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Fusion gene ID: 32872 |
FusionGeneSummary for SCN8A_KCNC2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SCN8A_KCNC2 | Fusion gene ID: 32872 | Hgene | Tgene | Gene symbol | SCN8A | KCNC2 | Gene ID | 6334 | 3747 |
| Gene name | sodium voltage-gated channel alpha subunit 8 | potassium voltage-gated channel subfamily C member 2 | |
| Synonyms | BFIS5|CERIII|CIAT|EIEE13|MED|NaCh6|Nav1.6|PN4 | KV3.2 | |
| Cytomap | 12q13.13 | 12q21.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | sodium channel protein type 8 subunit alphahNa6/Scn8a voltage-gated sodium channelsodium channel, voltage gated, type VIII, alpha subunitvoltage-gated sodium channel subunit alpha Nav1.6voltage-gated sodium channel type VIII alpha protein | potassium voltage-gated channel subfamily C member 2potassium channel, voltage gated Shaw related subfamily C, member 2potassium voltage-gated channel, Shaw-related subfamily, member 2shaw-like potassium channelvoltage-gated potassium channel Kv3.2 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q9UQD0 | Q96PR1 | |
| Ensembl transtripts involved in fusion gene | ENST00000546961, ENST00000550891, ENST00000354534, ENST00000545061, | ENST00000550433, ENST00000548513, ENST00000549446, ENST00000298972, ENST00000341669, ENST00000350228, ENST00000540018, ENST00000393288, ENST00000548243, | |
| Fusion gene scores | * DoF score | 6 X 7 X 5=210 | 13 X 4 X 5=260 |
| # samples | 6 | 12 | |
| ** MAII score | log2(6/210*10)=-1.8073549220576 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(12/260*10)=-1.11547721741994 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: SCN8A [Title/Abstract] AND KCNC2 [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 |
| 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 | BLCA | TCGA-4Z-AA7W-01A | SCN8A | chr12 | 52093575 | + | KCNC2 | chr12 | 75445097 | - |
| TCGA | LD | BLCA | TCGA-4Z-AA7W-01A | SCN8A | chr12 | 52082880 | + | KCNC2 | chr12 | 75445097 | - |
| * 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-3CDS | ENST00000546961 | ENST00000550433 | SCN8A | chr12 | 52093575 | + | KCNC2 | chr12 | 75445097 | - |
| intron-3CDS | ENST00000546961 | ENST00000548513 | SCN8A | chr12 | 52093575 | + | KCNC2 | chr12 | 75445097 | - |
| intron-3CDS | ENST00000546961 | ENST00000549446 | SCN8A | chr12 | 52093575 | + | KCNC2 | chr12 | 75445097 | - |
| intron-3CDS | ENST00000546961 | ENST00000298972 | SCN8A | chr12 | 52093575 | + | KCNC2 | chr12 | 75445097 | - |
| intron-3CDS | ENST00000546961 | ENST00000341669 | SCN8A | chr12 | 52093575 | + | KCNC2 | chr12 | 75445097 | - |
| intron-3CDS | ENST00000546961 | ENST00000350228 | SCN8A | chr12 | 52093575 | + | KCNC2 | chr12 | 75445097 | - |
| intron-3CDS | ENST00000546961 | ENST00000540018 | SCN8A | chr12 | 52093575 | + | KCNC2 | chr12 | 75445097 | - |
| intron-3CDS | ENST00000546961 | ENST00000393288 | SCN8A | chr12 | 52093575 | + | KCNC2 | chr12 | 75445097 | - |
| intron-intron | ENST00000546961 | ENST00000548243 | SCN8A | chr12 | 52093575 | + | KCNC2 | chr12 | 75445097 | - |
| Frame-shift | ENST00000550891 | ENST00000550433 | SCN8A | chr12 | 52093575 | + | KCNC2 | chr12 | 75445097 | - |
| Frame-shift | ENST00000550891 | ENST00000548513 | SCN8A | chr12 | 52093575 | + | KCNC2 | chr12 | 75445097 | - |
| Frame-shift | ENST00000550891 | ENST00000549446 | SCN8A | chr12 | 52093575 | + | KCNC2 | chr12 | 75445097 | - |
| Frame-shift | ENST00000550891 | ENST00000298972 | SCN8A | chr12 | 52093575 | + | KCNC2 | chr12 | 75445097 | - |
| Frame-shift | ENST00000550891 | ENST00000341669 | SCN8A | chr12 | 52093575 | + | KCNC2 | chr12 | 75445097 | - |
