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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:ZNF480-CKM (FusionGDB2 ID:102182)

Fusion Gene Summary for ZNF480-CKM

check button Fusion gene summary
Fusion gene informationFusion gene name: ZNF480-CKM
Fusion gene ID: 102182
HgeneTgene
Gene symbol

ZNF480

CKM

Gene ID

147657

1158

Gene namezinc finger protein 480creatine kinase, M-type
Synonyms-CKMM|CPK-M|M-CK
Cytomap

19q13.41

19q13.32

Type of geneprotein-codingprotein-coding
Descriptionzinc finger protein 480creatine kinase M-typecreatine kinase M chaincreatine kinase, musclecreatine phosphokinase M-type
Modification date2020031320200313
UniProtAcc.

P12532

Ensembl transtripts involved in fusion geneENST00000335090, ENST00000595962, 
ENST00000334564, ENST00000490272, 
ENST00000221476, 
Fusion gene scores* DoF score4 X 2 X 4=326 X 5 X 5=150
# samples 46
** MAII scorelog2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(6/150*10)=-1.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ZNF480 [Title/Abstract] AND CKM [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointZNF480(52819215)-CKM(45815178), # 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

check buttonFusion gene breakpoints across ZNF480 (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 CKM (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
ChimerDB4LUSCTCGA-90-7767-01AZNF480chr19

52819215

-CKMchr19

45815178

-


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Fusion Gene ORF analysis for ZNF480-CKM

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
In-frameENST00000335090ENST00000221476ZNF480chr19

52819215

-CKMchr19

45815178

-
In-frameENST00000595962ENST00000221476ZNF480chr19

52819215

-CKMchr19

45815178

-
intron-3CDSENST00000334564ENST00000221476ZNF480chr19

52819215

-CKMchr19

45815178

-
intron-3CDSENST00000490272ENST00000221476ZNF480chr19

52819215

-CKMchr19

45815178

-

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)
ENST00000595962ZNF480chr1952819215-ENST00000221476CKMchr1945815178-1395394661058330
ENST00000335090ZNF480chr1952819215-ENST00000221476CKMchr1945815178-1221220108884258

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
ENST00000595962ENST00000221476ZNF480chr1952819215-CKMchr1945815178-0.0101438610.9898561
ENST00000335090ENST00000221476ZNF480chr1952819215-CKMchr1945815178-0.0206565350.97934353

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Fusion Genomic Features for ZNF480-CKM


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)

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.

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Fusion Protein Features for ZNF480-CKM


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/chr19:52819215/chr19:45815178)
- 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
.CKM

P12532

FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Reversibly catalyzes the transfer of phosphate between ATP and various phosphogens (e.g. creatine phosphate). Creatine kinase isoenzymes play a central role in energy transduction in tissues with large, fluctuating energy demands, such as skeletal muscle, heart, brain and spermatozoa.

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
HgeneZNF480chr19:52819215chr19:45815178ENST00000595962-4527_98109536.0DomainKRAB
TgeneCKMchr19:52819215chr19:45815178ENST0000022147638320_325160382.0Nucleotide bindingATP

