Fusion Gene Studies
in Kim Lab

FusionBase FusionGDB FusionGDB2 FusionPDB FusionNeoAntigen FusionAI FusionNW FGviewer Publication Contact
FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:CABIN1-GRIN2A (FusionGDB2 ID:HG23523TG2903)

Fusion Gene Summary for CABIN1-GRIN2A

check button Fusion gene summary
Fusion gene informationFusion gene name: CABIN1-GRIN2A
Fusion gene ID: hg23523tg2903
HgeneTgene
Gene symbol

CABIN1

GRIN2A

Gene ID

23523

2903

Gene namecalcineurin binding protein 1glutamate ionotropic receptor NMDA type subunit 2A
SynonymsCAIN|KB-318B8.7|PPP3INEPND|FESD|GluN2A|LKS|NMDAR2A|NR2A
Cytomap('CABIN1')('GRIN2A')

22q11.23

16p13.2

Type of geneprotein-codingprotein-coding
Descriptioncalcineurin-binding protein cabin-1calcineurin binding protein cabin 1calcineurin inhibitorglutamate receptor ionotropic, NMDA 2AN-methyl D-aspartate receptor subtype 2AN-methyl-D-aspartate receptor channel, subunit epsilon-1N-methyl-D-aspartate receptor subunit 2Aglutamate receptor, ionotropic, N-methyl D-aspartate 2A
Modification date2020031320200313
UniProtAcc

Q9Y6J0

.
Ensembl transtripts involved in fusion geneENST00000263119, ENST00000398319, 
ENST00000405822, ENST00000337989, 
ENST00000485008, 
Fusion gene scores* DoF score16 X 15 X 8=19208 X 7 X 5=280
# samples 188
** MAII scorelog2(18/1920*10)=-3.41503749927884
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(8/280*10)=-1.8073549220576
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CABIN1 [Title/Abstract] AND GRIN2A [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCABIN1(24515665)-GRIN2A(9984957), # samples:3
Anticipated loss of major functional domain due to fusion event.CABIN1-GRIN2A seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
CABIN1-GRIN2A seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF.
CABIN1-GRIN2A seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
CABIN1-GRIN2A seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
CABIN1-GRIN2A seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor due to the frame-shifted ORF.
* 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
HgeneCABIN1

GO:0006336

DNA replication-independent nucleosome assembly

14718166

TgeneGRIN2A

GO:0045471

response to ethanol

18445116

TgeneGRIN2A

GO:0097553

calcium ion transmembrane import into cytosol

26875626



check button Fusion gene information
* 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
ChimerDB4BLCATCGA-DK-A3IN-01ACABIN1chr22

24515665

-GRIN2Achr16

9984957

-
ChimerDB4BLCATCGA-DK-A3IN-01ACABIN1chr22

24515665

+GRIN2Achr16

9984957

-


Top

Fusion Gene ORF analysis for CABIN1-GRIN2A

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-intronENST00000263119ENST00000566670CABIN1chr22

