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Fusion gene ID: 33745 |
FusionGeneSummary for SHB_GRIN2A |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SHB_GRIN2A | Fusion gene ID: 33745 | Hgene | Tgene | Gene symbol | SHB | GRIN2A | Gene ID | 6461 | 2903 |
| Gene name | SH2 domain containing adaptor protein B | glutamate ionotropic receptor NMDA type subunit 2A | |
| Synonyms | bA3J10.2 | EPND|FESD|GluN2A|LKS|NMDAR2A|NR2A | |
| Cytomap | 9p13.1 | 16p13.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | SH2 domain-containing adapter protein BSHB (Src homology 2 domain containing) adaptor protein BSHB adaptor protein (a Src homology 2 protein)Src homology 2 domain containing adaptor protein B | glutamate 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 date | 20180523 | 20180523 | |
| UniProtAcc | Q15464 | Q12879 | |
| Ensembl transtripts involved in fusion gene | ENST00000377707, ENST00000377700, | ENST00000396573, ENST00000562109, ENST00000535259, ENST00000404927, ENST00000330684, ENST00000396575, ENST00000566670, | |
| Fusion gene scores | * DoF score | 12 X 7 X 8=672 | 5 X 4 X 5=100 |
| # samples | 13 | 5 | |
| ** MAII score | log2(13/672*10)=-2.36994960975031 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/100*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: SHB [Title/Abstract] AND GRIN2A [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) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Tgene | GRIN2A | GO:0045471 | response to ethanol | 18445116 |
| Tgene | GRIN2A | GO:0097553 | calcium ion transmembrane import into cytosol | 26875626 |
| 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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| TCGA | RV | LGG | TCGA-CS-5397-01A | SHB | chr9 | 37955880 | - | GRIN2A | chr16 | 9943818 | - |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| 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. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| Frame-shift | ENST00000377707 | ENST00000396573 | SHB | chr9 | 37955880 | - | GRIN2A | chr16 | 9943818 | - |
| Frame-shift | ENST00000377707 | ENST00000562109 | SHB | chr9 | 37955880 | - | GRIN2A | chr16 | 9943818 | - |
| Frame-shift | ENST00000377707 | ENST00000535259 | SHB | chr9 | 37955880 | - | GRIN2A | chr16 | 9943818 | - |
| Frame-shift | ENST00000377707 | ENST00000404927 | SHB | chr9 | 37955880 | - | GRIN2A | chr16 | 9943818 | - |
| Frame-shift | ENST00000377707 | ENST00000330684 | SHB | chr9 | 37955880 | - | GRIN2A | chr16 | 9943818 | - |
| Frame-shift | ENST00000377707 | ENST00000396575 | SHB | chr9 | 37955880 | - | GRIN2A | chr16 | 9943818 | - |
| 5CDS-intron | ENST00000377707 | ENST00000566670 | SHB | chr9 | 37955880 | - | GRIN2A | chr16 | 9943818 | - |
| intron-3CDS | ENST00000377700 | ENST00000396573 | SHB | chr9 | 37955880 | - | GRIN2A | chr16 | 9943818 | - |
| intron-3CDS | ENST00000377700 | ENST00000562109 | SHB | chr9 | 37955880 | - | GRIN2A | chr16 | 9943818 | - |
| intron-3CDS | ENST00000377700 | ENST00000535259 | SHB | chr9 | 37955880 | - | GRIN2A | chr16 | 9943818 | - |
| intron-3CDS | ENST00000377700 | ENST00000404927 | SHB | chr9 | 37955880 | - | GRIN2A | chr16 | 9943818 | - |
| intron-3CDS | ENST00000377700 | ENST00000330684 | SHB | chr9 | 37955880 | - | GRIN2A | chr16 | 9943818 | - |
| intron-3CDS | ENST00000377700 | ENST00000396575 | SHB | chr9 | 37955880 | - | GRIN2A | chr16 | 9943818 | - |
| intron-intron | ENST00000377700 | ENST00000566670 | SHB | chr9 | 37955880 | - | GRIN2A | chr16 | 9943818 | - |
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FusionProtFeatures for SHB_GRIN2A |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SHB | GRIN2A |
