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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:CCDC59-KCNMB4 (FusionGDB2 ID:13852)

Fusion Gene Summary for CCDC59-KCNMB4

check button Fusion gene summary
Fusion gene informationFusion gene name: CCDC59-KCNMB4
Fusion gene ID: 13852
HgeneTgene
Gene symbol

CCDC59

KCNMB4

Gene ID

29080

27345

Gene namecoiled-coil domain containing 59potassium calcium-activated channel subfamily M regulatory beta subunit 4
SynonymsBR22|HSPC128|TAP26-
Cytomap

12q21.31

12q15

Type of geneprotein-codingprotein-coding
Descriptionthyroid transcription factor 1-associated protein 26TTF-1-associated protein 26TTF-1-associated protein BR2coiled-coil domain-containing protein 59calcium-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
Modification date2020031320200313
UniProtAcc

Q9P031

Q86W47

Ensembl transtripts involved in fusion geneENST00000548126, ENST00000256151, 
ENST00000258111, 
Fusion gene scores* DoF score4 X 4 X 3=4815 X 8 X 8=960
# samples 416
** MAII scorelog2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(16/960*10)=-2.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CCDC59 [Title/Abstract] AND KCNMB4 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCCDC59(82748274)-KCNMB4(70824265), # samples:1
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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
TgeneKCNMB4

GO:0001508

action potential

10692449

TgeneKCNMB4

GO:0005513

detection of calcium ion

10692449

TgeneKCNMB4

GO:0006813

potassium ion transport

10692449

TgeneKCNMB4

GO:0019228

neuronal action potential

10692449


check buttonFusion gene breakpoints across CCDC59 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across KCNMB4 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check button 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4SARCTCGA-DX-A2J0-01ACCDC59chr12

82748274

-KCNMB4chr12

70824265

+


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Fusion Gene ORF analysis for CCDC59-KCNMB4

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
5UTR-3CDSENST00000548126ENST00000258111CCDC59chr12

82748274

-KCNMB4chr12

70824265

+
In-frameENST00000256151ENST00000258111CCDC59chr12

82748274

-KCNMB4chr12

70824265

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000256151CCDC59chr1282748274-ENST00000258111KCNMB4chr1270824265+47849766061202

check buttonDeepORF 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.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000256151ENST00000258111CCDC59chr1282748274-KCNMB4chr1270824265+0.0006949070.9993051

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Fusion Genomic Features for CCDC59-KCNMB4


check buttonFusionAI 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.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)
CCDC59chr1282748273-KCNMB4chr1270824264+9.71E-070.99999905
CCDC59chr1282748273-KCNMB4chr1270824264+9.71E-070.99999905

check buttonDistribution 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.
genomic feature

check buttonDistribution 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.
genomic feature of top 1%

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Fusion Protein Features for CCDC59-KCNMB4


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr12:82748274/chr12:70824265)
- 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.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CCDC59

Q9P031

KCNMB4

Q86W47

FUNCTION: Component of the transcription complexes of the pulmonary surfactant-associated protein-B (SFTPB) and -C (SFTPC). Enhances homeobox protein Nkx-2.1-activated SFTPB and SFTPC promoter activities. {ECO:0000269|PubMed:12882447, ECO:0000269|PubMed:16630564}.FUNCTION: Regulatory subunit of the calcium activated potassium KCNMA1 (maxiK) channel. Modulates the calcium sensitivity and gating kinetics of KCNMA1, thereby contributing to KCNMA1 channel diversity. Decreases the gating kinetics and calcium sensitivity of the KCNMA1 channel, but with fast deactivation kinetics. May decrease KCNMA1 channel openings at low calcium concentrations but increases channel openings at high calcium concentrations. Makes KCNMA1 channel resistant to 100 nM charybdotoxin (CTX) toxin concentrations. {ECO:0000269|PubMed:10692449, ECO:0000269|PubMed:10792058, ECO:0000269|PubMed:10828459}.

