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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:MMS19-PLA2G6 (FusionGDB2 ID:54445)

Fusion Gene Summary for MMS19-PLA2G6

check button Fusion gene summary
Fusion gene informationFusion gene name: MMS19-PLA2G6
Fusion gene ID: 54445
HgeneTgene
Gene symbol

MMS19

PLA2G6

Gene ID

64210

8398

Gene nameMMS19 homolog, cytosolic iron-sulfur assembly componentphospholipase A2 group VI
SynonymsCIAO4|MET18|MMS19L|hMMS19CaI-PLA2|GVI|INAD1|IPLA2-VIA|NBIA2|NBIA2A|NBIA2B|PARK14|PLA2|PNPLA9|iPLA2|iPLA2beta
Cytomap

10q24.1

22q13.1

Type of geneprotein-codingprotein-coding
DescriptionMMS19 nucleotide excision repair protein homologMET18 homologMMS19 cytosolic iron-sulfur assembly componentMMS19 nucleotide excision repair homologMMS19-like (MET18 homolog, S. cerevisiae)MMS19-like proteinhomolog of yeast MMS1985/88 kDa calcium-independent phospholipase A285 kDa calcium-independent phospholipase A2GVI PLA2iPLA2-betaintracellular membrane-associated calcium-independent phospholipase A2 betaneurodegeneration with brain iron accumulation 2patatin-like phosph
Modification date2020031320200313
UniProtAcc

Q96T76

.
Ensembl transtripts involved in fusion geneENST00000327238, ENST00000327277, 
ENST00000355839, ENST00000370782, 
ENST00000438925, ENST00000483626, 
ENST00000332509, ENST00000335539, 
ENST00000402064, ENST00000417303, 
ENST00000435484, ENST00000436218, 
ENST00000447598, ENST00000490473, 
Fusion gene scores* DoF score7 X 7 X 5=24510 X 9 X 8=720
# samples 812
** MAII scorelog2(8/245*10)=-1.61470984411521
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(12/720*10)=-2.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MMS19 [Title/Abstract] AND PLA2G6 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointMMS19(99245441)-PLA2G6(38556423), # 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
HgeneMMS19

GO:0097428

protein maturation by iron-sulfur cluster transfer

29225034

HgeneMMS19

GO:1905168

positive regulation of double-strand break repair via homologous recombination

29225034

TgenePLA2G6

GO:0019731

antibacterial humoral response

18714013


check buttonFusion gene breakpoints across MMS19 (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 PLA2G6 (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
ChiTaRS5.0N/AEC550298MMS19chr10

99245441

-PLA2G6chr22

38556423

+


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Fusion Gene ORF analysis for MMS19-PLA2G6

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-intronENST00000327238ENST00000332509MMS19chr10

