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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:RHPN2-GRIN2D

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: RHPN2-GRIN2D
FusionPDB ID: 74026
FusionGDB2.0 ID: 74026
HgeneTgene
Gene symbol

RHPN2

GRIN2D

Gene ID

85415

2906

Gene namerhophilin Rho GTPase binding protein 2glutamate ionotropic receptor NMDA type subunit 2D
SynonymsP76RBE|RHOBPEB11|EIEE46|GluN2D|NMDAR2D|NR2D
Cytomap

19q13.11

19q13.33

Type of geneprotein-codingprotein-coding
Descriptionrhophilin-276 kDa RhoB effector proteinGTP-Rho-binding protein 2rhophilin-like Rho-GTPase binding proteinglutamate receptor ionotropic, NMDA 2DN-methyl D-aspartate receptor subtype 2DN-methyl-d-aspartate receptor subunit 2Destrogen receptor binding CpG islandglutamate [NMDA] receptor subunit epsilon-4glutamate receptor, ionotropic, N-methyl D-aspartate
Modification date2020031320200313
UniProtAcc.

O15399

Ensembl transtripts involved in fusion geneENST idsENST00000588683, ENST00000400226, 
ENST00000254260, 		ENST00000263269, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score18 X 12 X 11=23765 X 9 X 5=225
# samples 298
** MAII scorelog2(29/2376*10)=-3.03441003078583
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(8/225*10)=-1.49185309632967
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: RHPN2 [Title/Abstract] AND GRIN2D [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)RHPN2(33481420)-GRIN2D(48919259), # samples:3
Anticipated loss of major functional domain due to fusion event.RHPN2-GRIN2D seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
RHPN2-GRIN2D seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
RHPN2-GRIN2D seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
RHPN2-GRIN2D seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
RHPN2-GRIN2D seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
RHPN2-GRIN2D seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target 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
TgeneGRIN2D

GO:0097553

calcium ion transmembrane import into cytosol

26875626


check buttonFusion gene breakpoints across RHPN2 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across GRIN2D (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
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
ChimerDB4OVTCGA-24-1544-01ARHPN2chr19

33481420

-GRIN2Dchr19

48919259

+
ChimerDB4OVTCGA-24-1544RHPN2chr19

33481419

-GRIN2Dchr19

48919258

+


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)
ENST00000254260RHPN2chr1933481420-ENST00000263269GRIN2Dchr1948919259+526018363642651409
ENST00000254260RHPN2chr1933481419-ENST00000263269GRIN2Dchr1948919258+526018363642651409

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
ENST00000254260ENST00000263269RHPN2chr1933481420-GRIN2Dchr1948919259+0.0026809550.99731904
ENST00000254260ENST00000263269RHPN2chr1933481419-GRIN2Dchr1948919258+0.0026809550.99731904