| Frame-shift | ENST00000550891 | ENST00000350228 | SCN8A | chr12 | 52093575 | + | KCNC2 | chr12 | 75445097 | - |
| Frame-shift | ENST00000550891 | ENST00000540018 | SCN8A | chr12 | 52093575 | + | KCNC2 | chr12 | 75445097 | - |
| Frame-shift | ENST00000550891 | ENST00000393288 | SCN8A | chr12 | 52093575 | + | KCNC2 | chr12 | 75445097 | - |
| 5CDS-intron | ENST00000550891 | ENST00000548243 | SCN8A | chr12 | 52093575 | + | KCNC2 | chr12 | 75445097 | - |
| Frame-shift | ENST00000354534 | ENST00000550433 | SCN8A | chr12 | 52093575 | + | KCNC2 | chr12 | 75445097 | - |
| Frame-shift | ENST00000354534 | ENST00000548513 | SCN8A | chr12 | 52093575 | + | KCNC2 | chr12 | 75445097 | - |
| Frame-shift | ENST00000354534 | ENST00000549446 | SCN8A | chr12 | 52093575 | + | KCNC2 | chr12 | 75445097 | - |
| Frame-shift | ENST00000354534 | ENST00000298972 | SCN8A | chr12 | 52093575 | + | KCNC2 | chr12 | 75445097 | - |
| Frame-shift | ENST00000354534 | ENST00000341669 | SCN8A | chr12 | 52093575 | + | KCNC2 | chr12 | 75445097 | - |
| Frame-shift | ENST00000354534 | ENST00000350228 | SCN8A | chr12 | 52093575 | + | KCNC2 | chr12 | 75445097 | - |
| Frame-shift | ENST00000354534 | ENST00000540018 | SCN8A | chr12 | 52093575 | + | KCNC2 | chr12 | 75445097 | - |
| Frame-shift | ENST00000354534 | ENST00000393288 | SCN8A | chr12 | 52093575 | + | KCNC2 | chr12 | 75445097 | - |
| 5CDS-intron | ENST00000354534 | ENST00000548243 | SCN8A | chr12 | 52093575 | + | KCNC2 | chr12 | 75445097 | - |
| Frame-shift | ENST00000545061 | ENST00000550433 | SCN8A | chr12 | 52093575 | + | KCNC2 | chr12 | 75445097 | - |
| Frame-shift | ENST00000545061 | ENST00000548513 | SCN8A | chr12 | 52093575 | + | KCNC2 | chr12 | 75445097 | - |
| Frame-shift | ENST00000545061 | ENST00000549446 | SCN8A | chr12 | 52093575 | + | KCNC2 | chr12 | 75445097 | - |
| Frame-shift | ENST00000545061 | ENST00000298972 | SCN8A | chr12 | 52093575 | + | KCNC2 | chr12 | 75445097 | - |
| Frame-shift | ENST00000545061 | ENST00000341669 | SCN8A | chr12 | 52093575 | + | KCNC2 | chr12 | 75445097 | - |
| Frame-shift | ENST00000545061 | ENST00000350228 | SCN8A | chr12 | 52093575 | + | KCNC2 | chr12 | 75445097 | - |
| Frame-shift | ENST00000545061 | ENST00000540018 | SCN8A | chr12 | 52093575 | + | KCNC2 | chr12 | 75445097 | - |
| Frame-shift | ENST00000545061 | ENST00000393288 | SCN8A | chr12 | 52093575 | + | KCNC2 | chr12 | 75445097 | - |
| 5CDS-intron | ENST00000545061 | ENST00000548243 | SCN8A | chr12 | 52093575 | + | KCNC2 | chr12 | 75445097 | - |
| intron-3CDS | ENST00000546961 | ENST00000550433 | SCN8A | chr12 | 52082880 | + | KCNC2 | chr12 | 75445097 | - |
| intron-3CDS | ENST00000546961 | ENST00000548513 | SCN8A | chr12 | 52082880 | + | KCNC2 | chr12 | 75445097 | - |
| intron-3CDS | ENST00000546961 | ENST00000549446 | SCN8A | chr12 | 52082880 | + | KCNC2 | chr12 | 75445097 | - |
| intron-3CDS | ENST00000546961 | ENST00000298972 | SCN8A | chr12 | 52082880 | + | KCNC2 | chr12 | 75445097 | - |
| intron-3CDS | ENST00000546961 | ENST00000341669 | SCN8A | chr12 | 52082880 | + | KCNC2 | chr12 | 75445097 | - |
| intron-3CDS | ENST00000546961 | ENST00000350228 | SCN8A | chr12 | 52082880 | + | KCNC2 | chr12 | 75445097 | - |
| intron-3CDS | ENST00000546961 | ENST00000540018 | SCN8A | chr12 | 52082880 | + | KCNC2 | chr12 | 75445097 | - |
| intron-3CDS | ENST00000546961 | ENST00000393288 | SCN8A | chr12 | 52082880 | + | KCNC2 | chr12 | 75445097 | - |
| intron-intron | ENST00000546961 | ENST00000548243 | SCN8A | chr12 | 52082880 | + | KCNC2 | chr12 | 75445097 | - |
| Frame-shift | ENST00000550891 | ENST00000550433 | SCN8A | chr12 | 52082880 | + | KCNC2 | chr12 | 75445097 | - |