| Adapter protein which regulates several signaltransduction cascades by linking activated receptors to downstreamsignaling components. May play a role in angiogenesis byregulating FGFR1, VEGFR2 and PDGFR signaling. May also play a rolein T-cell antigen receptor/TCR signaling, interleukin-2 signaling,apoptosis and neuronal cells differentiation by mediating basic-FGF and NGF-induced signaling cascades. May also regulate IRS1 andIRS2 signaling in insulin-producing cells.{ECO:0000269|PubMed:10828022, ECO:0000269|PubMed:10837138,ECO:0000269|PubMed:12084069, ECO:0000269|PubMed:12464388,ECO:0000269|PubMed:12520086, ECO:0000269|PubMed:15026417,ECO:0000269|PubMed:15919073, ECO:0000269|PubMed:8806685,ECO:0000269|PubMed:9484780, ECO:0000269|PubMed:9751119}. | Component of NMDA receptor complexes that function asheterotetrameric, ligand-gated ion channels with high calciumpermeability and voltage-dependent sensitivity to magnesium.Channel activation requires binding of the neurotransmitterglutamate to the epsilon subunit, glycine binding to the zetasubunit, plus membrane depolarization to eliminate channelinhibition by Mg(2+) (PubMed:8768735, PubMed:26919761,PubMed:26875626, PubMed:28105280). Sensitivity to glutamate andchannel kinetics depend on the subunit composition; channelscontaining GRIN1 and GRIN2A have higher sensitivity to glutamateand faster kinetics than channels formed by GRIN1 and GRIN2B(PubMed:26919761, PubMed:26875626). Contributes to the slow phaseof excitatory postsynaptic current, long-term synapticpotentiation, and learning (By similarity).{ECO:0000250|UniProtKB:P35436, ECO:0000250|UniProtKB:Q00959,ECO:0000269|PubMed:26875626, ECO:0000269|PubMed:26919761,ECO:0000269|PubMed:28105280, ECO:0000269|PubMed:8768735}. |
| Retention 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 . * 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. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| - In-frame and not-retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for SHB_GRIN2A |
| 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 SHB_GRIN2A |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| SHB | KDR, IL2RB, IL2RG, JAK1, JAK3, LAT, PLCG1, LCP2, ZAP70, VAV1, GRB2, CRK, EPS8, SRC, PIK3R1, FGFR1, ABL1, NCK2, CDH1, WDYHV1, TRIM25 | GRIN2A | DLG1, SRC, FYN, PTK2B, GRIN3B, PTPN4, DLG4, DLG3, DLG2, DLGAP1, GRIN1, SPTAN1, NEDD4, AKT1 |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for SHB_GRIN2A |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Tgene | GRIN2A | Q12879 | DB00454 | Pethidine | Glutamate receptor ionotropic, NMDA 2A | small molecule | approved |
| Tgene | GRIN2A | Q12879 | DB00949 | Felbamate | Glutamate receptor ionotropic, NMDA 2A | small molecule | approved |
| Tgene | GRIN2A | Q12879 | DB01043 | Memantine | Glutamate receptor ionotropic, NMDA 2A | small molecule | approved|investigational |
| Tgene | GRIN2A | Q12879 | DB06151 | Acetylcysteine | Glutamate receptor ionotropic, NMDA 2A | small molecule | approved|investigational |
| Tgene | GRIN2A | Q12879 | DB00142 | Glutamic Acid | Glutamate receptor ionotropic, NMDA 2A | small molecule | approved|nutraceutical |
| Tgene | GRIN2A | Q12879 | DB00145 | Glycine | Glutamate receptor ionotropic, NMDA 2A | small molecule | approved|nutraceutical|vet_approved |
| Tgene | GRIN2A | Q12879 | DB01159 | Halothane | Glutamate receptor ionotropic, NMDA 2A | small molecule | approved|vet_approved |
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RelatedDiseases for SHB_GRIN2A |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | GRIN2A | C3806402 | EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION | 7 | ORPHANET;UNIPROT |
| Tgene | GRIN2A | C0005586 | Bipolar Disorder | 5 | PSYGENET |
| Tgene | GRIN2A | C0036341 | Schizophrenia | 5 | PSYGENET |
| Tgene | GRIN2A | C0001973 | Alcoholic Intoxication, Chronic | 4 | PSYGENET |
| Tgene | GRIN2A | C0011570 | Mental Depression | 4 | PSYGENET |
| Tgene | GRIN2A | C0011581 | Depressive disorder | 4 | PSYGENET |
| Tgene | GRIN2A | C0525045 | Mood Disorders | 3 | PSYGENET |
| Tgene | GRIN2A | C0014544 | Epilepsy | 2 | CTD_human;HPO |
| Tgene | GRIN2A | C0004352 | Autistic Disorder | 1 | CTD_human |
| Tgene | GRIN2A | C0009404 | Colorectal Neoplasms | 1 | CTD_human |
| Tgene | GRIN2A | C0023014 | Language Development Disorders | 1 | CTD_human |
| Tgene | GRIN2A | C0025202 | melanoma | 1 | CTD_human |
| Tgene | GRIN2A | C0026552 | Morphine Dependence | 1 | CTD_human |
| Tgene | GRIN2A | C0037822 | Speech Disorders | 1 | CTD_human |
| Tgene | GRIN2A | C0038587 | Substance Withdrawal Syndrome | 1 | CTD_human |
| Tgene | GRIN2A | C0282512 | Landau-Kleffner Syndrome | 1 | CTD_human;ORPHANET |
| Tgene | GRIN2A | C0376532 | Epilepsy, Rolandic | 1 | CTD_human |
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