneGRIK1C0036341Schizophrenia2PSYGENET
HgeneGRIK1C0687132heavy drinking2PSYGENET
HgeneGRIK1C0001969Alcoholic Intoxication1PSYGENET
HgeneGRIK1C0001973Alcoholic Intoxication, Chronic1PSYGENET
HgeneGRIK1C0005586Bipolar Disorder1PSYGENET
HgeneGRIK1C0022333Jacksonian Seizure1CTD_human
HgeneGRIK1C0036572Seizures1CTD_human
HgeneGRIK1C0149958Complex partial seizures1CTD_human
HgeneGRIK1C0234533Generalized seizures1CTD_human
HgeneGRIK1C0234535Clonic Seizures1CTD_human
HgeneGRIK1C0270824Visual seizure1CTD_human
HgeneGRIK1C0270844Tonic Seizures1CTD_human
HgeneGRIK1C0270846Epileptic drop attack1CTD_human
HgeneGRIK1C0422850Seizures, Somatosensory1CTD_human
HgeneGRIK1C0422852Seizures, Auditory1CTD_human
HgeneGRIK1C0422853Olfactory seizure1CTD_human
HgeneGRIK1C0422854Gustatory seizure1CTD_human
HgeneGRIK1C0422855Vertiginous seizure1CTD_human
HgeneGRIK1C0494475Tonic - clonic seizures1CTD_human
HgeneGRIK1C0573196Overdose of cocaine1PSYGENET
HgeneGRIK1C0751056Non-epileptic convulsion1CTD_human
HgeneGRIK1C0751110Single Seizure1CTD_human
HgeneGRIK1C0751123Atonic Absence Seizures1CTD_human
HgeneGRIK1C0751494Convulsive Seizures1CTD_human
HgeneGRIK1C0751495Seizures, Focal1CTD_human
HgeneGRIK1C0751496Seizures, Sensory1CTD_human
HgeneGRIK1C3495874Nonepileptic Seizures1CTD_human
HgeneGRIK1C3496069cocaine use1PSYGENET
HgeneGRIK1C4048158Convulsions1CTD_human
HgeneGRIK1C4316903Absence Seizures1CTD_human
HgeneGRIK1C4317109Epileptic Seizures1CTD_human
HgeneGRIK1C4317123Myoclonic Seizures1CTD_human
HgeneGRIK1C4505436Generalized Absence Seizures1CTD_human
TgeneC0006142Malignant neoplasm of breast1CTD_human
TgeneC0027643Neoplasm Recurrence, Local1CTD_human
TgeneC0033578Prostatic Neoplasms1CTD_human
TgeneC0086981Sicca Syndrome1CTD_human
TgeneC0376358Malignant neoplasm of prostate1CTD_human
TgeneC0678222Breast Carcinoma1CTD_human
TgeneC1257931Mammary Neoplasms, Human1CTD_human
TgeneC1458155Mammary Neoplasms1CTD_human
TgeneC1527336Sjogren's Syndrome1CTD_human
TgeneC4704874Mammary Carcinoma, Human1CTD_human