99245441

-PLA2G6chr22

38556423

+
intron-intronENST00000327238ENST00000335539MMS19chr10

99245441

-PLA2G6chr22

38556423

+
intron-intronENST00000327238ENST00000402064MMS19chr10

99245441

-PLA2G6chr22

38556423

+
intron-intronENST00000327238ENST00000417303MMS19chr10

99245441

-PLA2G6chr22

38556423

+
intron-intronENST00000327238ENST00000435484MMS19chr10

99245441

-PLA2G6chr22

38556423

+
intron-intronENST00000327238ENST00000436218MMS19chr10

99245441

-PLA2G6chr22

38556423

+
intron-intronENST00000327238ENST00000447598MMS19chr10

99245441

-PLA2G6chr22

38556423

+
intron-intronENST00000327238ENST00000490473MMS19chr10

99245441

-PLA2G6chr22

38556423

+
intron-intronENST00000327277ENST00000332509MMS19chr10

99245441

-PLA2G6chr22

38556423

+
intron-intronENST00000327277ENST00000335539MMS19chr10

99245441

-PLA2G6chr22

38556423

+
intron-intronENST00000327277ENST00000402064MMS19chr10

99245441

-PLA2G6chr22

38556423

+
intron-intronENST00000327277ENST00000417303MMS19chr10

99245441

-PLA2G6chr22

38556423

+
intron-intronENST00000327277ENST00000435484MMS19chr10

99245441

-PLA2G6chr22

38556423

+
intron-intronENST00000327277ENST00000436218MMS19chr10

99245441

-PLA2G6chr22

38556423

+
intron-intronENST00000327277ENST00000447598MMS19chr10

99245441

-PLA2G6chr22

38556423

+
intron-intronENST00000327277ENST00000490473MMS19chr10

99245441

-PLA2G6chr22

38556423

+
intron-intronENST00000355839ENST00000332509MMS19chr10

99245441

-PLA2G6chr22

38556423

+
intron-intronENST00000355839ENST00000335539MMS19chr10

99245441

-PLA2G6chr22

38556423

+
intron-intronENST00000355839ENST00000402064MMS19chr10

99245441

-PLA2G6chr22

38556423

+
intron-intronENST00000355839ENST00000417303MMS19chr10

99245441

-PLA2G6chr22

38556423

+
intron-intronENST00000355839ENST00000435484MMS19chr10

99245441

-PLA2G6chr22

38556423

+
intron-intronENST00000355839ENST00000436218MMS19chr10

99245441

-PLA2G6chr22

38556423

+
intron-intronENST00000355839ENST00000447598MMS19chr10

99245441

-PLA2G6chr22

38556423

+
intron-intronENST00000355839ENST00000490473MMS19chr10

99245441

-PLA2G6chr22

38556423

+
intron-intronENST00000370782ENST00000332509MMS19chr10

99245441

-PLA2G6chr22

38556423

+
intron-intronENST00000370782ENST00000335539MMS19chr10

99245441

-PLA2G6chr22

38556423

+
intron-intronENST00000370782ENST00000402064MMS19chr10

99245441

-PLA2G6chr22

38556423

+
intron-intronENST00000370782ENST00000417303MMS19chr10

99245441

-PLA2G6chr22

38556423

+
intron-intronENST00000370782ENST00000435484MMS19chr10

99245441

-PLA2G6chr22

38556423

+
intron-intronENST00000370782ENST00000436218MMS19chr10

99245441

-PLA2G6chr22

38556423

+
intron-intronENST00000370782ENST00000447598MMS19chr10

99245441

-PLA2G6chr22

38556423

+
intron-intronENST00000370782ENST00000490473MMS19chr10

99245441

-PLA2G6chr22

38556423

+
intron-intronENST00000438925ENST00000332509MMS19chr10

99245441

-PLA2G6chr22

38556423

+
intron-intronENST00000438925ENST00000335539MMS19chr10

99245441

-PLA2G6chr22

38556423

+
intron-intronENST00000438925ENST00000402064MMS19chr10

99245441

-PLA2G6chr22

38556423

+
intron-intronENST00000438925ENST00000417303MMS19chr10

99245441

-PLA2G6chr22

38556423

+
intron-intronENST00000438925ENST00000435484MMS19chr10

99245441

-PLA2G6chr22

38556423

+
intron-intronENST00000438925ENST00000436218MMS19chr10

99245441

-PLA2G6chr22

38556423

+
intron-intronENST00000438925ENST00000447598MMS19chr10

99245441

-PLA2G6chr22

38556423

+
intron-intronENST00000438925ENST00000490473MMS19chr10

99245441

-PLA2G6chr22

38556423

+
intron-intronENST00000483626ENST00000332509MMS19chr10

99245441

-PLA2G6chr22

38556423

+
intron-intronENST00000483626ENST00000335539MMS19chr10

99245441

-PLA2G6chr22

38556423

+
intron-intronENST00000483626ENST00000402064MMS19chr10

99245441

-PLA2G6chr22

38556423

+
intron-intronENST00000483626ENST00000417303MMS19chr10

99245441

-PLA2G6chr22

38556423

+
intron-intronENST00000483626ENST00000435484MMS19chr10

99245441

-PLA2G6chr22

38556423

+
intron-intronENST00000483626ENST00000436218MMS19chr10

99245441

-PLA2G6chr22

38556423

+
intron-intronENST00000483626ENST00000447598MMS19chr10

99245441

-PLA2G6chr22

38556423

+
intron-intronENST00000483626ENST00000490473MMS19chr10

99245441

-PLA2G6chr22

38556423

+

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 MMS19-PLA2G6


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 MMS19-PLA2G6


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/:99245441/:38556423)
- 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
MMS19

Q96T76

.
FUNCTION: Key component of the cytosolic iron-sulfur protein assembly (CIA) complex, a multiprotein complex that mediates the incorporation of iron-sulfur cluster into apoproteins specifically involved in DNA metabolism and genomic integrity (PubMed:29848660). In the CIA complex, MMS19 acts as an adapter between early-acting CIA components and a subset of cellular target iron-sulfur proteins such as ERCC2/XPD, FANCJ and RTEL1, thereby playing a key role in nucleotide excision repair (NER), homologous recombination-mediated double-strand break DNA repair, DNA replication and RNA polymerase II (POL II) transcription (PubMed:22678362, PubMed:22678361, PubMed:29225034, PubMed:23585563). As part of the mitotic spindle-associated MMXD complex, plays a role in chromosome segregation, probably by facilitating iron-sulfur (Fe-S) cluster assembly into ERCC2/XPD (PubMed:20797633). Together with CIAO2, facilitates the transfer of Fe-S clusters to the motor protein KIF4A, which ensures proper localization of KIF4A to mitotic machinery components to promote the progression of mitosis (PubMed:29848660). Indirectly acts as a transcriptional coactivator of estrogen receptor (ER), via its role in iron-sulfur insertion into some component of the TFIIH-machinery (PubMed:11279242). {ECO:0000269|PubMed:11279242, ECO:0000269|PubMed:20797633, ECO:0000269|PubMed:22678361, ECO:0000269|PubMed:22678362, ECO:0000269|PubMed:23585563, ECO:0000269|PubMed:29225034, ECO:0000269|PubMed:29848660}.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


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Fusion Gene Sequence for MMS19-PLA2G6


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 MMS19-PLA2G6


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 MMS19-PLA2G6


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 MMS19-PLA2G6


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