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Fusion gene ID: 18310 |
FusionGeneSummary for KCNMB4_MSRB3 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: KCNMB4_MSRB3 | Fusion gene ID: 18310 | Hgene | Tgene | Gene symbol | KCNMB4 | MSRB3 | Gene ID | 27345 | 253827 |
| Gene name | potassium calcium-activated channel subfamily M regulatory beta subunit 4 | methionine sulfoxide reductase B3 | |
| Synonyms | - | DFNB74 | |
| Cytomap | 12q15 | 12q14.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | calcium-activated potassium channel subunit beta-4BK channel beta subunit 4BK channel subunit beta-4BKbeta4MaxiK channel beta-subunit 4big potassium channel beta subunit 4calcium-activated potassium channel, subfamily M subunit beta-4charybdotoxin | methionine-R-sulfoxide reductase B3methionine-R-sulfoxide reductase B3, mitochondrial | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q86W47 | Q8IXL7 | |
| Ensembl transtripts involved in fusion gene | ENST00000258111, | ENST00000355192, ENST00000308259, ENST00000540804, ENST00000535664, ENST00000538725, | |
| Fusion gene scores | * DoF score | 10 X 3 X 6=180 | 11 X 6 X 6=396 |
| # samples | 10 | 10 | |
| ** MAII score | log2(10/180*10)=-0.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(10/396*10)=-1.98550043030488 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: KCNMB4 [Title/Abstract] AND MSRB3 [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 | KCNMB4 | GO:0001508 | action potential | 10692449 |
| Hgene | KCNMB4 | GO:0005513 | detection of calcium ion | 10692449 |
| Hgene | KCNMB4 | GO:0006813 | potassium ion transport | 10692449 |
| Hgene | KCNMB4 | GO:0019228 | neuronal action potential | 10692449 |
| Tgene | MSRB3 | GO:0030091 | protein repair | 14699060 |
| 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 | BLCA | TCGA-DK-AA75-01A | KCNMB4 | chr12 | 70760850 | + | MSRB3 | chr12 | 65881784 | + |
| * 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 | ENST00000258111 | ENST00000355192 | KCNMB4 | chr12 | 70760850 | + | MSRB3 | chr12 | 65881784 | + |
| 5CDS-intron | ENST00000258111 | ENST00000308259 | KCNMB4 | chr12 | 70760850 | + | MSRB3 | chr12 | 65881784 | + |
| 5CDS-intron | ENST00000258111 | ENST00000540804 | KCNMB4 | chr12 | 70760850 | + | MSRB3 | chr12 | 65881784 | + |
| 5CDS-intron | ENST00000258111 | ENST00000535664 | KCNMB4 | chr12 | 70760850 | + | MSRB3 | chr12 | 65881784 | + |
| 5CDS-intron | ENST00000258111 | ENST00000538725 | KCNMB4 | chr12 | 70760850 | + | MSRB3 | chr12 | 65881784 | + |
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FusionProtFeatures for KCNMB4_MSRB3 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| KCNMB4 | MSRB3 |
| Regulatory subunit of the calcium activated potassiumKCNMA1 (maxiK) channel. Modulates the calcium sensitivity andgating kinetics of KCNMA1, thereby contributing to KCNMA1 channeldiversity. Decreases the gating kinetics and calcium sensitivityof the KCNMA1 channel, but with fast deactivation kinetics. Maydecrease KCNMA1 channel openings at low calcium concentrations butincreases channel openings at high calcium concentrations. MakesKCNMA1 channel resistant to 100 nM charybdotoxin (CTX) toxinconcentrations. {ECO:0000269|PubMed:10692449,ECO:0000269|PubMed:10792058, ECO:0000269|PubMed:10828459}. | Catalyzes the reduction of free and protein-boundmethionine sulfoxide to methionine. Isoform 2 is essential forhearing. {ECO:0000269|PubMed:14699060,ECO:0000269|PubMed:21185009}. |
| 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 KCNMB4_MSRB3 |
| 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 KCNMB4_MSRB3 |
| 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 |
| KCNMB4 | MSRB3 | GOLGA2, TCF4, TRIP6, PRDM4, MOV10, NXF1, AZIN1, GAPDH, MAPK8IP2, LNX2, KLHL7, RBP4, SPOP, DCUN1D4, C1QL1, BTBD9, STIM2, IFNA21 |
| - 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 KCNMB4_MSRB3 |
| 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 |
| Hgene | KCNMB4 | Q86W47 | DB01110 | Miconazole | Calcium-activated potassium channel subunit beta-4 | small molecule | approved|investigational|vet_approved |
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RelatedDiseases for KCNMB4_MSRB3 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | MSRB3 | C1384666 | hearing impairment | 1 | CTD_human |
| Tgene | MSRB3 | C2239351 | DEAFNESS, AUTOSOMAL RECESSIVE 74 | 1 | CTD_human;UNIPROT |
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