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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:CAMK1D-CDC123 (FusionGDB2 ID:HG57118TG8872)

Fusion Gene Summary for CAMK1D-CDC123

check button Fusion gene summary
Fusion gene informationFusion gene name: CAMK1D-CDC123
Fusion gene ID: hg57118tg8872
HgeneTgene
Gene symbol

CAMK1D

CDC123

Gene ID

57118

8872

Gene namecalcium/calmodulin dependent protein kinase IDcell division cycle 123
SynonymsCKLiK|CaM-K1|CaMKIDC10orf7|D123
Cytomap('CAMK1D')('CDC123')

10p13

10p14-p13

Type of geneprotein-codingprotein-coding
Descriptioncalcium/calmodulin-dependent protein kinase type 1DCAMK1D/ANAPC5 fusionCaM kinase IDCamKI-like protein kinasecaM kinase I deltacaM-KI deltacaMKI deltacell division cycle protein 123 homologHT-1080PZ32cell division cycle 123 homolog
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000487696, ENST00000378845, 
ENST00000378847, 
Fusion gene scores* DoF score24 X 22 X 7=369610 X 9 X 8=720
# samples 2811
** MAII scorelog2(28/3696*10)=-3.72246602447109
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(11/720*10)=-2.71049338280502
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CAMK1D [Title/Abstract] AND CDC123 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCAMK1D(12391909)-CDC123(12272947), # samples:1
Anticipated loss of major functional domain due to fusion event.CAMK1D-CDC123 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
CAMK1D-CDC123 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
* 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
HgeneCAMK1D

GO:0032793

positive regulation of CREB transcription factor activity

16324104


check buttonFusion gene breakpoints across CAMK1D (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 CDC123 (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
ChimerDB4BRCATCGA-BH-A1FM-01ACAMK1Dchr10

12391909

+CDC123chr10

12272947

+


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Fusion Gene ORF analysis for CAMK1D-CDC123

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
3UTR-3CDSENST00000487696ENST00000281141CAMK1Dchr10

12391909

+CDC123chr10

12272947

+
3UTR-3UTRENST00000487696ENST00000378900CAMK1Dchr10

12391909

+CDC123chr10

12272947

+
3UTR-3UTRENST00000487696ENST00000455773CAMK1Dchr10

12391909

+CDC123chr10

12272947

+
5CDS-3UTRENST00000378845ENST00000378900CAMK1Dchr10

12391909

+CDC123chr10

12272947

+
5CDS-3UTRENST00000378845ENST00000455773CAMK1Dchr10

12391909

+CDC123chr10

12272947

+
5CDS-3UTRENST00000378847ENST00000378900CAMK1Dchr10

12391909

+CDC123chr10

12272947

+
5CDS-3UTRENST00000378847ENST00000455773CAMK1Dchr10

12391909

+CDC123chr10

12272947

+
In-frameENST00000378845ENST00000281141CAMK1Dchr10

12391909

+CDC123chr10

12272947

+
In-frameENST00000378847ENST00000281141CAMK1Dchr10

12391909

+CDC123chr10

12272947

+

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)
ENST00000378847CAMK1Dchr1012391909+ENST00000281141CDC123chr1012272947+1251429337999220
ENST00000378845CAMK1Dchr1012391909+ENST00000281141CDC123chr1012272947+100017886748220

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
ENST00000378847ENST00000281141CAMK1Dchr1012391909+CDC123chr1012272947+0.0039795630.9960205
ENST00000378845ENST00000281141CAMK1Dchr1012391909+CDC123chr1012272947+0.0022116560.9977883

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Fusion Genomic Features for CAMK1D-CDC123


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)
CAMK1Dchr1012391909+CDC123chr1012272946+5.25E-101
CAMK1Dchr1012391909+CDC123chr1012272946+5.25E-101

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 CAMK1D-CDC123


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/chr10:12391909/chr10:12272947)
- 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
..
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: 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}.

