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Fusion gene ID: 32866 |
FusionGeneSummary for SCN2B_PLXNB3 |
Fusion gene summary |
Fusion gene information | Fusion gene name: SCN2B_PLXNB3 | Fusion gene ID: 32866 | Hgene | Tgene | Gene symbol | SCN2B | PLXNB3 | Gene ID | 6327 | 5365 |
Gene name | sodium voltage-gated channel beta subunit 2 | plexin B3 | |
Synonyms | ATFB14 | PLEXB3|PLEXR|PLXN6 | |
Cytomap | 11q23.3 | Xq28 | |
Type of gene | protein-coding | protein-coding | |
Description | sodium channel subunit beta-2neuronal voltage-gated sodium channel beta 2 subunitsodium channel, voltage gated, type II beta subunitsodium channel, voltage-gated, type II, beta polypeptide | plexin-B3plexin 6 | |
Modification date | 20180519 | 20180523 | |
UniProtAcc | O60939 | Q9ULL4 | |
Ensembl transtripts involved in fusion gene | ENST00000278947, | ENST00000538966, ENST00000361971, ENST00000538543, ENST00000538776, ENST00000538282, ENST00000485980, | |
Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 3 X 3 X 1=9 |
# samples | 1 | 4 | |
** MAII score | log2(1/1*10)=3.32192809488736 | log2(4/9*10)=2.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: SCN2B [Title/Abstract] AND PLXNB3 [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 | SCN2B | GO:0035725 | sodium ion transmembrane transport | 19808477 |
Hgene | SCN2B | GO:2000649 | regulation of sodium ion transmembrane transporter activity | 19808477 |
Tgene | PLXNB3 | GO:0007156 | homophilic cell adhesion via plasma membrane adhesion molecules | 16122393 |
Tgene | PLXNB3 | GO:0007162 | negative regulation of cell adhesion | 15218527 |
Tgene | PLXNB3 | GO:0010976 | positive regulation of neuron projection development | 16122393 |
Tgene | PLXNB3 | GO:0050918 | positive chemotaxis | 15218527 |
Tgene | PLXNB3 | GO:0060326 | cell chemotaxis | 15218527 |
Tgene | PLXNB3 | GO:0071526 | semaphorin-plexin signaling pathway | 15218527 |
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 |
ChiTaRS3.1 | DA098743 | SCN2B | chr11 | 118047174 | - | PLXNB3 | chrX | 153045117 | + |
* 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 |
intron-intron | ENST00000278947 | ENST00000538966 | SCN2B | chr11 | 118047174 | - | PLXNB3 | chrX | 153045117 | + |
intron-intron | ENST00000278947 | ENST00000361971 | SCN2B | chr11 | 118047174 | - | PLXNB3 | chrX | 153045117 | + |
intron-intron | ENST00000278947 | ENST00000538543 | SCN2B | chr11 | 118047174 | - | PLXNB3 | chrX | 153045117 | + |
intron-intron | ENST00000278947 | ENST00000538776 | SCN2B | chr11 | 118047174 | - | PLXNB3 | chrX | 153045117 | + |
intron-intron | ENST00000278947 | ENST00000538282 | SCN2B | chr11 | 118047174 | - | PLXNB3 | chrX | 153045117 | + |
intron-intron | ENST00000278947 | ENST00000485980 | SCN2B | chr11 | 118047174 | - | PLXNB3 | chrX | 153045117 | + |
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FusionProtFeatures for SCN2B_PLXNB3 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
SCN2B | PLXNB3 |
Crucial in the assembly, expression, and functionalmodulation of the heterotrimeric complex of the sodium channel.The subunit beta-2 causes an increase in the plasma membranesurface area and in its folding into microvilli. Interacts withTNR may play a crucial role in clustering and regulation ofactivity of sodium channels at nodes of Ranvier (By similarity).{ECO:0000250}. | Receptor for SEMA5A that plays a role in axon guidance,invasive growth and cell migration. Stimulates neurite outgrowthand mediates Ca(2+)/Mg(2+)-dependent cell aggregation. In gliomacells, SEMA5A stimulation of PLXNB3 results in the disassembly ofF-actin stress fibers, disruption of focal adhesions and cellularcollapse as well as inhibition of cell migration and invasionthrough ARHGDIA-mediated inactivation of RAC1.{ECO:0000269|PubMed:15218527, ECO:0000269|PubMed:20696765,ECO:0000269|PubMed:21706053}. |
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 SCN2B_PLXNB3 |
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 SCN2B_PLXNB3 |
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 |
- 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 SCN2B_PLXNB3 |
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 | SCN2B | O60939 | DB00909 | Zonisamide | Sodium channel subunit beta-2 | small molecule | approved|investigational |
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RelatedDiseases for SCN2B_PLXNB3 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | SCN2B | C3809312 | ATRIAL FIBRILLATION, FAMILIAL, 14 | 1 | UNIPROT |