24515665

+GRIN2Achr16

9984957

-
5CDS-intronENST00000398319ENST00000566670CABIN1chr22

24515665

+GRIN2Achr16

9984957

-
5CDS-intronENST00000405822ENST00000566670CABIN1chr22

24515665

+GRIN2Achr16

9984957

-
Frame-shiftENST00000263119ENST00000330684CABIN1chr22

24515665

+GRIN2Achr16

9984957

-
Frame-shiftENST00000263119ENST00000396573CABIN1chr22

24515665

+GRIN2Achr16

9984957

-
Frame-shiftENST00000263119ENST00000396575CABIN1chr22

24515665

+GRIN2Achr16

9984957

-
Frame-shiftENST00000263119ENST00000404927CABIN1chr22

24515665

+GRIN2Achr16

9984957

-
Frame-shiftENST00000263119ENST00000535259CABIN1chr22

24515665

+GRIN2Achr16

9984957

-
Frame-shiftENST00000263119ENST00000562109CABIN1chr22

24515665

+GRIN2Achr16

9984957

-
Frame-shiftENST00000398319ENST00000330684CABIN1chr22

24515665

+GRIN2Achr16

9984957

-
Frame-shiftENST00000398319ENST00000396573CABIN1chr22

24515665

+GRIN2Achr16

9984957

-
Frame-shiftENST00000398319ENST00000396575CABIN1chr22

24515665

+GRIN2Achr16

9984957

-
Frame-shiftENST00000398319ENST00000404927CABIN1chr22

24515665

+GRIN2Achr16

9984957

-
Frame-shiftENST00000398319ENST00000535259CABIN1chr22

24515665

+GRIN2Achr16

9984957

-
Frame-shiftENST00000398319ENST00000562109CABIN1chr22

24515665

+GRIN2Achr16

9984957

-
Frame-shiftENST00000405822ENST00000330684CABIN1chr22

24515665

+GRIN2Achr16

9984957

-
Frame-shiftENST00000405822ENST00000396573CABIN1chr22

24515665

+GRIN2Achr16

9984957

-
Frame-shiftENST00000405822ENST00000396575CABIN1chr22

24515665

+GRIN2Achr16

9984957

-
Frame-shiftENST00000405822ENST00000404927CABIN1chr22

24515665

+GRIN2Achr16

9984957

-
Frame-shiftENST00000405822ENST00000535259CABIN1chr22

24515665

+GRIN2Achr16

9984957

-
Frame-shiftENST00000405822ENST00000562109CABIN1chr22

24515665

+GRIN2Achr16

9984957

-
intron-3CDSENST00000337989ENST00000330684CABIN1chr22

24515665

+GRIN2Achr16

9984957

-
intron-3CDSENST00000337989ENST00000396573CABIN1chr22

24515665

+GRIN2Achr16

9984957

-
intron-3CDSENST00000337989ENST00000396575CABIN1chr22

24515665

+GRIN2Achr16

9984957

-
intron-3CDSENST00000337989ENST00000404927CABIN1chr22

24515665

+GRIN2Achr16

9984957

-
intron-3CDSENST00000337989ENST00000535259CABIN1chr22

24515665

+GRIN2Achr16

9984957

-
intron-3CDSENST00000337989ENST00000562109CABIN1chr22

24515665

+GRIN2Achr16

9984957

-
intron-3CDSENST00000485008ENST00000330684CABIN1chr22

24515665

+GRIN2Achr16

9984957

-
intron-3CDSENST00000485008ENST00000396573CABIN1chr22

24515665

+GRIN2Achr16

9984957

-
intron-3CDSENST00000485008ENST00000396575CABIN1chr22

24515665

+GRIN2Achr16

9984957

-
intron-3CDSENST00000485008ENST00000404927CABIN1chr22

24515665

+GRIN2Achr16

9984957

-
intron-3CDSENST00000485008ENST00000535259CABIN1chr22

24515665

+GRIN2Achr16

9984957

-
intron-3CDSENST00000485008ENST00000562109CABIN1chr22

24515665

+GRIN2Achr16

9984957

-
intron-intronENST00000337989ENST00000566670CABIN1chr22

24515665

+GRIN2Achr16

9984957

-
intron-intronENST00000485008ENST00000566670CABIN1chr22

24515665

+GRIN2Achr16

9984957

-

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

Top

Fusion Genomic Features for CABIN1-GRIN2A


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)


Top

Fusion Protein Features for CABIN1-GRIN2A


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/:24515665/:9984957)
- 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
CABIN1

Q9Y6J0

.
FUNCTION: May be required for replication-independent chromatin assembly. May serve as a negative regulator of T-cell receptor (TCR) signaling via inhibition of calcineurin. Inhibition of activated calcineurin is dependent on both PKC and calcium signals. Acts as a negative regulator of p53/TP53 by keeping p53 in an inactive state on chromatin at promoters of a subset of it's target genes. {ECO:0000269|PubMed:14718166, ECO:0000269|PubMed:9655484}.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


Top

Fusion Gene Sequence for CABIN1-GRIN2A


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.

Top

Fusion Gene PPI Analysis for CABIN1-GRIN2A


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


Top

Related Drugs for CABIN1-GRIN2A


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

Top

Related Diseases for CABIN1-GRIN2A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCABIN1C0018800Cardiomegaly1CTD_human
HgeneCABIN1C1383860Cardiac Hypertrophy1CTD_human
TgeneC3806402EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION12CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC0005586Bipolar Disorder6CTD_human;PSYGENET
TgeneC0036341Schizophrenia5PSYGENET
TgeneC0001973Alcoholic Intoxication, Chronic4PSYGENET
TgeneC0011570Mental Depression4PSYGENET
TgeneC0011581Depressive disorder4PSYGENET
TgeneC0282512Landau-Kleffner Syndrome3CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneC0525045Mood Disorders3PSYGENET
TgeneC0014544Epilepsy2CTD_human
TgeneC0086237Epilepsy, Cryptogenic2CTD_human
TgeneC0236018Aura2CTD_human
TgeneC0751111Awakening Epilepsy2CTD_human
TgeneC0004352Autistic Disorder1CTD_human
TgeneC0005587Depression, Bipolar1CTD_human
TgeneC0009090Cluttering1CTD_human
TgeneC0009402Colorectal Carcinoma1CTD_human
TgeneC0009404Colorectal Neoplasms1CTD_human
TgeneC0023012Language Delay1CTD_human
TgeneC0023014Language Development Disorders1CTD_human
TgeneC0024713Manic Disorder1CTD_human
TgeneC0025202melanoma1CTD_human
TgeneC0026552Morphine Dependence1CTD_human
TgeneC0037822Speech Disorders1CTD_human
TgeneC0038587Substance Withdrawal Syndrome1CTD_human
TgeneC0086189Drug Withdrawal Symptoms1CTD_human
TgeneC0087169Withdrawal Symptoms1CTD_human
TgeneC0233726Aprosodia1CTD_human
TgeneC0241210Speech Delay1CTD_human
TgeneC0338831Manic1CTD_human
TgeneC0376532Epilepsy, Rolandic1CTD_human;ORPHANET
TgeneC0454655Semantic-Pragmatic Disorder1CTD_human
TgeneC0600272Morphine Abuse1CTD_human
TgeneC0751257Auditory Processing Disorder, Central1CTD_human
TgeneC0751512Dysglossia1CTD_human
TgeneC0751513Rhinolalia1CTD_human
TgeneC0751514Verbal Fluency Disorders1CTD_human
TgeneC2363129Benign Rolandic Epilepsy1CTD_human;ORPHANET
TgeneC3495145Dyslalia1CTD_human
TgeneC4749281Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation1ORPHANET