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Fusion gene ID: 15440 |
FusionGeneSummary for GRIN2B_MYF5 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: GRIN2B_MYF5 | Fusion gene ID: 15440 | Hgene | Tgene | Gene symbol | GRIN2B | MYF5 | Gene ID | 2904 | 4617 |
| Gene name | glutamate ionotropic receptor NMDA type subunit 2B | myogenic factor 5 | |
| Synonyms | EIEE27|GluN2B|MRD6|NMDAR2B|NR2B|NR3|hNR3 | bHLHc2 | |
| Cytomap | 12p13.1 | 12q21.31 | |
| Type of gene | protein-coding | protein-coding | |
| Description | glutamate receptor ionotropic, NMDA 2BN-methyl D-aspartate receptor subtype 2BN-methyl-D-aspartate receptor subunit 3glutamate [NMDA] receptor subunit epsilon-2glutamate receptor subunit epsilon-2glutamate receptor, ionotropic, N-methyl D-aspartate 2 | myogenic factor 5class C basic helix-loop-helix protein 2myf-5 | |
| Modification date | 20180527 | 20180523 | |
| UniProtAcc | Q13224 | P13349 | |
| Ensembl transtripts involved in fusion gene | ENST00000609686, | ENST00000228644, | |
| Fusion gene scores | * DoF score | 2 X 1 X 1=2 | 2 X 1 X 1=2 |
| # samples | 1 | 2 | |
| ** MAII score | log2(1/2*10)=2.32192809488736 | log2(2/2*10)=3.32192809488736 | |
| Context | PubMed: GRIN2B [Title/Abstract] AND MYF5 [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 |
| Hgene | GRIN2B | GO:0045471 | response to ethanol | 18445116 |
| Hgene | GRIN2B | 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 | LD | SARC | TCGA-DX-A1KZ-01A | GRIN2B | chr12 | 14132862 | - | MYF5 | chr12 | 81110819 | + |
| * 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 |
| 5UTR-5UTR | ENST00000609686 | ENST00000228644 | GRIN2B | chr12 | 14132862 | - | MYF5 | chr12 | 81110819 | + |
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FusionProtFeatures for GRIN2B_MYF5 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| GRIN2B | MYF5 |
| 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:28126851). Sensitivity to glutamate andchannel kinetics depend on the subunit composition(PubMed:8768735, PubMed:26875626). In concert with DAPK1 atextrasynaptic sites, acts as a central mediator for stroke damage.Its phosphorylation at Ser-1303 by DAPK1 enhances synaptic NMDAreceptor channel activity inducing injurious Ca2+ influx throughthem, resulting in an irreversible neuronal death. Contributes toneural pattern formation in the developing brain. Plays a role inlong-term depression (LTD) of hippocampus membrane currents and insynaptic plasticity (By similarity).{ECO:0000250|UniProtKB:Q01097, ECO:0000269|PubMed:26875626,ECO:0000269|PubMed:26919761, ECO:0000269|PubMed:28126851,ECO:0000269|PubMed:8768735}. | Acts as a transcriptional activator that promotestranscription of muscle-specific target genes and plays a role inmuscle differentiation. Together with MYOG and MYOD1, co-occupiesmuscle-specific gene promoter core region during myogenesis.Induces fibroblasts to differentiate into myoblasts. Probablesequence specific DNA-binding protein. |
| 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 GRIN2B_MYF5 |
| 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 GRIN2B_MYF5 |
| 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 |
| GRIN2B | ARHGAP32, DLG3, DLG4, EXOC4, EXOC3, EXOC7, DLG2, DLG1, ERBB2IP, PARK2, ACTN2, CAMK2A, GRIN1, GNB2L1, FYN, LIN7B, LIN7A, MIB2, KDM5B, SPTAN1, CAMK2G, PRKCA, TP53, CAPN1 | MYF5 | MDFI, ID1, ID2, TCF3 |
| - 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 GRIN2B_MYF5 |
| 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 |
| Hgene | GRIN2B | Q13224 | DB00454 | Pethidine | Glutamate receptor ionotropic, NMDA 2B | small molecule | approved |
| Hgene | GRIN2B | Q13224 | DB00502 | Haloperidol | Glutamate receptor ionotropic, NMDA 2B | small molecule | approved |
| Hgene | GRIN2B | Q13224 | DB00949 | Felbamate | Glutamate receptor ionotropic, NMDA 2B | small molecule | approved |
| Hgene | GRIN2B | Q13224 | DB01043 | Memantine | Glutamate receptor ionotropic, NMDA 2B | small molecule | approved|investigational |
| Hgene | GRIN2B | Q13224 | DB06151 | Acetylcysteine | Glutamate receptor ionotropic, NMDA 2B | small molecule | approved|investigational |
| Hgene | GRIN2B | Q13224 | DB08954 | Ifenprodil | Glutamate receptor ionotropic, NMDA 2B | small molecule | approved|investigational|withdrawn |
| Hgene | GRIN2B | Q13224 | DB00142 | Glutamic Acid | Glutamate receptor ionotropic, NMDA 2B | small molecule | approved|nutraceutical |
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RelatedDiseases for GRIN2B_MYF5 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | GRIN2B | C0001973 | Alcoholic Intoxication, Chronic | 5 | PSYGENET |
| Hgene | GRIN2B | C0005586 | Bipolar Disorder | 5 | PSYGENET |
| Hgene | GRIN2B | C0011570 | Mental Depression | 5 | PSYGENET |
| Hgene | GRIN2B | C0011581 | Depressive disorder | 5 | PSYGENET |
| Hgene | GRIN2B | C3151411 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 | 3 | UNIPROT |
| Hgene | GRIN2B | C0014544 | Epilepsy | 1 | CTD_human;HPO |
| Hgene | GRIN2B | C0020429 | Hyperalgesia | 1 | CTD_human |
| Hgene | GRIN2B | C0020649 | Hypotension | 1 | CTD_human |
| Hgene | GRIN2B | C0036341 | Schizophrenia | 1 | CTD_human |
| Hgene | GRIN2B | C0178417 | Anhedonia | 1 | PSYGENET |
| Hgene | GRIN2B | C1510586 | Autism Spectrum Disorders | 1 | CTD_human |
| Hgene | GRIN2B | C3714756 | Intellectual Disability | 1 | CTD_human;HPO |
| Hgene | GRIN2B | C4015316 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27 | 1 | UNIPROT |
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