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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:RPL22-MECOM (FusionGDB2 ID:76144)

Fusion Gene Summary for RPL22-MECOM

check button Fusion gene summary
Fusion gene informationFusion gene name: RPL22-MECOM
Fusion gene ID: 76144
HgeneTgene
Gene symbol

RPL22

MECOM

Gene ID

6146

2122

Gene nameribosomal protein L22MDS1 and EVI1 complex locus
SynonymsEAP|HBP15|HBP15/L22|L22AML1-EVI-1|EVI1|KMT8E|MDS1|MDS1-EVI1|PRDM3|RUSAT2
Cytomap

1p36.31

3q26.2

Type of geneprotein-codingprotein-coding
Description60S ribosomal protein L22EBER-associated proteinEpstein-Barr virus small RNA-associated proteinEpstein-Barr-encoded RNA-associated proteinheparin-binding protein 15heparin-binding protein HBp15large ribosomal subunit protein eL22histone-lysine N-methyltransferase MECOMAML1-EVI-1 fusion proteinMDS1 and EVI1 complex locus protein EVI1MDS1 and EVI1 complex locus protein MDS1PR domain 3ecotropic virus integration site 1 protein homologmyelodysplasia syndrome-associated protein
Modification date2020031320200313
UniProtAcc.

Q03112

Ensembl transtripts involved in fusion geneENST00000234875, ENST00000484532, 
ENST00000497965, 
ENST00000485957, 
ENST00000264674, ENST00000392736, 
ENST00000433243, ENST00000460814, 
ENST00000464456, ENST00000468789, 
ENST00000472280, ENST00000494292, 
Fusion gene scores* DoF score23 X 13 X 10=299018 X 18 X 11=3564
# samples 2523
** MAII scorelog2(25/2990*10)=-3.58014548442338
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(23/3564*10)=-3.95379157057755
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: RPL22 [Title/Abstract] AND MECOM [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointRPL22(6252989)-MECOM(169099312), # samples:27
MECOM(169201808)-RPL22(6246675), # 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
TgeneMECOM

GO:0045892

negative regulation of transcription, DNA-templated

10856240|11568182

TgeneMECOM

GO:0045893

positive regulation of transcription, DNA-templated

11568182|19767769

TgeneMECOM

GO:0051726

regulation of cell cycle

11568182


check buttonFusion gene breakpoints across RPL22 (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 MECOM (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
ChimerDB4ESCATCGA-2H-A9GJRPL22chr1

6252989

-MECOMchr3

169099312

-
ChimerDB4ESCATCGA-2H-A9GKRPL22chr1

6252989

-MECOMchr3

169099312

-
ChimerDB4ESCATCGA-2H-A9GLRPL22chr1

6252989

-MECOMchr3

169099312

-
ChimerDB4ESCATCGA-2H-A9GRRPL22chr1

6252989

-MECOMchr3

169099312

-
ChimerDB4ESCATCGA-L5-A43MRPL22chr1

6252989

-MECOMchr3

169099312

-
ChimerDB4ESCATCGA-L5-A4OJRPL22chr1

6252989

-MECOMchr3

169099312

-
ChimerDB4ESCATCGA-L5-A4ONRPL22chr1

6252989

-MECOMchr3

169099312

-
ChimerDB4ESCATCGA-L5-A8NWRPL22chr1

6252989

-MECOMchr3

169099312

-
ChimerDB4HNSCTCGA-BA-4078RPL22chr1

6252989

-MECOMchr3

169099312

-
ChimerDB4KIRCTCGA-AK-3453RPL22chr1

6252989

-MECOMchr3

169099312

-
ChimerDB4OVTCGA-13-0884RPL22chr1

6252989

-MECOMchr3

169099312

-
ChimerDB4OVTCGA-13-1511RPL22chr1

6252989

-MECOMchr3

169099312

-
ChimerDB4OVTCGA-20-1684RPL22chr1

6252989

-MECOMchr3

169099312

-
ChimerDB4OVTCGA-24-2254RPL22chr1

6252989

-MECOMchr3

169099312

-
ChimerDB4OVTCGA-61-2113RPL22chr1

6252989

-MECOMchr3

169099312

-
ChimerDB4OVTCGA-OY-A56QRPL22chr1

6252989

-MECOMchr3

169099312

-
ChimerDB4OVTCGA-VG-A8LORPL22chr1

6252989

-MECOMchr3

169099312

-
ChimerDB4STADTCGA-BR-6458RPL22chr1

6252989

-MECOMchr3

169099312

-
ChimerDB4STADTCGA-CD-5801RPL22chr1

6252989

-MECOMchr3

169099312

-
ChimerDB4STADTCGA-CD-8530RPL22chr1

6252989

-MECOMchr3

169099312

-
ChimerDB4STADTCGA-D7-6519RPL22chr1

6252989

-MECOMchr3

169099312

-
ChimerDB4STADTCGA-VQ-A91NRPL22chr1

6252989

-MECOMchr3

169099312

-
ChimerDB4UCECTCGA-A5-A2K4RPL22chr1

6252989

-MECOMchr3

169099312

-


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Fusion Gene ORF analysis for RPL22-MECOM

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
5CDS-5UTRENST00000234875ENST00000485957RPL22chr1

6252989

-MECOMchr3

169099312

-
5CDS-5UTRENST00000484532ENST00000485957RPL22chr1

6252989

-MECOMchr3

169099312

-
5CDS-5UTRENST00000497965ENST00000485957RPL22chr1

6252989

-MECOMchr3

169099312

-
5CDS-intronENST00000234875ENST00000264674RPL22chr1

6252989

-MECOMchr3

169099312

-
5CDS-intronENST00000234875ENST00000392736RPL22chr1

6252989

-MECOMchr3

169099312

-
5CDS-intronENST00000234875ENST00000433243RPL22chr1

6252989

-MECOMchr3

169099312

-
5CDS-intronENST00000234875ENST00000460814RPL22chr1

6252989

-MECOMchr3

169099312

-
5CDS-intronENST00000234875ENST00000464456RPL22chr1

6252989

-MECOMchr3

169099312

-
5CDS-intronENST00000234875ENST00000468789RPL22chr1

6252989

-MECOMchr3

169099312

-
5CDS-intronENST00000234875ENST00000472280RPL22chr1

6252989

-MECOMchr3

169099312

-
5CDS-intronENST00000234875ENST00000494292RPL22chr1

6252989

-MECOMchr3

169099312

-
5CDS-intronENST00000484532ENST00000264674RPL22chr1

6252989

-MECOMchr3

169099312

-
5CDS-intronENST00000484532ENST00000392736RPL22chr1

6252989

-MECOMchr3

169099312

-
5CDS-intronENST00000484532ENST00000433243RPL22chr1

6252989

-MECOMchr3

169099312

-
5CDS-intronENST00000484532ENST00000460814RPL22chr1

6252989

-MECOMchr3

169099312

-
5CDS-intronENST00000484532ENST00000464456RPL22chr1

6252989

-MECOMchr3

169099312

-
5CDS-intronENST00000484532ENST00000468789RPL22chr1

6252989

-MECOMchr3

169099312

-
5CDS-intronENST00000484532ENST00000472280RPL22chr1

6252989

-MECOMchr3

169099312

-
5CDS-intronENST00000484532ENST00000494292RPL22chr1

6252989

-MECOMchr3

169099312

-
5CDS-intronENST00000497965ENST00000264674RPL22chr1

6252989

-MECOMchr3

169099312

-
5CDS-intronENST00000497965ENST00000392736RPL22chr1

6252989

-MECOMchr3

169099312

-
5CDS-intronENST00000497965ENST00000433243RPL22chr1

6252989

-MECOMchr3

169099312

-
5CDS-intronENST00000497965ENST00000460814RPL22chr1

6252989

-MECOMchr3

169099312

-
5CDS-intronENST00000497965ENST00000464456RPL22chr1

6252989

-MECOMchr3

169099312

-
5CDS-intronENST00000497965ENST00000468789RPL22chr1

6252989

-MECOMchr3

169099312

-
5CDS-intronENST00000497965ENST00000472280RPL22chr1

6252989

-MECOMchr3

169099312

-
5CDS-intronENST00000497965ENST00000494292RPL22chr1

6252989

-MECOMchr3

169099312

-

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 RPL22-MECOM


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 RPL22-MECOM


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/:6252989/:169099312)
- 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
.MECOM

Q03112

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: [Isoform 1]: Functions as a transcriptional regulator binding to DNA sequences in the promoter region of target genes and regulating positively or negatively their expression. Oncogene which plays a role in development, cell proliferation and differentiation. May also play a role in apoptosis through regulation of the JNK and TGF-beta signaling. Involved in hematopoiesis. {ECO:0000269|PubMed:10856240, ECO:0000269|PubMed:11568182, ECO:0000269|PubMed:15897867, ECO:0000269|PubMed:16462766, ECO:0000269|PubMed:19767769, ECO:0000269|PubMed:9665135}.; FUNCTION: [Isoform 7]: Displays histone methyltransferase activity and monomethylates 'Lys-9' of histone H3 (H3K9me1) in vitro. Probably catalyzes the monomethylation of free histone H3 in the cytoplasm which is then transported to the nucleus and incorporated into nucleosomes where SUV39H methyltransferases use it as a substrate to catalyze histone H3 'Lys-9' trimethylation. Likely to be one of the primary histone methyltransferases along with PRDM16 that direct cytoplasmic H3K9me1 methylation. {ECO:0000250|UniProtKB:P14404}.

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 RPL22-MECOM


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 RPL22-MECOM


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 RPL22-MECOM


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 RPL22-MECOM


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