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneZNF480chr19:52819215chr19:45815178ENST00000335090-2327_9832459.0DomainKRAB
HgeneZNF480chr19:52819215chr19:45815178ENST00000335090-23203_22532459.0Zinc fingerC2H2-type 1%3B atypical
HgeneZNF480chr19:52819215chr19:45815178ENST00000335090-23231_25332459.0Zinc fingerC2H2-type 2
HgeneZNF480chr19:52819215chr19:45815178ENST00000335090-23259_28132459.0Zinc fingerC2H2-type 3
HgeneZNF480chr19:52819215chr19:45815178ENST00000335090-23287_30932459.0Zinc fingerC2H2-type 4
HgeneZNF480chr19:52819215chr19:45815178ENST00000335090-23315_33732459.0Zinc fingerC2H2-type 5%3B degenerate
HgeneZNF480chr19:52819215chr19:45815178ENST00000335090-23343_36532459.0Zinc fingerC2H2-type 6
HgeneZNF480chr19:52819215chr19:45815178ENST00000335090-23371_39332459.0Zinc fingerC2H2-type 7
HgeneZNF480chr19:52819215chr19:45815178ENST00000335090-23399_42132459.0Zinc fingerC2H2-type 8
HgeneZNF480chr19:52819215chr19:45815178ENST00000335090-23427_44932459.0Zinc fingerC2H2-type 9
HgeneZNF480chr19:52819215chr19:45815178ENST00000335090-23455_47732459.0Zinc fingerC2H2-type 10
HgeneZNF480chr19:52819215chr19:45815178ENST00000335090-23483_50532459.0Zinc fingerC2H2-type 11
HgeneZNF480chr19:52819215chr19:45815178ENST00000335090-23511_53332459.0Zinc fingerC2H2-type 12
HgeneZNF480chr19:52819215chr19:45815178ENST00000595962-45203_225109536.0Zinc fingerC2H2-type 1%3B atypical
HgeneZNF480chr19:52819215chr19:45815178ENST00000595962-45231_253109536.0Zinc fingerC2H2-type 2
HgeneZNF480chr19:52819215chr19:45815178ENST00000595962-45259_281109536.0Zinc fingerC2H2-type 3
HgeneZNF480chr19:52819215chr19:45815178ENST00000595962-45287_309109536.0Zinc fingerC2H2-type 4
HgeneZNF480chr19:52819215chr19:45815178ENST00000595962-45315_337109536.0Zinc fingerC2H2-type 5%3B degenerate
HgeneZNF480chr19:52819215chr19:45815178ENST00000595962-45343_365109536.0Zinc fingerC2H2-type 6
HgeneZNF480chr19:52819215chr19:45815178ENST00000595962-45371_393109536.0Zinc fingerC2H2-type 7
HgeneZNF480chr19:52819215chr19:45815178ENST00000595962-45399_421109536.0Zinc fingerC2H2-type 8
HgeneZNF480chr19:52819215chr19:45815178ENST00000595962-45427_449109536.0Zinc fingerC2H2-type 9
HgeneZNF480chr19:52819215chr19:45815178ENST00000595962-45455_477109536.0Zinc fingerC2H2-type 10
HgeneZNF480chr19:52819215chr19:45815178ENST00000595962-45483_505109536.0Zinc fingerC2H2-type 11
HgeneZNF480chr19:52819215chr19:45815178ENST00000595962-45511_533109536.0Zinc fingerC2H2-type 12
TgeneCKMchr19:52819215chr19:45815178ENST000002214763811_98160382.0DomainPhosphagen kinase N-terminal
TgeneCKMchr19:52819215chr19:45815178ENST0000022147638125_367160382.0DomainPhosphagen kinase C-terminal
TgeneCKMchr19:52819215chr19:45815178ENST0000022147638128_132160382.0Nucleotide bindingATP


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Fusion Gene Sequence for ZNF480-CKM


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.
>102182_102182_1_ZNF480-CKM_ZNF480_chr19_52819215_ENST00000335090_CKM_chr19_45815178_ENST00000221476_length(transcript)=1221nt_BP=220nt
GATTGACTTCTAAAGAGTCATGCTGTGTGATGAAAAAGCCCAGAAGAGAAGGAAGAGGAAAGCAAAGGAGTCAGGGATGGCTCTTCCTCA
GGAATCTCTCTTCCTGACCTGAATATTAACTCCATGTTGGAGCAAAGGAGGGAGCCCTGGTCTGGTGAGAGTGAAGTGAAAATAGCAAAA
AATTCAGATGGGAGGGAGTGCATCAAAGGTGTGAACACAGCTCTCAACAGCCTGACGGGCGAGTTCAAAGGGAAGTACTACCCTCTGAAG
AGCATGACGGAGAAGGAGCAGCAGCAGCTCATCGATGACCACTTCCTGTTCGACAAGCCCGTGTCCCCGCTGCTGCTGGCCTCAGGCATG
GCCCGCGACTGGCCCGACGCCCGTGGCATCTGGCACAATGACAACAAGAGCTTCCTGGTGTGGGTGAACGAGGAGGATCACCTCCGGGTC
ATCTCCATGGAGAAGGGGGGCAACATGAAGGAGGTTTTCCGCCGCTTCTGCGTAGGGCTGCAGAAGATTGAGGAGATCTTTAAGAAAGCT
GGCCACCCCTTCATGTGGAACCAGCACCTGGGCTACGTGCTCACCTGCCCATCCAACCTGGGCACTGGGCTGCGTGGAGGCGTGCATGTG
AAGCTGGCGCACCTGAGCAAGCACCCCAAGTTCGAGGAGATCCTCACCCGCCTGCGTCTGCAGAAGAGGGGTACAGGTGGCGTGGACACA
GCTGCCGTGGGCTCAGTATTTGACGTGTCCAACGCTGATCGGCTGGGCTCGTCCGAAGTAGAACAGGTGCAGCTGGTGGTGGATGGTGTG
AAGCTCATGGTGGAAATGGAGAAGAAGTTGGAGAAAGGCCAGTCCATTGACGACATGATCCCCGCCCAGAAGTAGGCGCCTGCCCACCTG
CCACCGACTGCTGGAACCCAGCCAGTGGGAGGGCCTGGCCCACCAGAGTCCTGCTCCCTCACTCCTCGCCCCGCCCCCTGTCCCAGAGTC
CCACCTGGGGGCTCTCTCCACCCTTCTCAGAGTTCCAGTTTCAACCAGAGTTCCAACCAATGGGCTCCATCCTCTGGATTCTGGCCAATG
AAATATCTCCCTGGCAGGGTCCTCTTCTTTTCCCAGAGCTCCACCCCAACCAGGAGCTCTAGTTAATGGAGAGCTCCCAGCACACTCGGA

