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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:DDX3X-MLLT10 (FusionGDB2 ID:HG1654TG8028)

Fusion Gene Summary for DDX3X-MLLT10

check button Fusion gene summary
Fusion gene informationFusion gene name: DDX3X-MLLT10
Fusion gene ID: hg1654tg8028
HgeneTgene
Gene symbol

DDX3X

MLLT10

Gene ID

1654

8028

Gene nameDEAD-box helicase 3 X-linkedMLLT10 histone lysine methyltransferase DOT1L cofactor
SynonymsCAP-Rf|DBX|DDX14|DDX3|HLP2|MRX102AF10
Cytomap('DDX3X')('MLLT10')

Xp11.4

10p12.31

Type of geneprotein-codingprotein-coding
DescriptionATP-dependent RNA helicase DDX3XDEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linkedDEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linkedDEAD box protein 3, X-chromosomalDEAD box, X isoformDEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3DEAD/H box-3helicase-protein AF-10ALL1-fused gene from chromosome 10 proteinmyeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10myeloid/lymphoid or mixed-lineage leukemia; translocated to, 10type I AF10 proteintype III AF10 prot
Modification date2020032920200313
UniProtAcc.

P55197

Ensembl transtripts involved in fusion geneENST00000399959, ENST00000441189, 
ENST00000457138, ENST00000478993, 
ENST00000542215, 
Fusion gene scores* DoF score8 X 9 X 6=43217 X 30 X 5=2550
# samples 830
** MAII scorelog2(8/432*10)=-2.43295940727611
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(30/2550*10)=-3.08746284125034
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DDX3X [Title/Abstract] AND MLLT10 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint
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
HgeneDDX3X

GO:0009615

response to virus

18636090

HgeneDDX3X

GO:0010501

RNA secondary structure unwinding

22872150

HgeneDDX3X

GO:0010628

positive regulation of gene expression

10074132

HgeneDDX3X

GO:0030308

negative regulation of cell growth

16818630

HgeneDDX3X

GO:0031333

negative regulation of protein complex assembly

17667941

HgeneDDX3X

GO:0031954

positive regulation of protein autophosphorylation

30341167

HgeneDDX3X

GO:0032727

positive regulation of interferon-alpha production

30341167

HgeneDDX3X

GO:0032728

positive regulation of interferon-beta production

27980081

HgeneDDX3X

GO:0034063

stress granule assembly

21883093

HgeneDDX3X

GO:0034157

positive regulation of toll-like receptor 7 signaling pathway

30341167

HgeneDDX3X

GO:0034161

positive regulation of toll-like receptor 8 signaling pathway

30341167

HgeneDDX3X

GO:0035556

intracellular signal transduction

18636090

HgeneDDX3X

GO:0045727

positive regulation of translation

18596238|22872150

HgeneDDX3X

GO:0045944

positive regulation of transcription by RNA polymerase II

16818630|18636090|28128295

HgeneDDX3X

GO:0071243

cellular response to arsenic-containing substance

21883093

HgeneDDX3X

GO:0071470

cellular response to osmotic stress

21883093

HgeneDDX3X

GO:0071902

positive regulation of protein serine/threonine kinase activity

23413191

HgeneDDX3X

GO:1902523

positive regulation of protein K63-linked ubiquitination

27980081

TgeneMLLT10

GO:0045944

positive regulation of transcription by RNA polymerase II

17868029



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
ChimerKB4..DDX3XchrX

41196660

+MLLT10chr10

41196660

+


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Fusion Gene ORF analysis for DDX3X-MLLT10

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-intronENST00000399959ENST00000307729DDX3XchrX