check buttonRetention 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

download page


* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneKCNMB4chr12:82748274chr12:70824265ENST0000025811113189_210154211.0Topological domainCytoplasmic
TgeneKCNMB4chr12:82748274chr12:70824265ENST0000025811113168_188154211.0TransmembraneHelical%3B Name%3D2

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneKCNMB4chr12:82748274chr12:70824265ENST00000258111131_19154211.0Topological domainCytoplasmic
TgeneKCNMB4chr12:82748274chr12:70824265ENST000002581111341_167154211.0Topological domainExtracellular
TgeneKCNMB4chr12:82748274chr12:70824265ENST000002581111320_40154211.0TransmembraneHelical%3B Name%3D1


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Fusion Gene Sequence for CCDC59-KCNMB4


check button 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.
>13852_13852_1_CCDC59-KCNMB4_CCDC59_chr12_82748274_ENST00000256151_KCNMB4_chr12_70824265_ENST00000258111_length(transcript)=4784nt_BP=976nt
CTGAGGGCAGGGCCTCCGTCTCCGACGCTGACTTCCTCAGCGCAGCCAGCACTGTCTCCGGTGGCAAGTCGACCAGCTCCTCCCACACGG
ATTCTGTGTAGAAATCCACGGTATGTGCATTGGAAATGGACAGGGCATCCCTCAGGAACTGCAGCAGTCCCTGCAACTTGGCACGCAGCG
TGGGCAGGTCCGGGGTCACCGGGAGAGGGCAAGAAGCCGCCATGACGCTCACCCTCCGAGGCTGTAGGTGGCGCAAACATGGCCGTGAGG
CGCCAGCTCGGCCCAAATTAGCACAGGCAGGCTCAGTAGAGCTCCGAGCCGGATTCCTTCTGAGCGATTGATTGCTTCGGCTTGGTGACG
TATTTTGTGGGCGTCCGTCGTGGTCTTCTGATGACGCAGTTAGTCGGCTGCAATGGCGCCGGTGAGGCGGTCCGCGAAGTGGCGGCCTGG
TGGTATTGAGGCGCGTGGTGAAGGGGTTTCCACTGTCGGGTACAGGAATAAGAATGTGAGACAGAAGACATGGCGGCCTAACCACCCGCA
AGCCTTCGTGGGGAGCGTTCGCGAGGGACAAGGCTTTGCTTTTCGAAGAAAACTGAAAATACAGCAAAGTTACAAGAAATTGCTACGGAA
GGAAAAGAAGGCTCAAACGTCACTGGAATCTCAATTCACAGATCGATACCCAGATAATCTGAAACATCTCTATTTAGCTGAAGAGGAAAG
ACATAGGAAGCAAGCAAGAAAAGTCGACCATCCTTTGTCAGAACAAGTTCACCAGCCGTTGCTTGAAGAACAGTGTAGCATTGACGAGCC
TTTATTTGAAGATCAGTGTAGCTTTGACCAGCCTCAGCCAGAAGAACAATGTATTAAAACAGTAAACTCCTTTACAATTCCAAAGAAAAA
TAAAAAGAAAACATCAAATCAAAAAGCACAAGAAGAATATGAACAGATACAAGCCAAACGTGCTGCTAAGAAACAAACCAGATGATGTGC
TTCTGCATCGCACTCATGATGAGATTGTCCTCCTGCATTGCTTCCTCTGGCCCCTGGTGACATTTGTGGTGGGCGTTCTCATTGTGGTCC
TGACCATCTGTGCCAAGAGCTTGGCGGTCAAGGCGGAAGCCATGAAGAAGCGCAAGTTCTCTTAAAGGGGAAGGAGGCTTGTAGAAAGCA