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>74026_74026_1_RHPN2-GRIN2D_RHPN2_chr19_33481419_ENST00000254260_GRIN2D_chr19_48919258_ENST00000263269_length(amino acids)=1409AA_BP=984
MTDALLPAAPQPLEKENDGYFRKGCNPLAQTGRSKLQNQRAALNQQILKAVRMRTGAENLLKVATNSKVREQVRLELSFVNSDLQMLKEE
LEGLNISVGVYQNTEEAFTIPLIPLGLKETKDVDFAVVLKDFILEHYSEDGYLYEDEIADLMDLRQACRTPSRDEAGVELLMTYFIQLGF
VESRFFPPTRQMGLLFTWYDSLTGVPVSQQNLLLEKASVLFNTGALYTQIGTRCDRQTQAGLESAIDAFQRAAGVLNYLKDTFTHTPSYD
MSPAMLSVLVKMMLAQAQESVFEKISLPGIRNEFFMLVKVAQEAAKVGEVYQQLHAAMSQAPVKENIPYSWASLACVKAHHYAALAHYFT
AILLIDHQVKPGTDLDHQEKCLSQLYDHMPEGLTPLATLKNDQQRRQLGKSHLRRAMAHHEESVREASLCKKLRSIEVLQKVLCAAQERS
RLTYAQHQEEDDLLNLIDAPSVVAKTEQEVDIILPQFSKLTVTDFFQKLGPLSVFSANKRWTPPRSIRFTAEEGDLGFTLRGNAPVQVHF
LDPYCSASVAGAREGDYIVSIQLVDCKWLTLSEVMKLLKSFGEDEIEMKVVSLLDSTSSMVFYQRADMAIGSLTINEERSEIVDFSVPFV
ETGISVMVARSNGTVSPSAFLEPYSPAVWVMMFVMCLTVVAVTVFIFEYLSPVGYNRSLATGKRPGGSTFTIGKSIWLLWALVFNNSVPV
ENPRGTTSKIMVLVWAFFAVIFLASYTANLAAFMIQEEYVDTVSGLSDRKFQRPQEQYPPLKFGTVPNGSTEKNIRSNYPDMHSYMVRYN
QPRVEEALTQLKAGKLDAFIYDAAVLNYMARKDEGCKLVTIGSGKVFATTGYGIALHKGSRWKRPIDLALLQFLGDDEIEMLERLWLSGI
CHNDKIEVMSSKLDIDNMAGVFYMLLVAMGLSLLVFAWEHLVYWRLRHCLGPTHRMDFLLAFSRGMYSCCSAEAAPPPAKPPPPPQPLPS
PAYPAPRPAPGPAPFVPRERASVDRWRRTKGAGPPGGAGLADGFHRYYGPIEPQGLGLGLGEARAAPRGAAGRPLSPPAAQPPQKPPPSY
FAIVRDKEPAEPPAGAFPGFPSPPAPPAAAATAVGPPLCRLAFEDESPPAPARWPRSDPESQPLLGPGAGGAGGTGGAGGGAPAAPPPCR
AAPPPCPYLDLEPSPSDSEDSESLGGASLGGLEPWWFADFPYPYAERLGPPPGRYWSVDKLGGWRAGSWDYLPPRSGPAAWHCRHCASLE
LLPPPRHLSCSHDGLDGGWWAPPPPPWAAGPLPRRRARCGCPRSHPHRPRASHRTPAAAAPHHHRHRRAAGGWDLPPPAPTSRSLEDLSS

