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Fusion gene ID: 7286 |
FusionGeneSummary for CKB_SCN2A |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CKB_SCN2A | Fusion gene ID: 7286 | Hgene | Tgene | Gene symbol | CKB | SCN2A | Gene ID | 1152 | 6326 |
| Gene name | creatine kinase B | sodium voltage-gated channel alpha subunit 2 | |
| Synonyms | B-CK|BCK|CKBB|CPK-B|HEL-211|HEL-S-29 | BFIC3|BFIS3|BFNIS|EIEE11|HBA|HBSCI|HBSCII|NAC2|Na(v)1.2|Nav1.2|SCN2A1|SCN2A2 | |
| Cytomap | 14q32.33 | 2q24.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | creatine kinase B-typebrain creatine kinasecreatine kinase B chaincreatine kinase braincreatine kinase brain-typecreatine phosphokinase B-typeepididymis luminal protein 211epididymis secretory protein Li 29 | sodium channel protein type 2 subunit alphaHBSC IIsodium channel protein brain II subunit alphasodium channel protein type II subunit alphasodium channel protein, brain type 2 alpha subunitsodium channel, voltage-gated, type II, alpha 1 polypeptides | |
| Modification date | 20180519 | 20180527 | |
| UniProtAcc | P12277 | Q99250 | |
| Ensembl transtripts involved in fusion gene | ENST00000348956, | ENST00000375437, ENST00000357398, ENST00000283256, ENST00000375427, | |
| Fusion gene scores | * DoF score | 6 X 7 X 4=168 | 2 X 1 X 1=2 |
| # samples | 10 | 2 | |
| ** MAII score | log2(10/168*10)=-0.748461233004036 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/2*10)=3.32192809488736 | |
| Context | PubMed: CKB [Title/Abstract] AND SCN2A [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 | LGG | TCGA-FG-8189-01B | CKB | chr14 | 103986004 | - | SCN2A | chr2 | 166150541 | + |
| * 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 | ENST00000348956 | ENST00000375437 | CKB | chr14 | 103986004 | - | SCN2A | chr2 | 166150541 | + |
| intron-intron | ENST00000348956 | ENST00000357398 | CKB | chr14 | 103986004 | - | SCN2A | chr2 | 166150541 | + |
| intron-intron | ENST00000348956 | ENST00000283256 | CKB | chr14 | 103986004 | - | SCN2A | chr2 | 166150541 | + |
| intron-intron | ENST00000348956 | ENST00000375427 | CKB | chr14 | 103986004 | - | SCN2A | chr2 | 166150541 | + |
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FusionProtFeatures for CKB_SCN2A |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CKB | SCN2A |
| Reversibly catalyzes the transfer of phosphate betweenATP and various phosphogens (e.g. creatine phosphate). Creatinekinase isoenzymes play a central role in energy transduction intissues with large, fluctuating energy demands, such as skeletalmuscle, heart, brain and spermatozoa. | 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.{ECO:0000269|PubMed:1325650, ECO:0000269|PubMed:17021166,ECO:0000269|PubMed:28256214}. |
| 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 CKB_SCN2A |
| 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 CKB_SCN2A |
| 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 |
| CKB | ASB9, SERP2, USP15, USPL1, HDAC5, PSMA3, ILK, TAB1, PPP1CA, SIRT7, TERF1, TINF2, ACD, POT1, PPP1CC, CUL3, CDK2, CUL1, AKT1, PLA2G4A, TRAF3IP1, IQCB1, MLH1, RAD52, CNDP2, CSE1L, DFFA, DLD, EEF2, ERP44, FTO, HMGB2, LDHB, RRAGB, SLC9A3R1, TBCB, G6PD, ISOC1, NANS, NPEPPS, PAK2, PFAS, SCLY, TGM2, UBFD1, YWHAG, ASB12, ASB16, TRIM63, HUWE1, FUS, MOV10, CUL7, OBSL1, CCDC8, CKM, ABCB7, ACO2, ACTN1, ACTN4, ALDOA, ALDOC, CAST, MYH7B, TPM1, TPM3, DDX10, HSPE1, TPM4, NTRK1, B9D2, CEP120, CNTROB, SPICE1, CNTRL, POC1A, CENPJ, DLST, DNM1L, SDHA, SOAT1, SOD1, VDAC1 | SCN2A |
| - 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 CKB_SCN2A |
| 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 | SCN2A | Q99250 | DB00555 | Lamotrigine | Sodium channel protein type 2 subunit alpha | small molecule | approved|investigational |
| Tgene | SCN2A | Q99250 | DB00909 | Zonisamide | Sodium channel protein type 2 subunit alpha | small molecule | approved|investigational |
| Tgene | SCN2A | Q99250 | DB00818 | Propofol | Sodium channel protein type 2 subunit alpha | small molecule | approved|investigational|vet_approved |
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RelatedDiseases for CKB_SCN2A |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | CKB | C0001418 | Adenocarcinoma | 1 | CTD_human |
| Hgene | CKB | C0027051 | Myocardial Infarction | 1 | CTD_human |
| Hgene | CKB | C0036341 | Schizophrenia | 1 | PSYGENET |
| Hgene | CKB | C0038356 | Stomach Neoplasms | 1 | CTD_human |
| Hgene | CKB | C0149721 | Left Ventricular Hypertrophy | 1 | CTD_human |
| Hgene | CKB | C0149925 | Small cell carcinoma of lung | 1 | CTD_human |
| Hgene | CKB | C0857501 | acute schizophrenia | 1 | PSYGENET |
| Hgene | CKB | C0948089 | Acute Coronary Syndrome | 1 | CTD_human |
| Tgene | SCN2A | C1843140 | SEIZURES, BENIGN FAMILIAL INFANTILE, 3 | 5 | UNIPROT |
| Tgene | SCN2A | C3150987 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 | 5 | CTD_human;UNIPROT |
| Tgene | SCN2A | C0014544 | Epilepsy | 2 | CTD_human;HPO |
| Tgene | SCN2A | C0009952 | Febrile Convulsions | 1 | CTD_human;HPO |
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