AAGTACAGAAGCTGTACTCATCGGCACGCGTCCACCTGCGGAACCTGTGTTTCCTGGCGCAGGAGATGGACAGGGCCACGACAGGGCTCT
GAGAGGCTCATCCCTCAGTGGCAACAGAAACAGGCACAACTGGAAGACTTGGAACCTCAAAGCTTGTATTCCATCTGCTGTAGCAATGGC
TAAAGGGTCAAGATCTTAGCTGTATGGAGTAACTATTTCAGAAAACCCTATAAGAAGTTCATTTTCTTTCAAAAGTAACAGTATATTATT
TGTACAGTGTAGTATACAAACCATTATGATTTATGCTACTTAAAAATATTAAAATAGAGTGGTCTGTGTTATTTTCTATTTCCTTTTTTA
TGCTTAGAACACCAGGGTTTAAAAAAAAAAAAAAGGTGAGGACATCTGGGTCTCATTTGCTTCTGCTAGGTTAAACTTTTACTTGACAAC
AAGGATTCCTGCTGAAGTCTGAACCTTACTGTGTAACCCTCAGTTTCCACTATTAAAGAGTATCTTTTGACGTCTGCTTGGAAAATGAAT
AGTATACTGGTAACTCAGTCTCCAGTCACCTCTGTGTCTCTTAAGCAAGAGATTCTAAAAGATTGGGAAAACATATCCTCCAACACCTGC
CTTTGCCTAACCATTATTTTTCACCAGATTACTTCTTAAGAGAGGGAGGTGATTCTGAAGAAGGCTTCTATCTCAAAAAGCACTGGGCTT
CCTTATTCATCTGTTCTTGTTGTTTTTGACGGAGTTAAAAAAGTTTGTGTGCAATACAATATACATGATGTGAAGGACACTCTTCAGCTT
AGTGAAACGCTGTTTTCATTTTTTTTTTTTTTTGTAGGTCAGAAAAAAACAACAAAATCAGTTCAAGCATTTTTTTTTCTTTGTCCTTGC
CTTGATGTTATGAGTATTAAAACCAGGAGGATTGCTGCCATTGTGCAGTTTGCTTAGACAAACCTGGAGATGCAACCCAGCTCACATCAT
TGCTACTGATGAGCTTTCTGTGCCTTTATCAAAAGTTGATTGAGAAGACCATATTTCTTTGTATCTTTTTATAAACTCAAATTCCAAGTA
TCAAATCGCAGGTCTCAGTGAACATCAAACCTATTTACTACATAGAATCAAACCTTTGTTTAGGTGAGATGTACATCGTTAGTGGAGGAA
AAACTGACAACCTAATTTCATTTGTTTTCTTCTGATACTCTTCAGACATGCCTCTATTAGAATAAAGGTAAACTGGAATTTAAAGACAAG
TTCCCCTCAGTTATTTCCATGGAGCTGTAATATGTATATATGGAGTGATGGTTTCCTGACCTTTAGTCCACATACCAATGTTTTCTTTTT
TCTTTTTTTTTTTTTTTTTTGAGATGGTGTCTCACTCTGTTGCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTACAGTCTCCACC
TCCTGGGTTCAAGTCATTCCTCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACGCACCACCACGCCTGGCTAATTTTTTTGTATT
TTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTTGTGATCTGCCCACTTCACCTCCCAAAGTGCTGG
GATTACAGGCCAATGTTTTCTTAATCTTAGAATGTGAATAACTGAAAATCATAGTCTGTGGAAAGGTGTTGAATTGAGTATAATCTTCTT
CTGTTTATTTTTGTGTTTTGTTTTTTAACAGATGGGTATCTTGCTATGTTGCCCAGGATGGAGTGCAGTAGCTATTCACAGGTATGATCA
TAGCACACTGCAGCCTCAAGCTCCTGGGCTCAAGCGATCCCCCTCCCTCAGCCTCCCAAGTATCTGGGGTTACTGGTGTGCACCACCGTG
CTTGGCTCCAATAATTTTTTTTCTAATTCAAAAGTTACAGTTTCACTGTGAAAAAGGCCTTGAACACACTATTTATGACATCTTTTGAGG
CAGCTCCAGTGCCTTGACTTCAATCCCAGTTTCCGGTTGCAGCATCCTTGTTGTCTTAGCAACACAGTGAACTATTCTGAAGCATAGAGT