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>74026_74026_2_RHPN2-GRIN2D_RHPN2_chr19_33481420_ENST00000254260_GRIN2D_chr19_48919259_ENST00000263269_length(amino acids)=1409AA_BP=984
MTDALLPAAPQPLEKENDGYFRKGCNPLAQTGRSKLQNQRAALNQQILKAVRMRTGAENLLKVATNSKVREQVRLELSFVNSDLQMLKEE
LEGLNISVGVYQNTEEAFTIPLIPLGLKETKDVDFAVVLKDFILEHYSEDGYLYEDEIADLMDLRQACRTPSRDEAGVELLMTYFIQLGF
VESRFFPPTRQMGLLFTWYDSLTGVPVSQQNLLLEKASVLFNTGALYTQIGTRCDRQTQAGLESAIDAFQRAAGVLNYLKDTFTHTPSYD
MSPAMLSVLVKMMLAQAQESVFEKISLPGIRNEFFMLVKVAQEAAKVGEVYQQLHAAMSQAPVKENIPYSWASLACVKAHHYAALAHYFT
AILLIDHQVKPGTDLDHQEKCLSQLYDHMPEGLTPLATLKNDQQRRQLGKSHLRRAMAHHEESVREASLCKKLRSIEVLQKVLCAAQERS
RLTYAQHQEEDDLLNLIDAPSVVAKTEQEVDIILPQFSKLTVTDFFQKLGPLSVFSANKRWTPPRSIRFTAEEGDLGFTLRGNAPVQVHF
LDPYCSASVAGAREGDYIVSIQLVDCKWLTLSEVMKLLKSFGEDEIEMKVVSLLDSTSSMVFYQRADMAIGSLTINEERSEIVDFSVPFV
ETGISVMVARSNGTVSPSAFLEPYSPAVWVMMFVMCLTVVAVTVFIFEYLSPVGYNRSLATGKRPGGSTFTIGKSIWLLWALVFNNSVPV
ENPRGTTSKIMVLVWAFFAVIFLASYTANLAAFMIQEEYVDTVSGLSDRKFQRPQEQYPPLKFGTVPNGSTEKNIRSNYPDMHSYMVRYN
QPRVEEALTQLKAGKLDAFIYDAAVLNYMARKDEGCKLVTIGSGKVFATTGYGIALHKGSRWKRPIDLALLQFLGDDEIEMLERLWLSGI
CHNDKIEVMSSKLDIDNMAGVFYMLLVAMGLSLLVFAWEHLVYWRLRHCLGPTHRMDFLLAFSRGMYSCCSAEAAPPPAKPPPPPQPLPS
PAYPAPRPAPGPAPFVPRERASVDRWRRTKGAGPPGGAGLADGFHRYYGPIEPQGLGLGLGEARAAPRGAAGRPLSPPAAQPPQKPPPSY
FAIVRDKEPAEPPAGAFPGFPSPPAPPAAAATAVGPPLCRLAFEDESPPAPARWPRSDPESQPLLGPGAGGAGGTGGAGGGAPAAPPPCR
AAPPPCPYLDLEPSPSDSEDSESLGGASLGGLEPWWFADFPYPYAERLGPPPGRYWSVDKLGGWRAGSWDYLPPRSGPAAWHCRHCASLE
LLPPPRHLSCSHDGLDGGWWAPPPPPWAAGPLPRRRARCGCPRSHPHRPRASHRTPAAAAPHHHRHRRAAGGWDLPPPAPTSRSLEDLSS

