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Fusion Gene Summary | |
Fusion Gene ORF analysis | |
Fusion Genomic Features | |
Fusion Protein Features | |
Fusion Gene Sequence | |
Fusion Gene PPI analysis | |
Related Drugs | |
Related Diseases |
Fusion gene:SPIDR-KCNB2 (FusionGDB2 ID:85790) |
Fusion Gene Summary for SPIDR-KCNB2 |
Fusion gene summary |
Fusion gene information | Fusion gene name: SPIDR-KCNB2 | Fusion gene ID: 85790 | 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 | 20200320 | 20200313 | |
UniProtAcc | Q14159 | Q92953 | |
Ensembl transtripts involved in fusion gene | ENST00000521214, ENST00000297423, ENST00000518074, ENST00000541342, ENST00000517693, ENST00000518060, | ENST00000523207, | |
Fusion gene scores | * DoF score | 24 X 12 X 15=4320 | 9 X 8 X 4=288 |
# samples | 27 | 10 | |
** MAII score | log2(27/4320*10)=-4 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(10/288*10)=-1.52606881166759 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: SPIDR [Title/Abstract] AND KCNB2 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | SPIDR(48206619)-KCNB2(73479877), # samples:2 | ||
Anticipated loss of major functional domain due to fusion event. |
* 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 breakpoints across SPIDR (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
Fusion gene breakpoints across KCNB2 (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0) * 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. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChimerDB4 | LGG | TCGA-DU-7299-01A | SPIDR | chr8 | 48206619 | + | KCNB2 | chr8 | 73479877 | + |
ChimerDB4 | LGG | TCGA-DU-7299 | SPIDR | chr8 | 48206619 | + | KCNB2 | chr8 | 73479877 | + |
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Fusion Gene ORF analysis for SPIDR-KCNB2 |
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 |
3UTR-5UTR | ENST00000521214 | ENST00000523207 | SPIDR | chr8 | 48206619 | + | KCNB2 | chr8 | 73479877 | + |
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 | + |
intron-5UTR | ENST00000517693 | ENST00000523207 | SPIDR | chr8 | 48206619 | + | KCNB2 | chr8 | 73479877 | + |
intron-5UTR | ENST00000518060 | ENST00000523207 | SPIDR | chr8 | 48206619 | + | KCNB2 | chr8 | 73479877 | + |
ORFfinder result based on the fusion transcript sequence of in-frame fusion genes. |
Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
DeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated. |
Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for SPIDR-KCNB2 |
FusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints. |
Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
SPIDR | chr8 | 48206619 | + | KCNB2 | chr8 | 73479876 | + | 1.05E-06 | 0.9999989 |
SPIDR | chr8 | 48206619 | + | KCNB2 | chr8 | 73479876 | + | 1.05E-06 | 0.9999989 |
SPIDR | chr8 | 48206619 | + | KCNB2 | chr8 | 73479876 | + | 1.05E-06 | 0.9999989 |
SPIDR | chr8 | 48206619 | + | KCNB2 | chr8 | 73479876 | + | 1.05E-06 | 0.9999989 |
Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page. |
Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page. |
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Fusion Protein Features for SPIDR-KCNB2 |
Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:48206619/:73479877) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
SPIDR | KCNB2 |
FUNCTION: Plays a role in DNA double-strand break (DBS) repair via homologous recombination (HR). Serves as a scaffolding protein that helps to promote the recruitment of DNA-processing enzymes like 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}. | FUNCTION: Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes, primarily in the brain and smooth muscle cells. Channels open or close in response to the voltage difference across the membrane, letting potassium ions pass in accordance with their electrochemical gradient. Homotetrameric channels mediate a delayed-rectifier voltage-dependent outward potassium current that display rapid activation and slow inactivation in response to membrane depolarization. Can form functional homotetrameric and heterotetrameric channels that contain variable proportions of KCNB1; channel properties depend on the type of alpha subunits that are part of the channel. Can also form functional heterotetrameric channels with other alpha subunits that are non-conducting when expressed alone, such as KCNS1 and KCNS2, creating a functionally diverse range of channel complexes. In vivo, membranes probably contain a mixture of heteromeric potassium channel complexes, making it difficult to assign currents observed in intact tissues to any particular potassium channel family member. Contributes to the delayed-rectifier voltage-gated potassium current in cortical pyramidal neurons and smooth muscle cells. {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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Fusion Gene Sequence for SPIDR-KCNB2 |
For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
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Fusion Gene PPI Analysis 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 |
- 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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Related Drugs for SPIDR-KCNB2 |
Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for SPIDR-KCNB2 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |