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Fusion gene ID: 6606 |
FusionGeneSummary for CDKAL1_KCNMB2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CDKAL1_KCNMB2 | Fusion gene ID: 6606 | Hgene | Tgene | Gene symbol | CDKAL1 | KCNMB2 | Gene ID | 54901 | 27094 |
| Gene name | CDK5 regulatory subunit associated protein 1 like 1 | potassium calcium-activated channel subfamily M regulatory beta subunit 3 | |
| Synonyms | - | BKBETA3|HBETA3|K(VCA)BETA-3|KCNMB2|KCNMBL|SLO-BETA-3|SLOBETA3 | |
| Cytomap | 6p22.3 | 3q26.32 | |
| Type of gene | protein-coding | protein-coding | |
| Description | threonylcarbamoyladenosine tRNA methylthiotransferasetRNA-t(6)A37 methylthiotransferase | calcium-activated potassium channel subunit beta-3BK channel beta subunit 3BK channel subunit beta-3MaxiK channel beta-subunit 3big potassium channel beta subunit 3calcium-activated potassium channel regulatory subunitcalcium-activated potassium cha | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q5VV42 | Q9Y691 | |
| Ensembl transtripts involved in fusion gene | ENST00000274695, ENST00000378624, ENST00000378610, ENST00000476517, | ENST00000420517, ENST00000470361, ENST00000452583, ENST00000432997, ENST00000358316, | |
| Fusion gene scores | * DoF score | 23 X 12 X 11=3036 | 3 X 2 X 3=18 |
| # samples | 22 | 3 | |
| ** MAII score | log2(22/3036*10)=-3.78659636189081 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: CDKAL1 [Title/Abstract] AND KCNMB2 [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 |
| Tgene | KCNMB2 | GO:0001508 | action potential | 10692449 |
| Tgene | KCNMB2 | GO:0005513 | detection of calcium ion | 10692449 |
| Tgene | KCNMB2 | GO:0006813 | potassium ion transport | 10692449 |
| Tgene | KCNMB2 | GO:0019228 | neuronal action potential | 10692449 |
| 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 | HNSC | TCGA-BA-A4II-01A | CDKAL1 | chr6 | 20649608 | + | KCNMB2 | chr3 | 178525131 | + |
| * 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 | ENST00000274695 | ENST00000420517 | CDKAL1 | chr6 | 20649608 | + | KCNMB2 | chr3 | 178525131 | + |
| 5CDS-3UTR | ENST00000274695 | ENST00000470361 | CDKAL1 | chr6 | 20649608 | + | KCNMB2 | chr3 | 178525131 | + |
| 5CDS-5UTR | ENST00000274695 | ENST00000452583 | CDKAL1 | chr6 | 20649608 | + | KCNMB2 | chr3 | 178525131 | + |
| 5CDS-5UTR | ENST00000274695 | ENST00000432997 | CDKAL1 | chr6 | 20649608 | + | KCNMB2 | chr3 | 178525131 | + |
| 5CDS-5UTR | ENST00000274695 | ENST00000358316 | CDKAL1 | chr6 | 20649608 | + | KCNMB2 | chr3 | 178525131 | + |
| 5CDS-5UTR | ENST00000378624 | ENST00000420517 | CDKAL1 | chr6 | 20649608 | + | KCNMB2 | chr3 | 178525131 | + |
| 5CDS-3UTR | ENST00000378624 | ENST00000470361 | CDKAL1 | chr6 | 20649608 | + | KCNMB2 | chr3 | 178525131 | + |
| 5CDS-5UTR | ENST00000378624 | ENST00000452583 | CDKAL1 | chr6 | 20649608 | + | KCNMB2 | chr3 | 178525131 | + |
| 5CDS-5UTR | ENST00000378624 | ENST00000432997 | CDKAL1 | chr6 | 20649608 | + | KCNMB2 | chr3 | 178525131 | + |
| 5CDS-5UTR | ENST00000378624 | ENST00000358316 | CDKAL1 | chr6 | 20649608 | + | KCNMB2 | chr3 | 178525131 | + |