41196660

+MLLT10chr10

41196660

+
intron-intronENST00000399959ENST00000377059DDX3XchrX

41196660

+MLLT10chr10

41196660

+
intron-intronENST00000399959ENST00000377072DDX3XchrX

41196660

+MLLT10chr10

41196660

+
intron-intronENST00000399959ENST00000377091DDX3XchrX

41196660

+MLLT10chr10

41196660

+
intron-intronENST00000399959ENST00000377100DDX3XchrX

41196660

+MLLT10chr10

41196660

+
intron-intronENST00000399959ENST00000446906DDX3XchrX

41196660

+MLLT10chr10

41196660

+
intron-intronENST00000399959ENST00000495130DDX3XchrX

41196660

+MLLT10chr10

41196660

+
intron-intronENST00000441189ENST00000307729DDX3XchrX

41196660

+MLLT10chr10

41196660

+
intron-intronENST00000441189ENST00000377059DDX3XchrX

41196660

+MLLT10chr10

41196660

+
intron-intronENST00000441189ENST00000377072DDX3XchrX

41196660

+MLLT10chr10

41196660

+
intron-intronENST00000441189ENST00000377091DDX3XchrX

41196660

+MLLT10chr10

41196660

+
intron-intronENST00000441189ENST00000377100DDX3XchrX

41196660

+MLLT10chr10

41196660

+
intron-intronENST00000441189ENST00000446906DDX3XchrX

41196660

+MLLT10chr10

41196660

+
intron-intronENST00000441189ENST00000495130DDX3XchrX

41196660

+MLLT10chr10

41196660

+
intron-intronENST00000457138ENST00000307729DDX3XchrX

41196660

+MLLT10chr10

41196660

+
intron-intronENST00000457138ENST00000377059DDX3XchrX

41196660

+MLLT10chr10

41196660

+
intron-intronENST00000457138ENST00000377072DDX3XchrX

41196660

+MLLT10chr10

41196660

+
intron-intronENST00000457138ENST00000377091DDX3XchrX

41196660

+MLLT10chr10

41196660

+
intron-intronENST00000457138ENST00000377100DDX3XchrX

41196660

+MLLT10chr10

41196660

+
intron-intronENST00000457138ENST00000446906DDX3XchrX

41196660

+MLLT10chr10

41196660

+
intron-intronENST00000457138ENST00000495130DDX3XchrX

41196660

+MLLT10chr10

41196660

+
intron-intronENST00000478993ENST00000307729DDX3XchrX

41196660

+MLLT10chr10

41196660

+
intron-intronENST00000478993ENST00000377059DDX3XchrX

41196660

+MLLT10chr10

41196660

+
intron-intronENST00000478993ENST00000377072DDX3XchrX

41196660

+MLLT10chr10

41196660

+
intron-intronENST00000478993ENST00000377091DDX3XchrX

41196660

+MLLT10chr10

41196660

+
intron-intronENST00000478993ENST00000377100DDX3XchrX

41196660

+MLLT10chr10

41196660

+
intron-intronENST00000478993ENST00000446906DDX3XchrX

41196660

+MLLT10chr10

41196660

+
intron-intronENST00000478993ENST00000495130DDX3XchrX

41196660

+MLLT10chr10

41196660

+
intron-intronENST00000542215ENST00000307729DDX3XchrX

41196660

+MLLT10chr10

41196660

+
intron-intronENST00000542215ENST00000377059DDX3XchrX

41196660

+MLLT10chr10

41196660

+
intron-intronENST00000542215ENST00000377072DDX3XchrX

41196660

+MLLT10chr10

41196660

+
intron-intronENST00000542215ENST00000377091DDX3XchrX

41196660

+MLLT10chr10

41196660

+
intron-intronENST00000542215ENST00000377100DDX3XchrX

41196660

+MLLT10chr10

41196660

+
intron-intronENST00000542215ENST00000446906DDX3XchrX

41196660

+MLLT10chr10

41196660

+
intron-intronENST00000542215ENST00000495130DDX3XchrX

41196660

+MLLT10chr10

41196660

+

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

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Fusion Genomic Features for DDX3X-MLLT10


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)


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Fusion Protein Features for DDX3X-MLLT10


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/:/:)
- 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
.MLLT10

P55197

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: Probably involved in transcriptional regulation. In vitro or as fusion protein with KMT2A/MLL1 has transactivation activity. Binds to cruciform DNA. In cells, binding to unmodified histone H3 regulates DOT1L functions including histone H3 'Lys-79' dimethylation (H3K79me2) and gene activation (PubMed:26439302). {ECO:0000269|PubMed:17868029, ECO:0000269|PubMed:26439302}.

