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Fusion gene ID: 22101 |
FusionGeneSummary for MKLN1_KCNMB1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: MKLN1_KCNMB1 | Fusion gene ID: 22101 | Hgene | Tgene | Gene symbol | MKLN1 | KCNMB1 | Gene ID | 4289 | 3779 |
| Gene name | muskelin 1 | potassium calcium-activated channel subfamily M regulatory beta subunit 1 | |
| Synonyms | TWA2 | BKbeta1|K(VCA)beta|SLO-BETA|hbeta1|hslo-beta|k(VCA)beta-1|slo-beta-1 | |
| Cytomap | 7q32.3 | 5q35.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | muskelinmuskelin 1, intracellular mediator containing kelch motifs | calcium-activated potassium channel subunit beta-1BK channel beta subunit 1BK channel subunit beta-1MaxiK channel beta-subunit 1big potassium channel beta subunit 1calcium-activated potassium channel, subfamily M subunit beta-1charybdotoxin receptor | |
| Modification date | 20180522 | 20180523 | |
| UniProtAcc | Q9UL63 | Q16558 | |
| Ensembl transtripts involved in fusion gene | ENST00000421797, ENST00000429546, ENST00000352689, ENST00000498778, | ENST00000274629, ENST00000521859, | |
| Fusion gene scores | * DoF score | 9 X 9 X 6=486 | 2 X 1 X 2=4 |
| # samples | 9 | 2 | |
| ** MAII score | log2(9/486*10)=-2.43295940727611 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/4*10)=2.32192809488736 | |
| Context | PubMed: MKLN1 [Title/Abstract] AND KCNMB1 [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 | LD | SKCM | TCGA-FS-A1Z4-06A | MKLN1 | chr7 | 131099469 | + | KCNMB1 | chr5 | 169812475 | - |
| * 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 | ENST00000421797 | ENST00000274629 | MKLN1 | chr7 | 131099469 | + | KCNMB1 | chr5 | 169812475 | - |
| 5CDS-5UTR | ENST00000421797 | ENST00000521859 | MKLN1 | chr7 | 131099469 | + | KCNMB1 | chr5 | 169812475 | - |
| intron-5UTR | ENST00000429546 | ENST00000274629 | MKLN1 | chr7 | 131099469 | + | KCNMB1 | chr5 | 169812475 | - |
| intron-5UTR | ENST00000429546 | ENST00000521859 | MKLN1 | chr7 | 131099469 | + | KCNMB1 | chr5 | 169812475 | - |
| 5CDS-5UTR | ENST00000352689 | ENST00000274629 | MKLN1 | chr7 | 131099469 | + | KCNMB1 | chr5 | 169812475 | - |
| 5CDS-5UTR | ENST00000352689 | ENST00000521859 | MKLN1 | chr7 | 131099469 | + | KCNMB1 | chr5 | 169812475 | - |
| intron-5UTR | ENST00000498778 | ENST00000274629 | MKLN1 | chr7 | 131099469 | + | KCNMB1 | chr5 | 169812475 | - |
| intron-5UTR | ENST00000498778 | ENST00000521859 | MKLN1 | chr7 | 131099469 | + | KCNMB1 | chr5 | 169812475 | - |
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FusionProtFeatures for MKLN1_KCNMB1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| MKLN1 | KCNMB1 |
| Acts as a mediator of cell spreading and cytoskeletalresponses to the extracellular matrix component THBS1.{ECO:0000250|UniProtKB:O89050}. | Regulatory subunit of the calcium activated potassiumKCNMA1 (maxiK) channel. Modulates the calcium sensitivity andgating kinetics of KCNMA1, thereby contributing to KCNMA1 channeldiversity. Increases the apparent Ca(2+)/voltage sensitivity ofthe KCNMA1 channel. It also modifies KCNMA1 channel kinetics andalters its pharmacological properties. It slows down theactivation and the deactivation kinetics of the channel. Acts as anegative regulator of smooth muscle contraction by enhancing thecalcium sensitivity to KCNMA1. Its presence is also a requirementfor internal binding of the KCNMA1 channel openerdehydrosoyasaponin I (DHS-1) triterpene glycoside and for externalbinding of the agonist hormone 17-beta-estradiol (E2). Increasesthe binding activity of charybdotoxin (CTX) toxin to KCNMA1peptide blocker by increasing the CTX association rate anddecreasing the dissociation rate. |
| 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 MKLN1_KCNMB1 |
| 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 MKLN1_KCNMB1 |
| 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 |
| MKLN1 | RNPS1, MYC, RANBP9, ELAVL1, MKLN1, MAEA, GID8, RMND5A, SOX2, PTGER3, GDNF, GLIPR1L2, MMP7, SFRP2, TDGF1, GGH, MRPL4, GPS2, NR1H3, HLA-DPB1, ADCYAP1, PRG2, IFI30, UNK, DYNC1H1, BMP1, PRG3, INSL6, PIGT, CCDC120, TIGD5, SUCLA2, NFATC1, LILRB4, CARKD, IKZF1, C4orf27, TLE4, ARMC8, ZMYND19, GID4, HTRA2, WDR26, PMFBP1, AAMP, MMADHC, HSPBP1, LONP1, RSPH10B, NDUFS2, SOAT1, RMND5B, YPEL5, RANBP10, RAB8A, TRIM25 | KCNMB1 | EWSR1, CLCA1, KCNMA1, TBXA2R |
| - 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 MKLN1_KCNMB1 |
| 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 | KCNMB1 | Q16558 | DB01110 | Miconazole | Calcium-activated potassium channel subunit beta-1 | small molecule | approved|investigational|vet_approved |
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RelatedDiseases for MKLN1_KCNMB1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | KCNMB1 | C0020538 | Hypertensive disease | 1 | CTD_human |
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