AACACGAAACTGGGAGTCCGAGAAATAATCATCTCTGCATCACATTATGGGAGACGAAGTCTGCTTTATCCATTTTATCTTTATTCAGTT
GTCTATGATTAATTGATTACAGAGTAGTAGATTAGAATAGTGCATGGATATACATTTGTGTTGAAAAAAGGGGAAGTTGATATATATCAA
TCTTAGTTTTCATTTATCAGTTTGATATTCATGCATTTACACTAAACGCTTCCATTTATCCCGAAAAAGTATATGCAACTGTATTCTGTA
GGTTGATTTTTGGAAAAGGGGAGAAGCACACTGAATTCATAAGGTCACATGTAGTCTTAAGGTCTTACTTGCTTACAGCCAATTAAATTT
GAAGCACCTTATTTATACTTGTTAAAGGTAAAACCCAAAAGAACAAGCAGAGGACATTTTAAGGTCATAAAAGGTAAATAAGCTTACCTT
CTTAATGTTTTCATTCTCTTTTTGTATAAATCAGAAAATGATCTAAACTGCTGTAACAAAGAGACCCCAAAATATGATGGCTCATGTAAG
ATAATTTATTTTTTTCTCACATAGCAATCCAGAAGTGGCTTCATTTCACAAGGTATTCAAGGGATATAGGAGTCATCTACCTTGTTAGTT
CTCTTAATACCCAAGGGTATTGTTCTTTCCATGGTCAAAGCTGGCTCAAGACTTCCTAGCCTGTGAAAAAAGAAGAAGGTGGAGCAAGCC
ATTTCCTTTTTAGGAAATTACAGCCATCACTTCTGCCCACCGTCCATTCATGAATACTTACTATATAGCTATACCTAGCTTCAAGAAAGC
CTGGGACGTGTCTCTAACTAGATGGACATGTGCCCTACTAAAACTCCAGGGAAAGGGTTCTATTACTAAAGCTAAAAAGAGGGGAATGAA
TACTAGAGTTAAAGACAAAAATGATAGCAGCCAATGGCCCATGCCGTGATAATCTGCTGAGCAGGCATGATGGAGATCCCTTGCCCAGCA
GAAAGTGTTCCTTGGTGAAATCATGAATCTGCTATCTAGGAGAAACTCCCTTGTCCATTGTCTTCTGTGGCCACTAGTTTGACCTCTAGG
AAAGTCTTGCTCGTCAGCTTCTGTGGCCCCGTCTGAAACTTTTGAGGGACATCGCAGCTTTTGCAGCCCCTGCTTGCTGGTGCAGACTTT
TAGACCTAGATTGCCTTAGAGACTGAAAAATATACGCTTTTATAGGCCGGGGTTTTAGTTCATTTGACTGTAATAAAGACGTCAATGCCG
TTTTTAATGTTTGACTGCTGACATCTTTCAAGACTCACCTTTCCCTTCTCCCTTATGCTGCACATCTGGGCAAGCTGATGGAAGCATGGG
TGCCTCCTCCTTTGGCCCCAGCAGGAAGTTCAAATCACGCAAGCCCTGGCATGCATGCAGGAAGCTTCACCCCAGCCTCACACTCTAAGA
CGGATAAAAGCCAAACCAATTAAGCCGTTTCTCGACCCTCCTGGGAGCCTGCCCTATCTCCCTGGAAAGTCTCAGTATGTGAGTAATAAA

>13852_13852_1_CCDC59-KCNMB4_CCDC59_chr12_82748274_ENST00000256151_KCNMB4_chr12_70824265_ENST00000258111_length(amino acids)=202AA_BP=
MLYFQFSSKSKALSLANAPHEGLRVVRPPCLLSHILIPVPDSGNPFTTRLNTTRPPLRGPPHRRHCSRLTASSEDHDGRPQNTSPSRSNQ
SLRRNPARSSTEPACANLGRAGASRPCLRHLQPRRVSVMAASCPLPVTPDLPTLRAKLQGLLQFLRDALSISNAHTVDFYTESVWEELVD

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Fusion Gene PPI Analysis for CCDC59-KCNMB4


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs for CCDC59-KCNMB4


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for CCDC59-KCNMB4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource