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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:MAST2-C6orf52 (FusionGDB2 ID:51506)

Fusion Gene Summary for MAST2-C6orf52

check button Fusion gene summary
Fusion gene informationFusion gene name: MAST2-C6orf52
Fusion gene ID: 51506
HgeneTgene
Gene symbol

MAST2

C6orf52

Gene ID

23139

347744

Gene namemicrotubule associated serine/threonine kinase 2chromosome 6 open reading frame 52
SynonymsMAST205|MTSSK-
Cytomap

1p34.1

6p24.2

Type of geneprotein-codingprotein-coding
Descriptionmicrotubule-associated serine/threonine-protein kinase 2microtubule associated testis specific serine/threonine protein kinaseputative uncharacterized protein C6orf52
Modification date2020031320200313
UniProtAcc

Q6P0Q8

Q5T4I8

Ensembl transtripts involved in fusion geneENST00000372009, ENST00000361297, 
ENST00000477968, 		ENST00000460742, 
ENST00000259983, ENST00000426700, 
ENST00000467832, ENST00000379586, 
ENST00000503680, 
Fusion gene scores* DoF score25 X 15 X 13=48754 X 6 X 4=96
# samples 285
** MAII scorelog2(28/4875*10)=-4.12190348657937
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(5/96*10)=-0.941106310946431
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MAST2 [Title/Abstract] AND C6orf52 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointMAST2(46348067)-C6orf52(10683465), # samples:2
MAST2(46425149)-C6orf52(10683465), # samples:2
Anticipated loss of major functional domain due to fusion event.MAST2-C6orf52 seems lost the major protein functional domain in Hgene partner, which is a kinase due to the frame-shifted ORF.
MAST2-C6orf52 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted 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

check buttonFusion gene breakpoints across MAST2 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across C6orf52 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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-A2-A4RW-01AMAST2chr1

46348067

+C6orf52chr6

10683465

-
ChimerDB4BRCATCGA-A2-A4RW-01AMAST2chr1

46348067

+C6orf52chr6

10683465

-
ChimerDB4BRCATCGA-A2-A4RW-01AMAST2chr1

46425149

+C6orf52chr6

10687397

-
ChimerDB4BRCATCGA-A2-A4RW-01AMAST2chr1

46425149

+C6orf52chr6

10683465

-
ChimerDB4BRCATCGA-A2-A4RW-01AMAST2chr1

46425149

-C6orf52chr6

10683465

-


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Fusion Gene ORF analysis for MAST2-C6orf52

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
Frame-shiftENST00000372009ENST00000460742MAST2chr1