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

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneCAMK1Dchr10:12391909chr10:12272947ENST00000378845+110326_36430358.0Compositional biasNote=Ser-rich
HgeneCAMK1Dchr10:12391909chr10:12272947ENST00000378847+111326_36430386.0Compositional biasNote=Ser-rich
HgeneCAMK1Dchr10:12391909chr10:12272947ENST00000378845+11023_27930358.0DomainProtein kinase
HgeneCAMK1Dchr10:12391909chr10:12272947ENST00000378847+11123_27930386.0DomainProtein kinase
HgeneCAMK1Dchr10:12391909chr10:12272947ENST00000378845+110318_32430358.0MotifNuclear export signal
HgeneCAMK1Dchr10:12391909chr10:12272947ENST00000378847+111318_32430386.0MotifNuclear export signal
HgeneCAMK1Dchr10:12391909chr10:12272947ENST00000378845+11029_3730358.0Nucleotide bindingATP
HgeneCAMK1Dchr10:12391909chr10:12272947ENST00000378847+11129_3730386.0Nucleotide bindingATP
HgeneCAMK1Dchr10:12391909chr10:12272947ENST00000378845+110279_31930358.0RegionAutoinhibitory domain
HgeneCAMK1Dchr10:12391909chr10:12272947ENST00000378845+110299_32030358.0RegionCalmodulin-binding
HgeneCAMK1Dchr10:12391909chr10:12272947ENST00000378847+111279_31930386.0RegionAutoinhibitory domain
HgeneCAMK1Dchr10:12391909chr10:12272947ENST00000378847+111299_32030386.0RegionCalmodulin-binding


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Fusion Gene Sequence for CAMK1D-CDC123


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.
>12637_12637_1_CAMK1D-CDC123_CAMK1D_chr10_12391909_ENST00000378845_CDC123_chr10_12272947_ENST00000281141_length(transcript)=1000nt_BP=178nt
CCCGCCGCCTCTGCGCCCGCGCCGCGCCCCCGGCGCCCCCTCCCCAGCGCGCCCCCGGCCGCTCCTCCGCGCCGCGCTCGTCGGCCATGG
CCCGGGAGAACGGCGAGAGCAGCTCCTCCTGGAAAAAGCAAGCTGAAGACATCAAGAAGATCTTCGAGTTCAAAGAGACCCTCGGAACGT
TTATTCATTGTACTGATGATTCTCCAGATCCATGTATAGAATATGAGCTCGTTCTCCGAAAATGGTGTGAATTGATTCCTGGGGCTGAGT
TTCGATGTTTTGTCAAGGAAAACAAGCTTATTGGTATTTCTCAAAGAGACTACACACAATACTATGATCATATTTCTAAACAAAAGGAAG
AAATTCGCAGATGCATACAAGACTTTTTCAAGAAACACATACAGTACAAATTCTTAGATGAAGACTTTGTGTTCGATATATACAGAGACA
GTAGGGGGAAGGTGTGGCTCATTGACTTTAATCCATTTGGTGAAGTCACAGATTCACTGCTGTTCACCTGGGAAGAACTGATATCTGAGA
ACAACTTAAACGGCGATTTTAGTGAAGTTGACGCTCAAGAGCAGGATTCCCCAGCTTTCCGTTGCACAAACAGTGAAGTGACAGTCCAGC
CCAGCCCCTATTTGAGTTACCGGCTACCCAAGGACTTTGTAGACCTCTCTACTGGGGAGGACGCTCACAAGCTAATAGACTTCCTTAAGC
TGAAGAGAAATCAGCAGGAGGACGACTGATGAGCGTACTGGAACTGGAGAAGAGGAGGCCCCGCCCCACCGCTCCGGGAGCTGCTCATCA
GCCGCAACTTCCTGCCGACCCTGATGCGGGTGGGCCGAGCAGTGTGGACATCAGCCACTTTTTATATTCATGTACATTCACCTGGGGAAA
AAAACGGAGGGACTTTGCTACTTGTAAAAATAACATAATAAATAGATCTTAAACATAGGAAAACCATACTGTTCTGATAATAAAATGCTT