| 5CDS-5UTR | ENST00000378610 | ENST00000420517 | CDKAL1 | chr6 | 20649608 | + | KCNMB2 | chr3 | 178525131 | + |
| 5CDS-3UTR | ENST00000378610 | ENST00000470361 | CDKAL1 | chr6 | 20649608 | + | KCNMB2 | chr3 | 178525131 | + |
| 5CDS-5UTR | ENST00000378610 | ENST00000452583 | CDKAL1 | chr6 | 20649608 | + | KCNMB2 | chr3 | 178525131 | + |
| 5CDS-5UTR | ENST00000378610 | ENST00000432997 | CDKAL1 | chr6 | 20649608 | + | KCNMB2 | chr3 | 178525131 | + |
| 5CDS-5UTR | ENST00000378610 | ENST00000358316 | CDKAL1 | chr6 | 20649608 | + | KCNMB2 | chr3 | 178525131 | + |
| intron-5UTR | ENST00000476517 | ENST00000420517 | CDKAL1 | chr6 | 20649608 | + | KCNMB2 | chr3 | 178525131 | + |
| intron-3UTR | ENST00000476517 | ENST00000470361 | CDKAL1 | chr6 | 20649608 | + | KCNMB2 | chr3 | 178525131 | + |
| intron-5UTR | ENST00000476517 | ENST00000452583 | CDKAL1 | chr6 | 20649608 | + | KCNMB2 | chr3 | 178525131 | + |
| intron-5UTR | ENST00000476517 | ENST00000432997 | CDKAL1 | chr6 | 20649608 | + | KCNMB2 | chr3 | 178525131 | + |
| intron-5UTR | ENST00000476517 | ENST00000358316 | CDKAL1 | chr6 | 20649608 | + | KCNMB2 | chr3 | 178525131 | + |
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FusionProtFeatures for CDKAL1_KCNMB2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CDKAL1 | KCNMB2 |
| Catalyzes the methylthiolation of N6-threonylcarbamoyladenosine (t(6)A), leading to the formation of 2-methylthio-N6-threonylcarbamoyladenosine (ms(2)t(6)A) at position37 in tRNAs that read codons beginning with adenine.{ECO:0000269|PubMed:20584901}. | Regulatory subunit of the calcium activated potassiumKCNMA1 (maxiK) channel. Modulates the calcium sensitivity andgating kinetics of KCNMA1, thereby contributing to KCNMA1 channeldiversity. Acts as a negative regulator that confers rapid andcomplete inactivation of KCNMA1 channel complex. May participatein KCNMA1 inactivation in chromaffin cells of the adrenal gland orin hippocampal CA1 neurons. {ECO:0000269|PubMed:10097176,ECO:0000269|PubMed:10377337}. |
| 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 CDKAL1_KCNMB2 |
| 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 CDKAL1_KCNMB2 |
| 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 |
| CDKAL1 | ELAVL1, MMS19, LMNA, FAM96B, CIAO1, LCK, SUZ12, TCTN2, TCTN3, EVC2, NEK8, TMEM237, TMEM17, TMEM216, FAF2, TTYH3, BPIFB1, DNM1, TYW3, DNM3, TYW1B | KCNMB2 | APP |
| - 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 CDKAL1_KCNMB2 |
| 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 | KCNMB2 | Q9Y691 | DB01110 | Miconazole | Calcium-activated potassium channel subunit beta-2 | small molecule | approved|investigational|vet_approved |
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RelatedDiseases for CDKAL1_KCNMB2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | CDKAL1 | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 3 | CTD_human |
| Hgene | CDKAL1 | C0005910 | Body Weight | 2 | CTD_human |
| Hgene | CDKAL1 | C0005612 | Birth Weight | 1 | CTD_human |
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