Fusion Gene Studies
in Kim Lab

FusionBase FusionGDB FusionGDB2 FusionPDB FusionNeoAntigen FusionAI FusionNW FGviewer Publication Contact
FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:CAMKMT-DGKI (FusionGDB2 ID:HG79823TG9162)

Fusion Gene Summary for CAMKMT-DGKI

check button Fusion gene summary
Fusion gene informationFusion gene name: CAMKMT-DGKI
Fusion gene ID: hg79823tg9162
HgeneTgene
Gene symbol

CAMKMT

DGKI

Gene ID

79823

9162

Gene namecalmodulin-lysine N-methyltransferasediacylglycerol kinase iota
SynonymsC2orf34|CLNMT|CaM KMT|Cam|KMTDGK-IOTA
Cytomap('CAMKMT')('DGKI')

2p21

7q33

Type of geneprotein-codingprotein-coding
Descriptioncalmodulin-lysine N-methyltransferasediacylglycerol kinase iotaDAG kinase iotadiglyceride kinase iota
Modification date2020031320200313
UniProtAcc.

O75912

Ensembl transtripts involved in fusion geneENST00000378494, ENST00000402247, 
ENST00000403853, ENST00000407131, 
ENST00000477623, 
Fusion gene scores* DoF score4 X 4 X 3=488 X 9 X 3=216
# samples 49
** MAII scorelog2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(9/216*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CAMKMT [Title/Abstract] AND DGKI [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCAMKMT(44924147)-DGKI(137190447), # 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
TgeneDGKI

GO:0046834

lipid phosphorylation

9830018



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
ChiTaRS5.0N/ADL057737CAMKMTchr2

44924147

+DGKIchr7

137190447

+


Top

Fusion Gene ORF analysis for CAMKMT-DGKI

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
intron-intronENST00000378494ENST00000288490CAMKMTchr2

44924147

+DGKIchr7

137190447

+
intron-intronENST00000378494ENST00000424189CAMKMTchr2

44924147

+DGKIchr7

137190447

+
intron-intronENST00000378494ENST00000446122CAMKMTchr2

44924147

+DGKIchr7

137190447

+
intron-intronENST00000378494ENST00000453654CAMKMTchr2

44924147

+DGKIchr7

137190447

+
intron-intronENST00000378494ENST00000494390CAMKMTchr2

44924147

+DGKIchr7

137190447

+
intron-intronENST00000402247ENST00000288490CAMKMTchr2

44924147

+DGKIchr7

137190447

+
intron-intronENST00000402247ENST00000424189CAMKMTchr2

44924147

+DGKIchr7

137190447

+
intron-intronENST00000402247ENST00000446122CAMKMTchr2

44924147

+DGKIchr7

137190447

+
intron-intronENST00000402247ENST00000453654CAMKMTchr2

44924147

+DGKIchr7

137190447

+
intron-intronENST00000402247ENST00000494390CAMKMTchr2

44924147

+DGKIchr7

137190447

+
intron-intronENST00000403853ENST00000288490CAMKMTchr2

44924147

+DGKIchr7

137190447

+
intron-intronENST00000403853ENST00000424189CAMKMTchr2

44924147

+DGKIchr7

137190447

+
intron-intronENST00000403853ENST00000446122CAMKMTchr2

44924147

+DGKIchr7

137190447

+
intron-intronENST00000403853ENST00000453654CAMKMTchr2

44924147

+DGKIchr7

137190447

+
intron-intronENST00000403853ENST00000494390CAMKMTchr2

44924147

+DGKIchr7

137190447

+
intron-intronENST00000407131ENST00000288490CAMKMTchr2

44924147

+DGKIchr7

137190447

+
intron-intronENST00000407131ENST00000424189CAMKMTchr2

44924147

+DGKIchr7

137190447

+
intron-intronENST00000407131ENST00000446122CAMKMTchr2

44924147

+DGKIchr7

137190447

+
intron-intronENST00000407131ENST00000453654CAMKMTchr2

44924147

+DGKIchr7

137190447

+
intron-intronENST00000407131ENST00000494390CAMKMTchr2

44924147

+DGKIchr7

137190447

+
intron-intronENST00000477623ENST00000288490CAMKMTchr2

44924147

+DGKIchr7

137190447

+
intron-intronENST00000477623ENST00000424189CAMKMTchr2

44924147

+DGKIchr7

137190447

+
intron-intronENST00000477623ENST00000446122CAMKMTchr2

44924147

+DGKIchr7

137190447

+
intron-intronENST00000477623ENST00000453654CAMKMTchr2

44924147

+DGKIchr7

137190447

+
intron-intronENST00000477623ENST00000494390CAMKMTchr2

44924147

+DGKIchr7

137190447

+

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)

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

Top

Fusion Genomic Features for CAMKMT-DGKI


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)


Top

Fusion Protein Features for CAMKMT-DGKI


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/:44924147/:137190447)
- 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
.DGKI

O75912

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: Diacylglycerol kinase that converts diacylglycerol/DAG into phosphatidic acid/phosphatidate/PA and regulates the respective levels of these two bioactive lipids (PubMed:9830018, PubMed:23949095). Thereby, acts as a central switch between the signaling pathways activated by these second messengers with different cellular targets and opposite effects in numerous biological processes (Probable). Has probably no preference for any of the diacylglycerols in terms of the acyl chain composition, especially for the acyl chain at the sn-2 position (PubMed:9830018). By controlling the diacylglycerol/DAG-mediated activation of RASGRP3, negatively regulates the Rap1 signaling pathway. May play a role in presynaptic diacylglycerol/DAG signaling and control neurotransmitter release during metabotropic glutamate receptor-dependent long-term depression (By similarity). {ECO:0000250|UniProtKB:D3YWQ0, ECO:0000269|PubMed:23949095, ECO:0000269|PubMed:9830018, ECO:0000305}.

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


Top

Fusion Gene Sequence for CAMKMT-DGKI


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.

Top

Fusion Gene PPI Analysis for CAMKMT-DGKI


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


Top

Related Drugs for CAMKMT-DGKI


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

Top

Related Diseases for CAMKMT-DGKI


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCAMKMTC0008073Developmental Disabilities1CTD_human
HgeneCAMKMTC0011757Developmental Coordination Disorder1CTD_human
HgeneCAMKMTC0023186Learning Disorders1CTD_human
HgeneCAMKMTC0026613Motor Skills Disorders1CTD_human
HgeneCAMKMTC0085996Child Development Deviations1CTD_human
HgeneCAMKMTC0085997Child Development Disorders, Specific1CTD_human
HgeneCAMKMTC0151786Muscle Weakness1CTD_human
HgeneCAMKMTC0162668Megaconial Myopathies1CTD_human
HgeneCAMKMTC0162669Pleoconial Myopathies1CTD_human
HgeneCAMKMTC0162670Mitochondrial Myopathies1CTD_human
HgeneCAMKMTC0751262Adult Learning Disorders1CTD_human
HgeneCAMKMTC0751263Learning Disturbance1CTD_human
HgeneCAMKMTC0751265Learning Disabilities1CTD_human
HgeneCAMKMTC0949496Luft Disease1CTD_human
HgeneCAMKMTC1330966Developmental Academic Disorder1CTD_human
HgeneCAMKMTC1848030Hypotonia-Cystinuria Syndrome1CTD_human
HgeneCAMKMTC43045372p21 microdeletion syndrome1ORPHANET
HgeneCAMKMTC47494582p21 microdeletion syndrome without cystinuria1ORPHANET