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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:MECOM-STIM1 (FusionGDB2 ID:52520)

Fusion Gene Summary for MECOM-STIM1

check button Fusion gene summary
Fusion gene informationFusion gene name: MECOM-STIM1
Fusion gene ID: 52520
HgeneTgene
Gene symbol

MECOM

STIM1

Gene ID

2122

6786

Gene nameMDS1 and EVI1 complex locusstromal interaction molecule 1
SynonymsAML1-EVI-1|EVI1|KMT8E|MDS1|MDS1-EVI1|PRDM3|RUSAT2D11S4896E|GOK|IMD10|STRMK|TAM|TAM1
Cytomap

3q26.2

11p15.4

Type of geneprotein-codingprotein-coding
Descriptionhistone-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 stromal interaction molecule 1
Modification date2020031320200329
UniProtAcc

Q03112

.
Ensembl transtripts involved in fusion geneENST00000264674, ENST00000392736, 
ENST00000433243, ENST00000460814, 
ENST00000464456, ENST00000468789, 
ENST00000472280, ENST00000485957, 
ENST00000494292, 		ENST00000300737, 
ENST00000527484, ENST00000527651, 
ENST00000533977, 
Fusion gene scores* DoF score33 X 21 X 11=762311 X 11 X 4=484
# samples 4312
** MAII scorelog2(43/7623*10)=-4.14795031118505
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(12/484*10)=-2.01197264166608
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MECOM [Title/Abstract] AND STIM1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointMECOM(169217160)-STIM1(3978054), # 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
HgeneMECOM

GO:0045892

negative regulation of transcription, DNA-templated

10856240|11568182

HgeneMECOM

GO:0045893

positive regulation of transcription, DNA-templated

11568182|19767769

HgeneMECOM

GO:0051726

regulation of cell cycle

11568182

TgeneSTIM1

GO:0002115

store-operated calcium entry

28219928

TgeneSTIM1

GO:0005513

detection of calcium ion

16005298

TgeneSTIM1

GO:0032237

activation of store-operated calcium channel activity

16005298|26322679|28219928

TgeneSTIM1

GO:0045762

positive regulation of adenylate cyclase activity

19171672

TgeneSTIM1

GO:0051924

regulation of calcium ion transport

16005298


check buttonFusion gene breakpoints across MECOM (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 STIM1 (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/AAI820887MECOMchr3

169217160

+STIM1chr11

3978054

+


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Fusion Gene ORF analysis for MECOM-STIM1

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-intronENST00000264674ENST00000300737MECOMchr3

169217160

+STIM1chr11

3978054

+
intron-intronENST00000264674ENST00000527484MECOMchr3

169217160

+STIM1chr11

3978054

+
intron-intronENST00000264674ENST00000527651MECOMchr3

169217160

+STIM1chr11

3978054

+
intron-intronENST00000264674ENST00000533977MECOMchr3

169217160

+STIM1chr11

3978054

+
intron-intronENST00000392736ENST00000300737MECOMchr3

169217160

+STIM1chr11

3978054

+
intron-intronENST00000392736ENST00000527484MECOMchr3

169217160

+STIM1chr11

3978054

+
intron-intronENST00000392736ENST00000527651MECOMchr3

169217160

+STIM1chr11

3978054

+
intron-intronENST00000392736ENST00000533977MECOMchr3

169217160

+STIM1chr11

3978054

+
intron-intronENST00000433243ENST00000300737MECOMchr3

169217160

+STIM1chr11

3978054

+
intron-intronENST00000433243ENST00000527484MECOMchr3

169217160

+STIM1chr11

3978054

+
intron-intronENST00000433243ENST00000527651MECOMchr3

169217160

+STIM1chr11

3978054

+
intron-intronENST00000433243ENST00000533977MECOMchr3

169217160

+STIM1chr11

3978054

+
intron-intronENST00000460814ENST00000300737MECOMchr3

169217160

+STIM1chr11

3978054

+
intron-intronENST00000460814ENST00000527484MECOMchr3

169217160

+STIM1chr11

3978054

+
intron-intronENST00000460814ENST00000527651MECOMchr3

169217160

+STIM1chr11

3978054

+
intron-intronENST00000460814ENST00000533977MECOMchr3

169217160

+STIM1chr11

3978054

+
intron-intronENST00000464456ENST00000300737MECOMchr3

169217160

+STIM1chr11

3978054

+
intron-intronENST00000464456ENST00000527484MECOMchr3

169217160

+STIM1chr11

3978054

+
intron-intronENST00000464456ENST00000527651MECOMchr3

169217160

+STIM1chr11

3978054

+
intron-intronENST00000464456ENST00000533977MECOMchr3

169217160

+STIM1chr11

3978054

+
intron-intronENST00000468789ENST00000300737MECOMchr3

169217160

+STIM1chr11

3978054

+
intron-intronENST00000468789ENST00000527484MECOMchr3

169217160

+STIM1chr11

3978054

+
intron-intronENST00000468789ENST00000527651MECOMchr3

169217160

+STIM1chr11

3978054

+
intron-intronENST00000468789ENST00000533977MECOMchr3

169217160

+STIM1chr11

3978054

+
intron-intronENST00000472280ENST00000300737MECOMchr3

169217160

+STIM1chr11

3978054

+
intron-intronENST00000472280ENST00000527484MECOMchr3

169217160

+STIM1chr11

3978054

+
intron-intronENST00000472280ENST00000527651MECOMchr3

169217160

+STIM1chr11

3978054

+
intron-intronENST00000472280ENST00000533977MECOMchr3

169217160

+STIM1chr11

3978054

+
intron-intronENST00000485957ENST00000300737MECOMchr3

169217160

+STIM1chr11

3978054

+
intron-intronENST00000485957ENST00000527484MECOMchr3

169217160

+STIM1chr11

3978054

+
intron-intronENST00000485957ENST00000527651MECOMchr3

169217160

+STIM1chr11

3978054

+
intron-intronENST00000485957ENST00000533977MECOMchr3

169217160

+STIM1chr11

3978054

+
intron-intronENST00000494292ENST00000300737MECOMchr3

169217160

+STIM1chr11

3978054

+
intron-intronENST00000494292ENST00000527484MECOMchr3

169217160

+STIM1chr11

3978054

+
intron-intronENST00000494292ENST00000527651MECOMchr3

169217160

+STIM1chr11

3978054

+
intron-intronENST00000494292ENST00000533977MECOMchr3

169217160

+STIM1chr11

3978054

+

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 MECOM-STIM1


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 MECOM-STIM1


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/:169217160/:3978054)
- 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: [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}.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 MECOM-STIM1


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 MECOM-STIM1


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 MECOM-STIM1


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 MECOM-STIM1


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