| Frame-shift | ENST00000550891 | ENST00000548513 | SCN8A | chr12 | 52082880 | + | KCNC2 | chr12 | 75445097 | - |
| Frame-shift | ENST00000550891 | ENST00000549446 | SCN8A | chr12 | 52082880 | + | KCNC2 | chr12 | 75445097 | - |
| Frame-shift | ENST00000550891 | ENST00000298972 | SCN8A | chr12 | 52082880 | + | KCNC2 | chr12 | 75445097 | - |
| Frame-shift | ENST00000550891 | ENST00000341669 | SCN8A | chr12 | 52082880 | + | KCNC2 | chr12 | 75445097 | - |
| Frame-shift | ENST00000550891 | ENST00000350228 | SCN8A | chr12 | 52082880 | + | KCNC2 | chr12 | 75445097 | - |
| Frame-shift | ENST00000550891 | ENST00000540018 | SCN8A | chr12 | 52082880 | + | KCNC2 | chr12 | 75445097 | - |
| Frame-shift | ENST00000550891 | ENST00000393288 | SCN8A | chr12 | 52082880 | + | KCNC2 | chr12 | 75445097 | - |
| 5CDS-intron | ENST00000550891 | ENST00000548243 | SCN8A | chr12 | 52082880 | + | KCNC2 | chr12 | 75445097 | - |
| intron-3CDS | ENST00000354534 | ENST00000550433 | SCN8A | chr12 | 52082880 | + | KCNC2 | chr12 | 75445097 | - |
| intron-3CDS | ENST00000354534 | ENST00000548513 | SCN8A | chr12 | 52082880 | + | KCNC2 | chr12 | 75445097 | - |
| intron-3CDS | ENST00000354534 | ENST00000549446 | SCN8A | chr12 | 52082880 | + | KCNC2 | chr12 | 75445097 | - |
| intron-3CDS | ENST00000354534 | ENST00000298972 | SCN8A | chr12 | 52082880 | + | KCNC2 | chr12 | 75445097 | - |
| intron-3CDS | ENST00000354534 | ENST00000341669 | SCN8A | chr12 | 52082880 | + | KCNC2 | chr12 | 75445097 | - |
| intron-3CDS | ENST00000354534 | ENST00000350228 | SCN8A | chr12 | 52082880 | + | KCNC2 | chr12 | 75445097 | - |
| intron-3CDS | ENST00000354534 | ENST00000540018 | SCN8A | chr12 | 52082880 | + | KCNC2 | chr12 | 75445097 | - |
| intron-3CDS | ENST00000354534 | ENST00000393288 | SCN8A | chr12 | 52082880 | + | KCNC2 | chr12 | 75445097 | - |
| intron-intron | ENST00000354534 | ENST00000548243 | SCN8A | chr12 | 52082880 | + | KCNC2 | chr12 | 75445097 | - |
| intron-3CDS | ENST00000545061 | ENST00000550433 | SCN8A | chr12 | 52082880 | + | KCNC2 | chr12 | 75445097 | - |
| intron-3CDS | ENST00000545061 | ENST00000548513 | SCN8A | chr12 | 52082880 | + | KCNC2 | chr12 | 75445097 | - |
| intron-3CDS | ENST00000545061 | ENST00000549446 | SCN8A | chr12 | 52082880 | + | KCNC2 | chr12 | 75445097 | - |
| intron-3CDS | ENST00000545061 | ENST00000298972 | SCN8A | chr12 | 52082880 | + | KCNC2 | chr12 | 75445097 | - |
| intron-3CDS | ENST00000545061 | ENST00000341669 | SCN8A | chr12 | 52082880 | + | KCNC2 | chr12 | 75445097 | - |
| intron-3CDS | ENST00000545061 | ENST00000350228 | SCN8A | chr12 | 52082880 | + | KCNC2 | chr12 | 75445097 | - |
| intron-3CDS | ENST00000545061 | ENST00000540018 | SCN8A | chr12 | 52082880 | + | KCNC2 | chr12 | 75445097 | - |
| intron-3CDS | ENST00000545061 | ENST00000393288 | SCN8A | chr12 | 52082880 | + | KCNC2 | chr12 | 75445097 | - |
| intron-intron | ENST00000545061 | ENST00000548243 | SCN8A | chr12 | 52082880 | + | KCNC2 | chr12 | 75445097 | - |
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FusionProtFeatures for SCN8A_KCNC2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SCN8A | KCNC2 |
| Mediates the voltage-dependent sodium ion permeabilityof excitable membranes. Assuming opened or closed conformations inresponse to the voltage difference across the membrane, theprotein forms a sodium-selective channel through which Na(+) ionsmay pass in accordance with their electrochemical gradient. Inmacrophages and melanoma cells, isoform 5 may participate in thecontrol of podosome and invadopodia formation.