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Fusion gene ID: 26988 |
FusionGeneSummary for PHKB_SCN8A |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PHKB_SCN8A | Fusion gene ID: 26988 | Hgene | Tgene | Gene symbol | PHKB | SCN8A | Gene ID | 5257 | 6334 |
| Gene name | phosphorylase kinase regulatory subunit beta | sodium voltage-gated channel alpha subunit 8 | |
| Synonyms | - | BFIS5|CERIII|CIAT|EIEE13|MED|NaCh6|Nav1.6|PN4 | |
| Cytomap | 16q12.1 | 12q13.13 | |
| Type of gene | protein-coding | protein-coding | |
| Description | phosphorylase b kinase regulatory subunit betaphosphorylase kinase beta-subunitphosphorylase kinase subunit betaphosphorylase kinase, beta | 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 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q93100 | Q9UQD0 | |
| Ensembl transtripts involved in fusion gene | ENST00000566044, ENST00000455779, ENST00000299167, ENST00000323584, ENST00000567402, | ENST00000546961, ENST00000550891, ENST00000354534, ENST00000545061, | |
| Fusion gene scores | * DoF score | 4 X 4 X 3=48 | 2 X 3 X 2=12 |
| # samples | 4 | 3 | |
| ** MAII score | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/12*10)=1.32192809488736 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: PHKB [Title/Abstract] AND SCN8A [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 | SARC | TCGA-DX-A23R-01A | PHKB | chr16 | 47730399 | + | SCN8A | chr12 | 52077958 | + |
| * 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 |
| 5CDS-intron | ENST00000566044 | ENST00000546961 | PHKB | chr16 | 47730399 | + | SCN8A | chr12 | 52077958 | + |
| 5CDS-intron | ENST00000566044 | ENST00000550891 | PHKB | chr16 | 47730399 | + | SCN8A | chr12 | 52077958 | + |
| 5CDS-intron | ENST00000566044 | ENST00000354534 | PHKB | chr16 | 47730399 | + | SCN8A | chr12 | 52077958 | + |
| 5CDS-intron | ENST00000566044 | ENST00000545061 | PHKB | chr16 | 47730399 | + | SCN8A | chr12 | 52077958 | + |
| 5CDS-intron | ENST00000455779 | ENST00000546961 | PHKB | chr16 | 47730399 | + | SCN8A | chr12 | 52077958 | + |
| 5CDS-intron | ENST00000455779 | ENST00000550891 | PHKB | chr16 | 47730399 | + | SCN8A | chr12 | 52077958 | + |
| 5CDS-intron | ENST00000455779 | ENST00000354534 | PHKB | chr16 | 47730399 | + | SCN8A | chr12 | 52077958 | + |
| 5CDS-intron | ENST00000455779 | ENST00000545061 | PHKB | chr16 | 47730399 | + | SCN8A | chr12 | 52077958 | + |
| 5CDS-intron | ENST00000299167 | ENST00000546961 | PHKB | chr16 | 47730399 | + | SCN8A | chr12 | 52077958 | + |
| 5CDS-intron | ENST00000299167 | ENST00000550891 | PHKB | chr16 | 47730399 | + | SCN8A | chr12 | 52077958 | + |
| 5CDS-intron | ENST00000299167 | ENST00000354534 | PHKB | chr16 | 47730399 | + | SCN8A | chr12 | 52077958 | + |
| 5CDS-intron | ENST00000299167 | ENST00000545061 | PHKB | chr16 | 47730399 | + | SCN8A | chr12 | 52077958 | + |
| 5CDS-intron | ENST00000323584 | ENST00000546961 | PHKB | chr16 | 47730399 | + | SCN8A | chr12 | 52077958 | + |
| 5CDS-intron | ENST00000323584 | ENST00000550891 | PHKB | chr16 | 47730399 | + | SCN8A | chr12 | 52077958 | + |
| 5CDS-intron | ENST00000323584 | ENST00000354534 | PHKB | chr16 | 47730399 | + | SCN8A | chr12 | 52077958 | + |
| 5CDS-intron | ENST00000323584 | ENST00000545061 | PHKB | chr16 | 47730399 | + | SCN8A | chr12 | 52077958 | + |
| intron-intron | ENST00000567402 | ENST00000546961 | PHKB | chr16 | 47730399 | + | SCN8A | chr12 | 52077958 | + |
| intron-intron | ENST00000567402 | ENST00000550891 | PHKB | chr16 | 47730399 | + | SCN8A | chr12 | 52077958 | + |
| intron-intron | ENST00000567402 | ENST00000354534 | PHKB | chr16 | 47730399 | + | SCN8A | chr12 | 52077958 | + |
| intron-intron | ENST00000567402 | ENST00000545061 | PHKB | chr16 | 47730399 | + | SCN8A | chr12 | 52077958 | + |
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FusionProtFeatures for PHKB_SCN8A |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PHKB | SCN8A |
| Phosphorylase b kinase catalyzes the phosphorylation ofserine in certain substrates, including troponin I. The beta chainacts as a regulatory unit and modulates the activity of theholoenzyme in response to phosphorylation. | 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}. |
| 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 PHKB_SCN8A |
| 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 PHKB_SCN8A |
| 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 |
| PHKB | C20orf27, HNRNPC, UBE3A, RAVER1, BRAF, DCP2, AURKB, TP53, CAMK2B, CALM1, DOK4, MPPED1, CORO1B, CORO1C, NTRK1, MED23, HERC2, PHKG2, PTPRT, EYA2, VBP1, TULP3, LGALS3BP | SCN8A | NEDD4, FGF14 |
| - 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 PHKB_SCN8A |
| 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 |
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RelatedDiseases for PHKB_SCN8A |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | PHKB | C0543514 | Glycogen Storage Disease IXB | 1 | CTD_human;ORPHANET;UNIPROT |
| Tgene | SCN8A | C3281191 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13 | 9 | UNIPROT |
| Tgene | SCN8A | C0005586 | Bipolar Disorder | 2 | PSYGENET |
| Tgene | SCN8A | C0004134 | Ataxia | 1 | CTD_human |
| Tgene | SCN8A | C0007758 | Cerebellar Ataxia | 1 | CTD_human;HPO |
| Tgene | SCN8A | C0014544 | Epilepsy | 1 | CTD_human;HPO |
| Tgene | SCN8A | C0019372 | Herpesviridae Infections | 1 | CTD_human |
| Tgene | SCN8A | C0027765 | nervous system disorder | 1 | CTD_human |
| Tgene | SCN8A | C0032768 | Postherpetic neuralgia | 1 | CTD_human |
| Tgene | SCN8A | C0038220 | Status Epilepticus | 1 | CTD_human |
| Tgene | SCN8A | C0040822 | Tremor | 1 | CTD_human |
| Tgene | SCN8A | C3714756 | Intellectual Disability | 1 | CTD_human;HPO |
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