>102182_102182_1_ZNF480-CKM_ZNF480_chr19_52819215_ENST00000335090_CKM_chr19_45815178_ENST00000221476_length(amino acids)=258AA_BP=37
MNINSMLEQRREPWSGESEVKIAKNSDGRECIKGVNTALNSLTGEFKGKYYPLKSMTEKEQQQLIDDHFLFDKPVSPLLLASGMARDWPD
ARGIWHNDNKSFLVWVNEEDHLRVISMEKGGNMKEVFRRFCVGLQKIEEIFKKAGHPFMWNQHLGYVLTCPSNLGTGLRGGVHVKLAHLS

--------------------------------------------------------------
>102182_102182_2_ZNF480-CKM_ZNF480_chr19_52819215_ENST00000595962_CKM_chr19_45815178_ENST00000221476_length(transcript)=1395nt_BP=394nt
ACAAACCCGGAAGCGGATCGCGTGGAGTGAAGGTCACGCCGCGGCGCGATTGACTTCTAAAGAGTCATGCTGTGTGATGAAAAAGCCCAG
AAGAGAAGGAAGAGGAAAGCAAAGGAGTCAGGGATGGCTCTTCCTCAGGGACACTTAACATTCAGGGACGTGGCCATAGAATTCTCTCAG
GCGGAGTGGAAATGCCTGGACCCTGCACAGAGGGCTTTATACAAGGATGTGATGTTGGAGAACTACAGGAACCTGGTCTCCCTGGGAATC
TCTCTTCCTGACCTGAATATTAACTCCATGTTGGAGCAAAGGAGGGAGCCCTGGTCTGGTGAGAGTGAAGTGAAAATAGCAAAAAATTCA
GATGGGAGGGAGTGCATCAAAGGTGTGAACACAGCTCTCAACAGCCTGACGGGCGAGTTCAAAGGGAAGTACTACCCTCTGAAGAGCATG
ACGGAGAAGGAGCAGCAGCAGCTCATCGATGACCACTTCCTGTTCGACAAGCCCGTGTCCCCGCTGCTGCTGGCCTCAGGCATGGCCCGC
GACTGGCCCGACGCCCGTGGCATCTGGCACAATGACAACAAGAGCTTCCTGGTGTGGGTGAACGAGGAGGATCACCTCCGGGTCATCTCC
ATGGAGAAGGGGGGCAACATGAAGGAGGTTTTCCGCCGCTTCTGCGTAGGGCTGCAGAAGATTGAGGAGATCTTTAAGAAAGCTGGCCAC
CCCTTCATGTGGAACCAGCACCTGGGCTACGTGCTCACCTGCCCATCCAACCTGGGCACTGGGCTGCGTGGAGGCGTGCATGTGAAGCTG
GCGCACCTGAGCAAGCACCCCAAGTTCGAGGAGATCCTCACCCGCCTGCGTCTGCAGAAGAGGGGTACAGGTGGCGTGGACACAGCTGCC
GTGGGCTCAGTATTTGACGTGTCCAACGCTGATCGGCTGGGCTCGTCCGAAGTAGAACAGGTGCAGCTGGTGGTGGATGGTGTGAAGCTC
ATGGTGGAAATGGAGAAGAAGTTGGAGAAAGGCCAGTCCATTGACGACATGATCCCCGCCCAGAAGTAGGCGCCTGCCCACCTGCCACCG
ACTGCTGGAACCCAGCCAGTGGGAGGGCCTGGCCCACCAGAGTCCTGCTCCCTCACTCCTCGCCCCGCCCCCTGTCCCAGAGTCCCACCT
GGGGGCTCTCTCCACCCTTCTCAGAGTTCCAGTTTCAACCAGAGTTCCAACCAATGGGCTCCATCCTCTGGATTCTGGCCAATGAAATAT
CTCCCTGGCAGGGTCCTCTTCTTTTCCCAGAGCTCCACCCCAACCAGGAGCTCTAGTTAATGGAGAGCTCCCAGCACACTCGGAGCTTGT

>102182_102182_2_ZNF480-CKM_ZNF480_chr19_52819215_ENST00000595962_CKM_chr19_45815178_ENST00000221476_length(amino acids)=330AA_BP=109
MLCDEKAQKRRKRKAKESGMALPQGHLTFRDVAIEFSQAEWKCLDPAQRALYKDVMLENYRNLVSLGISLPDLNINSMLEQRREPWSGES
EVKIAKNSDGRECIKGVNTALNSLTGEFKGKYYPLKSMTEKEQQQLIDDHFLFDKPVSPLLLASGMARDWPDARGIWHNDNKSFLVWVNE
EDHLRVISMEKGGNMKEVFRRFCVGLQKIEEIFKKAGHPFMWNQHLGYVLTCPSNLGTGLRGGVHVKLAHLSKHPKFEEILTRLRLQKRG

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Fusion Gene PPI Analysis for ZNF480-CKM


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 ZNF480-CKM


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 ZNF480-CKM


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