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


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Fusion Gene Sequence for DDX3X-MLLT10


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.

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Fusion Gene PPI Analysis for DDX3X-MLLT10


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 DDX3X-MLLT10


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 DDX3X-MLLT10


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDDX3XC1535926Neurodevelopmental Disorders2CTD_human
HgeneDDX3XC4085582MENTAL RETARDATION, X-LINKED 1022CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneDDX3XC0014544Epilepsy1CTD_human
HgeneDDX3XC0029408Degenerative polyarthritis1CTD_human
HgeneDDX3XC0079772T-Cell Lymphoma1CTD_human
HgeneDDX3XC0086237Epilepsy, Cryptogenic1CTD_human
HgeneDDX3XC0086743Osteoarthrosis Deformans1CTD_human
HgeneDDX3XC0236018Aura1CTD_human
HgeneDDX3XC0345967Malignant mesothelioma1CTD_human
HgeneDDX3XC0751111Awakening Epilepsy1CTD_human
HgeneDDX3XC0796184Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence1ORPHANET
HgeneDDX3XC1961099Precursor T-Cell Lymphoblastic Leukemia-Lymphoma1ORPHANET
HgeneDDX3XC3714756Intellectual Disability1GENOMICS_ENGLAND
TgeneC0007134Renal Cell Carcinoma1CTD_human
TgeneC0025202melanoma1CTD_human
TgeneC0025286Meningioma1CTD_human
TgeneC0205834Meningiomas, Multiple1CTD_human
TgeneC0259785Malignant Meningioma1CTD_human
TgeneC0279702Conventional (Clear Cell) Renal Cell Carcinoma1CTD_human
TgeneC0281784Benign Meningioma1CTD_human
TgeneC0334605Meningothelial meningioma1CTD_human
TgeneC0334606Fibrous Meningioma1CTD_human
TgeneC0334607Psammomatous Meningioma1CTD_human
TgeneC0334608Angiomatous Meningioma1CTD_human
TgeneC0334609Hemangioblastic Meningioma1CTD_human
TgeneC0334610Hemangiopericytic Meningioma1CTD_human
TgeneC0334611Transitional Meningioma1CTD_human
TgeneC0347515Spinal Meningioma1CTD_human
TgeneC0349604Intracranial Meningioma1CTD_human
TgeneC0431121Clear Cell Meningioma1CTD_human
TgeneC0457190Xanthomatous Meningioma1CTD_human
TgeneC0751303Cerebral Convexity Meningioma1CTD_human
TgeneC0751304Parasagittal Meningioma1CTD_human
TgeneC1266042Chromophobe Renal Cell Carcinoma1CTD_human
TgeneC1266043Sarcomatoid Renal Cell Carcinoma1CTD_human
TgeneC1266044Collecting Duct Carcinoma of the Kidney1CTD_human
TgeneC1306837Papillary Renal Cell Carcinoma1CTD_human
TgeneC1334261Intraorbital Meningioma1CTD_human
TgeneC1334271Intraventricular Meningioma1CTD_human
TgeneC1335107Olfactory Groove Meningioma1CTD_human
TgeneC1384406Secretory meningioma1CTD_human
TgeneC1384408Microcystic meningioma1CTD_human
TgeneC1527197Angioblastic Meningioma1CTD_human
TgeneC1565950Posterior Fossa Meningioma1CTD_human
TgeneC1565951Sphenoid Wing Meningioma1CTD_human
TgeneC1961099Precursor T-Cell Lymphoblastic Leukemia-Lymphoma1ORPHANET
TgeneC3163622Papillary Meningioma1CTD_human