>12637_12637_1_CAMK1D-CDC123_CAMK1D_chr10_12391909_ENST00000378845_CDC123_chr10_12272947_ENST00000281141_length(amino acids)=220AA_BP=31
MARENGESSSSWKKQAEDIKKIFEFKETLGTFIHCTDDSPDPCIEYELVLRKWCELIPGAEFRCFVKENKLIGISQRDYTQYYDHISKQK
EEIRRCIQDFFKKHIQYKFLDEDFVFDIYRDSRGKVWLIDFNPFGEVTDSLLFTWEELISENNLNGDFSEVDAQEQDSPAFRCTNSEVTV

--------------------------------------------------------------
>12637_12637_2_CAMK1D-CDC123_CAMK1D_chr10_12391909_ENST00000378847_CDC123_chr10_12272947_ENST00000281141_length(transcript)=1251nt_BP=429nt
GGAGGAGGCGCGAGGTGGGGGGGAGCGCGGCGGGCGGCAGGGAGGGAGCGGGAGGGAGGCAAGAAAGTAGCAGAAAGTGAGGCTGGCAGG
CGGCGGCAAAGGAGCCGGCGCGCGGCGGCGGCAGGAAGTCTGTGCCCGAGAACAGCAGAAATAAGAGCCAGGGAGGGACCGCGGCCGCGG
CGGCGGCGGCGAGAGCGAAAGAGGAAACTGCAGAGGAGGAAGCTGCGCCGCAGCCCGAGCCGCCCGGCATCCCCGCCGCCTCTGCGCCCG
CGCCGCGCCCCCGGCGCCCCCTCCCCAGCGCGCCCCCGGCCGCTCCTCCGCGCCGCGCTCGTCGGCCATGGCCCGGGAGAACGGCGAGAG
CAGCTCCTCCTGGAAAAAGCAAGCTGAAGACATCAAGAAGATCTTCGAGTTCAAAGAGACCCTCGGAACGTTTATTCATTGTACTGATGA
TTCTCCAGATCCATGTATAGAATATGAGCTCGTTCTCCGAAAATGGTGTGAATTGATTCCTGGGGCTGAGTTTCGATGTTTTGTCAAGGA
AAACAAGCTTATTGGTATTTCTCAAAGAGACTACACACAATACTATGATCATATTTCTAAACAAAAGGAAGAAATTCGCAGATGCATACA
AGACTTTTTCAAGAAACACATACAGTACAAATTCTTAGATGAAGACTTTGTGTTCGATATATACAGAGACAGTAGGGGGAAGGTGTGGCT
CATTGACTTTAATCCATTTGGTGAAGTCACAGATTCACTGCTGTTCACCTGGGAAGAACTGATATCTGAGAACAACTTAAACGGCGATTT
TAGTGAAGTTGACGCTCAAGAGCAGGATTCCCCAGCTTTCCGTTGCACAAACAGTGAAGTGACAGTCCAGCCCAGCCCCTATTTGAGTTA
CCGGCTACCCAAGGACTTTGTAGACCTCTCTACTGGGGAGGACGCTCACAAGCTAATAGACTTCCTTAAGCTGAAGAGAAATCAGCAGGA
GGACGACTGATGAGCGTACTGGAACTGGAGAAGAGGAGGCCCCGCCCCACCGCTCCGGGAGCTGCTCATCAGCCGCAACTTCCTGCCGAC
CCTGATGCGGGTGGGCCGAGCAGTGTGGACATCAGCCACTTTTTATATTCATGTACATTCACCTGGGGAAAAAAACGGAGGGACTTTGCT

>12637_12637_2_CAMK1D-CDC123_CAMK1D_chr10_12391909_ENST00000378847_CDC123_chr10_12272947_ENST00000281141_length(amino acids)=220AA_BP=31
MARENGESSSSWKKQAEDIKKIFEFKETLGTFIHCTDDSPDPCIEYELVLRKWCELIPGAEFRCFVKENKLIGISQRDYTQYYDHISKQK
EEIRRCIQDFFKKHIQYKFLDEDFVFDIYRDSRGKVWLIDFNPFGEVTDSLLFTWEELISENNLNGDFSEVDAQEQDSPAFRCTNSEVTV

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Fusion Gene PPI Analysis for CAMK1D-CDC123


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 CAMK1D-CDC123


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 CAMK1D-CDC123


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