46348067

+C6orf52chr6

10683465

-
Frame-shiftENST00000372009ENST00000259983MAST2chr1

46348067

+C6orf52chr6

10683465

-
Frame-shiftENST00000372009ENST00000426700MAST2chr1

46348067

+C6orf52chr6

10683465

-
5CDS-5UTRENST00000372009ENST00000467832MAST2chr1

46348067

+C6orf52chr6

10683465

-
5CDS-5UTRENST00000372009ENST00000379586MAST2chr1

46348067

+C6orf52chr6

10683465

-
5CDS-5UTRENST00000372009ENST00000503680MAST2chr1

46348067

+C6orf52chr6

10683465

-
Frame-shiftENST00000361297ENST00000460742MAST2chr1

46348067

+C6orf52chr6

10683465

-
Frame-shiftENST00000361297ENST00000259983MAST2chr1

46348067

+C6orf52chr6

10683465

-
Frame-shiftENST00000361297ENST00000426700MAST2chr1

46348067

+C6orf52chr6

10683465

-
5CDS-5UTRENST00000361297ENST00000467832MAST2chr1

46348067

+C6orf52chr6

10683465

-
5CDS-5UTRENST00000361297ENST00000379586MAST2chr1

46348067

+C6orf52chr6

10683465

-
5CDS-5UTRENST00000361297ENST00000503680MAST2chr1

46348067

+C6orf52chr6

10683465

-
intron-3CDSENST00000477968ENST00000460742MAST2chr1

46348067

+C6orf52chr6

10683465

-
intron-3CDSENST00000477968ENST00000259983MAST2chr1

46348067

+C6orf52chr6

10683465

-
intron-3CDSENST00000477968ENST00000426700MAST2chr1

46348067

+C6orf52chr6

10683465

-
intron-5UTRENST00000477968ENST00000467832MAST2chr1

46348067

+C6orf52chr6

10683465

-
intron-5UTRENST00000477968ENST00000379586MAST2chr1

46348067

+C6orf52chr6

10683465

-
intron-5UTRENST00000477968ENST00000503680MAST2chr1

46348067

+C6orf52chr6

10683465

-
5CDS-5UTRENST00000372009ENST00000460742MAST2chr1

46425149

+C6orf52chr6

10687397

-
5CDS-5UTRENST00000372009ENST00000259983MAST2chr1

46425149

+C6orf52chr6

10687397

-
5CDS-5UTRENST00000372009ENST00000426700MAST2chr1

46425149

+C6orf52chr6

10687397

-
5CDS-intronENST00000372009ENST00000467832MAST2chr1

46425149

+C6orf52chr6

10687397

-
5CDS-intronENST00000372009ENST00000379586MAST2chr1

46425149

+C6orf52chr6

10687397

-
5CDS-5UTRENST00000372009ENST00000503680MAST2chr1

46425149

+C6orf52chr6

10687397

-
5CDS-5UTRENST00000361297ENST00000460742MAST2chr1

46425149

+C6orf52chr6

10687397

-
5CDS-5UTRENST00000361297ENST00000259983MAST2chr1

46425149

+C6orf52chr6

10687397

-
5CDS-5UTRENST00000361297ENST00000426700MAST2chr1

46425149

+C6orf52chr6

10687397

-
5CDS-intronENST00000361297ENST00000467832MAST2chr1

46425149

+C6orf52chr6

10687397

-
5CDS-intronENST00000361297ENST00000379586MAST2chr1

46425149

+C6orf52chr6

10687397

-
5CDS-5UTRENST00000361297ENST00000503680MAST2chr1

46425149

+C6orf52chr6

10687397

-
intron-5UTRENST00000477968ENST00000460742MAST2chr1

46425149

+C6orf52chr6

10687397

-
intron-5UTRENST00000477968ENST00000259983MAST2chr1

46425149

+C6orf52chr6

10687397

-
intron-5UTRENST00000477968ENST00000426700MAST2chr1

46425149

+C6orf52chr6

10687397

-
intron-intronENST00000477968ENST00000467832MAST2chr1

46425149

+C6orf52chr6

10687397

-
intron-intronENST00000477968ENST00000379586MAST2chr1

46425149

+C6orf52chr6

10687397

-
intron-5UTRENST00000477968ENST00000503680MAST2chr1

46425149

+C6orf52chr6

10687397

-
Frame-shiftENST00000372009ENST00000460742MAST2chr1

46425149

+C6orf52chr6

10683465

-
Frame-shiftENST00000372009ENST00000259983MAST2chr1

46425149

+C6orf52chr6

10683465

-
Frame-shiftENST00000372009ENST00000426700MAST2chr1

46425149

+C6orf52chr6

10683465

-
5CDS-5UTRENST00000372009ENST00000467832MAST2chr1

46425149

+C6orf52chr6

10683465

-
5CDS-5UTRENST00000372009ENST00000379586MAST2chr1

46425149

+C6orf52chr6

10683465

-
5CDS-5UTRENST00000372009ENST00000503680MAST2chr1

46425149

+C6orf52chr6

10683465

-
Frame-shiftENST00000361297ENST00000460742MAST2chr1

46425149

+C6orf52chr6

10683465

-
Frame-shiftENST00000361297ENST00000259983MAST2chr1

46425149

+C6orf52chr6

10683465

-
Frame-shiftENST00000361297ENST00000426700MAST2chr1

46425149

+C6orf52chr6

10683465

-
5CDS-5UTRENST00000361297ENST00000467832MAST2chr1

46425149

+C6orf52chr6

10683465

-
5CDS-5UTRENST00000361297ENST00000379586MAST2chr1

46425149

+C6orf52chr6

10683465

-
5CDS-5UTRENST00000361297ENST00000503680MAST2chr1

46425149

+C6orf52chr6

10683465

-
intron-3CDSENST00000477968ENST00000460742MAST2chr1

46425149

+C6orf52chr6

10683465

-
intron-3CDSENST00000477968ENST00000259983MAST2chr1

46425149

+C6orf52chr6

10683465

-
intron-3CDSENST00000477968ENST00000426700MAST2chr1

46425149

+C6orf52chr6

10683465

-
intron-5UTRENST00000477968ENST00000467832MAST2chr1

46425149

+C6orf52chr6

10683465

-
intron-5UTRENST00000477968ENST00000379586MAST2chr1

46425149

+C6orf52chr6

10683465

-
intron-5UTRENST00000477968ENST00000503680MAST2chr1

46425149

+C6orf52chr6

10683465

-

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 MAST2-C6orf52


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.

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 MAST2-C6orf52


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MAST2

Q6P0Q8

C6orf52

Q5T4I8

FUNCTION: Appears to link the dystrophin/utrophin network with microtubule filaments via the syntrophins. Phosphorylation of DMD or UTRN may modulate their affinities for associated proteins. Functions in a multi-protein complex in spermatid maturation. Regulates lipopolysaccharide-induced IL-12 synthesis in macrophages by forming a complex with TRAF6, resulting in the inhibition of TRAF6 NF-kappa-B activation (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


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Fusion Gene Sequence for MAST2-C6orf52


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 MAST2-C6orf52


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 MAST2-C6orf52


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 MAST2-C6orf52


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