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Fusion gene ID: 35680 |
FusionGeneSummary for SPIDR_KCNB2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SPIDR_KCNB2 | Fusion gene ID: 35680 | Hgene | Tgene | Gene symbol | SPIDR | KCNB2 | Gene ID | 23514 | 9312 |
| Gene name | scaffold protein involved in DNA repair | potassium voltage-gated channel subfamily B member 2 | |
| Synonyms | KIAA0146 | KV2.2 | |
| Cytomap | 8q11.21 | 8q21.11 | |
| Type of gene | protein-coding | protein-coding | |
| Description | DNA repair-scaffolding proteinscaffolding protein involved in DNA repair | potassium voltage-gated channel subfamily B member 2delayed rectifier potassium channel proteinpotassium channel Kv2.2potassium channel, voltage gated Shab related subfamily B, member 2potassium voltage-gated channel, Shab-related subfamily, member 2 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q14159 | Q92953 | |
| Ensembl transtripts involved in fusion gene | ENST00000297423, ENST00000518074, ENST00000541342, ENST00000521214, ENST00000517693, ENST00000518060, | ENST00000523207, | |
| Fusion gene scores | * DoF score | 16 X 11 X 13=2288 | 3 X 2 X 3=18 |
| # samples | 21 | 4 | |
| ** MAII score | log2(21/2288*10)=-3.44562581911227 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/18*10)=1.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: SPIDR [Title/Abstract] AND KCNB2 [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 | SPIDR | GO:0006974 | cellular response to DNA damage stimulus | 23509288 |
| Hgene | SPIDR | GO:0010569 | regulation of double-strand break repair via homologous recombination | 23754376 |
| Hgene | SPIDR | GO:0031334 | positive regulation of protein complex assembly | 23509288 |
| Hgene | SPIDR | GO:0070202 | regulation of establishment of protein localization to chromosome | 23509288 |
| Hgene | SPIDR | GO:0071479 | cellular response to ionizing radiation | 23509288|23754376 |
| Hgene | SPIDR | GO:0072711 | cellular response to hydroxyurea | 23509288 |
| Hgene | SPIDR | GO:0072757 | cellular response to camptothecin | 23509288 |
| 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 | LGG | TCGA-DU-7299-01A | SPIDR | chr8 | 48206619 | + | KCNB2 | chr8 | 73479877 | + |
| * 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-5UTR | ENST00000297423 | ENST00000523207 | SPIDR | chr8 | 48206619 | + | KCNB2 | chr8 | 73479877 | + |
| 5CDS-5UTR | ENST00000518074 | ENST00000523207 | SPIDR | chr8 | 48206619 | + | KCNB2 | chr8 | 73479877 | + |
| 5CDS-5UTR | ENST00000541342 | ENST00000523207 | SPIDR | chr8 | 48206619 | + | KCNB2 | chr8 | 73479877 | + |
| 3UTR-5UTR | ENST00000521214 | ENST00000523207 | SPIDR | chr8 | 48206619 | + | KCNB2 | chr8 | 73479877 | + |
| intron-5UTR | ENST00000517693 | ENST00000523207 | SPIDR | chr8 | 48206619 | + | KCNB2 | chr8 | 73479877 | + |
| intron-5UTR | ENST00000518060 | ENST00000523207 | SPIDR | chr8 | 48206619 | + | KCNB2 | chr8 | 73479877 | + |
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FusionProtFeatures for SPIDR_KCNB2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SPIDR | KCNB2 |
| Plays a role in DNA double-strand break (DBS) repair viahomologous recombination (HR). Serves as a scaffolding proteinthat helps to promote the recruitment of DNA-processing enzymeslike the helicase BLM and recombinase RAD51 to site of DNA damage,and hence contributes to maintain genomic integrity.{ECO:0000269|PubMed:23509288, ECO:0000269|PubMed:23754376}. | Voltage-gated potassium channel that mediatestransmembrane potassium transport in excitable membranes,primarily in the brain and smooth muscle cells. Channels open orclose in response to the voltage difference across the membrane,letting potassium ions pass in accordance with theirelectrochemical gradient. Homotetrameric channels mediate adelayed-rectifier voltage-dependent outward potassium current thatdisplay rapid activation and slow inactivation in response tomembrane depolarization. Can form functional homotetrameric andheterotetrameric channels that contain variable proportions ofKCNB1; channel properties depend on the type of alpha subunitsthat are part of the channel. Can also form functionalheterotetrameric channels with other alpha subunits that are non-conducting when expressed alone, such as KCNS1 and KCNS2, creatinga functionally diverse range of channel complexes. In vivo,membranes probably contain a mixture of heteromeric potassiumchannel complexes, making it difficult to assign currents observedin intact tissues to any particular potassium channel familymember. Contributes to the delayed-rectifier voltage-gatedpotassium current in cortical pyramidal neurons and smooth musclecells. {ECO:0000250|UniProtKB:A6H8H5,ECO:0000250|UniProtKB:Q63099}. |
| 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 SPIDR_KCNB2 |
| 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 SPIDR_KCNB2 |
| 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 |
| SPIDR | FOXL1, PLA2G10, TRIM25 | KCNB2 | KCNV1, KCNB1, KCNB2, KCNG3, KCNG4, KCNS3 |
| - 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 SPIDR_KCNB2 |
| 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 | KCNB2 | Q92953 | DB06637 | Dalfampridine | Potassium voltage-gated channel subfamily B member 2 {ECO:0000312|HGNC:HGNC:6232} | small molecule | approved |
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RelatedDiseases for SPIDR_KCNB2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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