{ECO:0000269|PubMed:19136557}. | Voltage-gated potassium channel that mediatestransmembrane potassium transport in excitable membranes,primarily in the brain. Contributes to the regulation of the fastaction potential repolarization and in sustained high-frequencyfiring in neurons of the central nervous system. Homotetramerchannels mediate delayed-rectifier voltage-dependent potassiumcurrents that activate rapidly at high-threshold voltages andinactivate slowly. Forms tetrameric channels through whichpotassium ions pass in accordance with their electrochemicalgradient. The channel alternates between opened and closedconformations in response to the voltage difference across themembrane (PubMed:15709110). Can form functional homotetrameric andheterotetrameric channels that contain variable proportions ofKCNC1, and possibly other family members as well; channelproperties depend on the type of alpha subunits that are part ofthe channel. Channel properties may be modulated either by theassociation with ancillary subunits, such as KCNE1, KCNE2 or KCNE3or indirectly by nitric oxide (NO) through a cGMP- and PKG-mediated signaling cascade, slowing channel activation anddeactivation of delayed rectifier potassium channels (Bysimilarity). Contributes to fire sustained trains of very briefaction potentials at high frequency in retinal ganglion cells,thalamocortical and suprachiasmatic nucleus (SCN) neurons and inhippocampal and neocortical interneurons (PubMed:15709110).Sustained maximal action potential firing frequency in inhibitoryhippocampal interneurons is negatively modulated by histamine H2receptor activation in a cAMP- and protein kinase (PKA)phosphorylation-dependent manner. Plays a role in maintaining thefidelity of synaptic transmission in neocortical GABAergicinterneurons by generating action potential (AP) repolarization atnerve terminals, thus reducing spike-evoked calcium influx andGABA neurotransmitter release. Required for long-rangesynchronization of gamma oscillations over distance in theneocortex. Contributes to the modulation of the circadian rhythmof spontaneous action potential firing in suprachiasmatic nucleus(SCN) neurons in a light-dependent manner (By similarity).{ECO:0000250|UniProtKB:P22462, ECO:0000250|UniProtKB:Q14B80,ECO:0000269|PubMed:15709110, ECO:0000305|PubMed:10414303,ECO:0000305|PubMed:11506885}. |
| 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 SCN8A_KCNC2 |
| 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 SCN8A_KCNC2 |
| 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 |
| SCN8A | NEDD4, FGF14 | KCNC2 | KCNC1 |
| - 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 SCN8A_KCNC2 |
| 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 | KCNC2 | Q96PR1 | DB06637 | Dalfampridine | Potassium voltage-gated channel subfamily C member 2 {ECO:0000312|HGNC:HGNC:6234} | small molecule | approved |
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RelatedDiseases for SCN8A_KCNC2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | SCN8A | C3281191 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13 | 9 | UNIPROT |
| Hgene | SCN8A | C0005586 | Bipolar Disorder | 2 | PSYGENET |
| Hgene | SCN8A | C0004134 | Ataxia | 1 | CTD_human |
| Hgene | SCN8A | C0007758 | Cerebellar Ataxia | 1 | CTD_human;HPO |
| Hgene | SCN8A | C0014544 | Epilepsy | 1 | CTD_human;HPO |
| Hgene | SCN8A | C0019372 | Herpesviridae Infections | 1 | CTD_human |
| Hgene | SCN8A | C0027765 | nervous system disorder | 1 | CTD_human |
| Hgene | SCN8A | C0032768 | Postherpetic neuralgia | 1 | CTD_human |
| Hgene | SCN8A | C0038220 | Status Epilepticus | 1 | CTD_human |
| Hgene | SCN8A | C0040822 | Tremor | 1 | CTD_human |
| Hgene | SCN8A | C3714756 | Intellectual Disability | 1 | CTD_human;HPO |
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