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Fusion Protein Functional Features


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/chr19:33481420/chr19:48919259)
- 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
.GRIN2D

O15399

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Component of NMDA receptor complexes that function as heterotetrameric, ligand-gated ion channels with high calcium permeability and voltage-dependent sensitivity to magnesium. Channel activation requires binding of the neurotransmitter glutamate to the epsilon subunit, glycine binding to the zeta subunit, plus membrane depolarization to eliminate channel inhibition by Mg(2+) (PubMed:9489750, PubMed:27616483, PubMed:26875626, PubMed:28126851). Sensitivity to glutamate and channel kinetics depend on the subunit composition (PubMed:9489750). {ECO:0000269|PubMed:26875626, ECO:0000269|PubMed:27616483, ECO:0000269|PubMed:28095420, ECO:0000269|PubMed:28126851, ECO:0000269|PubMed:9489750}.

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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneRHPN2chr19:33481419chr19:48919258ENST00000254260-1415111_460600.0687.0DomainBRO1
HgeneRHPN2chr19:33481419chr19:48919258ENST00000254260-141526_100600.0687.0DomainREM-1
HgeneRHPN2chr19:33481419chr19:48919258ENST00000254260-1415515_593600.0687.0DomainNote=PDZ
HgeneRHPN2chr19:33481420chr19:48919259ENST00000254260-1415111_460600.0687.0DomainBRO1
HgeneRHPN2chr19:33481420chr19:48919259ENST00000254260-141526_100600.0687.0DomainREM-1
HgeneRHPN2chr19:33481420chr19:48919259ENST00000254260-1415515_593600.0687.0DomainNote=PDZ
TgeneGRIN2Dchr19:33481419chr19:48919258ENST000002632695131035_1040527.01337.0Compositional biasNote=Poly-Ala
TgeneGRIN2Dchr19:33481419chr19:48919258ENST000002632695131209_1213527.01337.0Compositional biasNote=Poly-Pro
TgeneGRIN2Dchr19:33481419chr19:48919258ENST000002632695131244_1247527.01337.0Compositional biasNote=Poly-Ala
TgeneGRIN2Dchr19:33481419chr19:48919258ENST00000263269513908_916527.01337.0Compositional biasNote=Poly-Pro
TgeneGRIN2Dchr19:33481420chr19:48919259ENST000002632695131035_1040527.01337.0Compositional biasNote=Poly-Ala
TgeneGRIN2Dchr19:33481420chr19:48919259ENST000002632695131209_1213527.01337.0Compositional biasNote=Poly-Pro
TgeneGRIN2Dchr19:33481420chr19:48919259ENST000002632695131244_1247527.01337.0Compositional biasNote=Poly-Ala
TgeneGRIN2Dchr19:33481420chr19:48919259ENST00000263269513908_916527.01337.0Compositional biasNote=Poly-Pro
TgeneGRIN2Dchr19:33481419chr19:48919258ENST000002632695131334_1336527.01337.0MotifPDZ-binding
TgeneGRIN2Dchr19:33481420chr19:48919259ENST000002632695131334_1336527.01337.0MotifPDZ-binding
TgeneGRIN2Dchr19:33481419chr19:48919258ENST00000263269513539_541527.01337.0RegionGlutamate binding
TgeneGRIN2Dchr19:33481419chr19:48919258ENST00000263269513631_650527.01337.0RegionPore-forming
TgeneGRIN2Dchr19:33481419chr19:48919258ENST00000263269513717_718527.01337.0RegionGlutamate binding
TgeneGRIN2Dchr19:33481420chr19:48919259ENST00000263269513539_541527.01337.0RegionGlutamate binding
TgeneGRIN2Dchr19:33481420chr19:48919259ENST00000263269513631_650527.01337.0RegionPore-forming
TgeneGRIN2Dchr19:33481420chr19:48919259ENST00000263269513717_718527.01337.0RegionGlutamate binding
TgeneGRIN2Dchr19:33481419chr19:48919258ENST00000263269513604_630527.01337.0Topological domainCytoplasmic
TgeneGRIN2Dchr19:33481419chr19:48919258ENST00000263269513651_657527.01337.0Topological domainCytoplasmic
TgeneGRIN2Dchr19:33481419chr19:48919258ENST00000263269513674_844527.01337.0Topological domainExtracellular
TgeneGRIN2Dchr19:33481419chr19:48919258ENST00000263269513865_1336527.01337.0Topological domainCytoplasmic
TgeneGRIN2Dchr19:33481420chr19:48919259ENST00000263269513604_630527.01337.0Topological domainCytoplasmic
TgeneGRIN2Dchr19:33481420chr19:48919259ENST00000263269513651_657527.01337.0Topological domainCytoplasmic
TgeneGRIN2Dchr19:33481420chr19:48919259ENST00000263269513674_844527.01337.0Topological domainExtracellular
TgeneGRIN2Dchr19:33481420chr19:48919259ENST00000263269513865_1336527.01337.0Topological domainCytoplasmic
TgeneGRIN2Dchr19:33481419chr19:48919258ENST00000263269513585_603527.01337.0TransmembraneHelical
TgeneGRIN2Dchr19:33481419chr19:48919258ENST00000263269513658_673527.01337.0TransmembraneHelical
TgeneGRIN2Dchr19:33481419chr19:48919258ENST00000263269513845_864527.01337.0TransmembraneHelical
TgeneGRIN2Dchr19:33481420chr19:48919259ENST00000263269513585_603527.01337.0TransmembraneHelical
TgeneGRIN2Dchr19:33481420chr19:48919259ENST00000263269513658_673527.01337.0TransmembraneHelical
TgeneGRIN2Dchr19:33481420chr19:48919259ENST00000263269513845_864527.01337.0TransmembraneHelical

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneRHPN2chr19:33481419chr19:48919258ENST00000254260-1415623_626600.0687.0Compositional biasNote=Poly-Asp
HgeneRHPN2chr19:33481420chr19:48919259ENST00000254260-1415623_626600.0687.0Compositional biasNote=Poly-Asp
TgeneGRIN2Dchr19:33481419chr19:48919258ENST00000263269513281_286527.01337.0Compositional biasNote=Poly-Gly
TgeneGRIN2Dchr19:33481420chr19:48919259ENST00000263269513281_286527.01337.0Compositional biasNote=Poly-Gly
TgeneGRIN2Dchr19:33481419chr19:48919258ENST0000026326951328_584527.01337.0Topological domainExtracellular
TgeneGRIN2Dchr19:33481420chr19:48919259ENST0000026326951328_584527.01337.0Topological domainExtracellular


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Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
RHPN2
GRIN2D


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs to RHPN2-GRIN2D


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to RHPN2-GRIN2D


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource