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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:MCM10-OPTN (FusionGDB2 ID:52212)

Fusion Gene Summary for MCM10-OPTN

check button Fusion gene summary
Fusion gene informationFusion gene name: MCM10-OPTN
Fusion gene ID: 52212
HgeneTgene
Gene symbol

MCM10

OPTN

Gene ID

55388

10133

Gene nameminichromosome maintenance 10 replication initiation factoroptineurin
SynonymsCNA43|DNA43|PRO2249ALS12|FIP2|GLC1E|HIP7|HYPL|NRP|TFIIIA-INTP
Cytomap

10p13

10p13

Type of geneprotein-codingprotein-coding
Descriptionprotein MCM10 homologMCM10 minichromosome maintenance deficient 10homolog of yeast MCM10hsMCM10minichromosome maintenance complex component 10optineurinE3-14.7K-interacting proteinFIP-2HIP-7Huntingtin interacting protein Lhuntingtin yeast partner Lhuntingtin-interacting protein 7huntingtin-interacting protein Lnemo-related proteinoptic neuropathy-inducing proteintranscription factor I
Modification date2020031320200327
UniProtAcc

Q7L590

.
Ensembl transtripts involved in fusion geneENST00000378694, ENST00000378714, 
ENST00000484800, 		ENST00000378747, 
ENST00000378748, ENST00000378752, 
ENST00000378757, ENST00000482140, 
ENST00000263036, ENST00000378764, 
Fusion gene scores* DoF score2 X 2 X 2=88 X 7 X 6=336
# samples 28
** MAII scorelog2(2/8*10)=1.32192809488736log2(8/336*10)=-2.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MCM10 [Title/Abstract] AND OPTN [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointMCM10(13225100)-OPTN(13154453), # samples:2
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
TgeneOPTN

GO:0010508

positive regulation of autophagy

21617041

TgeneOPTN

GO:0090161

Golgi ribbon formation

15837803


check buttonFusion gene breakpoints across MCM10 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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

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-A8-A07L-01AMCM10chr10

13225100

+OPTNchr10

13154453

+


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Fusion Gene ORF analysis for MCM10-OPTN

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-3UTRENST00000378694ENST00000378747MCM10chr10

13225100

+OPTNchr10

13154453

+
5CDS-3UTRENST00000378694ENST00000378748MCM10chr10

13225100

+OPTNchr10

13154453

+
5CDS-3UTRENST00000378694ENST00000378752MCM10chr10

13225100

+OPTNchr10

13154453

+
5CDS-3UTRENST00000378694ENST00000378757MCM10chr10

13225100

+OPTNchr10

13154453

+
5CDS-3UTRENST00000378694ENST00000482140MCM10chr10

13225100

+OPTNchr10

13154453

+
5CDS-3UTRENST00000378714ENST00000378747MCM10chr10

13225100

+OPTNchr10

13154453

+
5CDS-3UTRENST00000378714ENST00000378748MCM10chr10

13225100

+OPTNchr10

13154453

+
5CDS-3UTRENST00000378714ENST00000378752MCM10chr10

13225100

+OPTNchr10

13154453

+
5CDS-3UTRENST00000378714ENST00000378757MCM10chr10

13225100

+OPTNchr10

13154453

+
5CDS-3UTRENST00000378714ENST00000482140MCM10chr10

13225100

+OPTNchr10

13154453

+
5CDS-3UTRENST00000484800ENST00000378747MCM10chr10

13225100

+OPTNchr10

13154453

+
5CDS-3UTRENST00000484800ENST00000378748MCM10chr10

13225100

+OPTNchr10

13154453

+
5CDS-3UTRENST00000484800ENST00000378752MCM10chr10

13225100

+OPTNchr10

13154453

+
5CDS-3UTRENST00000484800ENST00000378757MCM10chr10

13225100

+OPTNchr10

13154453

+
5CDS-3UTRENST00000484800ENST00000482140MCM10chr10

13225100

+OPTNchr10

13154453

+
In-frameENST00000378694ENST00000263036MCM10chr10

13225100

+OPTNchr10

13154453

+
In-frameENST00000378694ENST00000378764MCM10chr10

13225100

+OPTNchr10

13154453

+
In-frameENST00000378714ENST00000263036MCM10chr10

13225100

+OPTNchr10

13154453

+
In-frameENST00000378714ENST00000378764MCM10chr10

13225100

+OPTNchr10

13154453

+
In-frameENST00000484800ENST00000263036MCM10chr10

13225100

+OPTNchr10

13154453

+
In-frameENST00000484800ENST00000378764MCM10chr10

13225100

+OPTNchr10

13154453

+

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 MCM10-OPTN


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.
genomic feature

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.
genomic feature of top 1%

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Fusion Protein Features for MCM10-OPTN


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/chr10:13225100/chr10:13154453)
- 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
MCM10

Q7L590

.
FUNCTION: Acts as a replication initiation factor that brings together the MCM2-7 helicase and the DNA polymerase alpha/primase complex in order to initiate DNA replication. Additionally, plays a role in preventing DNA damage during replication. Key effector of the RBBP6 and ZBTB38-mediated regulation of DNA-replication and common fragile sites stability; acts as a direct target of transcriptional repression by ZBTB38 (PubMed:24726359). {ECO:0000269|PubMed:11095689, ECO:0000269|PubMed:15136575, ECO:0000269|PubMed:17699597, ECO:0000269|PubMed:19608746, ECO:0000269|PubMed:24726359}.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
HgeneMCM10chr10:13225100chr10:13154453ENST00000378714+820104_142366875.0Coiled coilOntology_term=ECO:0000255
HgeneMCM10chr10:13225100chr10:13154453ENST00000484800+820104_142367876.0Coiled coilOntology_term=ECO:0000255
HgeneMCM10chr10:13225100chr10:13154453ENST00000378714+8201_156366875.0RegionN-terminal domain
HgeneMCM10chr10:13225100chr10:13154453ENST00000484800+8201_156367876.0RegionN-terminal domain
TgeneOPTNchr10:13225100chr10:13154453ENST00000263036315239_508123578.0Coiled coilOntology_term=ECO:0000255
TgeneOPTNchr10:13225100chr10:13154453ENST00000378747315239_508123578.0Coiled coilOntology_term=ECO:0000255
TgeneOPTNchr10:13225100chr10:13154453ENST00000378748416239_508123578.0Coiled coilOntology_term=ECO:0000255
TgeneOPTNchr10:13225100chr10:13154453ENST00000378752416239_508123572.0Coiled coilOntology_term=ECO:0000255
TgeneOPTNchr10:13225100chr10:13154453ENST00000378757214239_508123578.0Coiled coilOntology_term=ECO:0000255
TgeneOPTNchr10:13225100chr10:13154453ENST00000378764315239_508123572.0Coiled coilOntology_term=ECO:0000255
TgeneOPTNchr10:13225100chr10:13154453ENST00000263036315176_181123578.0MotifNote=LIR
TgeneOPTNchr10:13225100chr10:13154453ENST00000263036315474_479123578.0MotifNote=UBAN
TgeneOPTNchr10:13225100chr10:13154453ENST00000378747315176_181123578.0MotifNote=LIR
TgeneOPTNchr10:13225100chr10:13154453ENST00000378747315474_479123578.0MotifNote=UBAN
TgeneOPTNchr10:13225100chr10:13154453ENST00000378748416176_181123578.0MotifNote=LIR
TgeneOPTNchr10:13225100chr10:13154453ENST00000378748416474_479123578.0MotifNote=UBAN
TgeneOPTNchr10:13225100chr10:13154453ENST00000378752416176_181123572.0MotifNote=LIR
TgeneOPTNchr10:13225100chr10:13154453ENST00000378752416474_479123572.0MotifNote=UBAN
TgeneOPTNchr10:13225100chr10:13154453ENST00000378757214176_181123578.0MotifNote=LIR
TgeneOPTNchr10:13225100chr10:13154453ENST00000378757214474_479123578.0MotifNote=UBAN
TgeneOPTNchr10:13225100chr10:13154453ENST00000378764315176_181123572.0MotifNote=LIR
TgeneOPTNchr10:13225100chr10:13154453ENST00000378764315474_479123572.0MotifNote=UBAN
TgeneOPTNchr10:13225100chr10:13154453ENST00000263036315547_577123578.0Zinc fingerCCHC NOA-type
TgeneOPTNchr10:13225100chr10:13154453ENST00000378747315547_577123578.0Zinc fingerCCHC NOA-type
TgeneOPTNchr10:13225100chr10:13154453ENST00000378748416547_577123578.0Zinc fingerCCHC NOA-type
TgeneOPTNchr10:13225100chr10:13154453ENST00000378752416547_577123572.0Zinc fingerCCHC NOA-type
TgeneOPTNchr10:13225100chr10:13154453ENST00000378757214547_577123578.0Zinc fingerCCHC NOA-type
TgeneOPTNchr10:13225100chr10:13154453ENST00000378764315547_577123572.0Zinc fingerCCHC NOA-type

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneMCM10chr10:13225100chr10:13154453ENST00000378714+820238_389366875.0RegionOB-fold domain
HgeneMCM10chr10:13225100chr10:13154453ENST00000378714+820390_415366875.0RegionNote=Zinc finger-like 1
HgeneMCM10chr10:13225100chr10:13154453ENST00000378714+820783_802366875.0RegionZinc finger-like 2
HgeneMCM10chr10:13225100chr10:13154453ENST00000378714+820816_836366875.0RegionZinc finger-like 3
HgeneMCM10chr10:13225100chr10:13154453ENST00000484800+820238_389367876.0RegionOB-fold domain
HgeneMCM10chr10:13225100chr10:13154453ENST00000484800+820390_415367876.0RegionNote=Zinc finger-like 1
HgeneMCM10chr10:13225100chr10:13154453ENST00000484800+820783_802367876.0RegionZinc finger-like 2
HgeneMCM10chr10:13225100chr10:13154453ENST00000484800+820816_836367876.0RegionZinc finger-like 3
TgeneOPTNchr10:13225100chr10:13154453ENST0000026303631538_170123578.0Coiled coilOntology_term=ECO:0000255
TgeneOPTNchr10:13225100chr10:13154453ENST0000037874731538_170123578.0Coiled coilOntology_term=ECO:0000255
TgeneOPTNchr10:13225100chr10:13154453ENST0000037874841638_170123578.0Coiled coilOntology_term=ECO:0000255
TgeneOPTNchr10:13225100chr10:13154453ENST0000037875241638_170123572.0Coiled coilOntology_term=ECO:0000255
TgeneOPTNchr10:13225100chr10:13154453ENST0000037875721438_170123578.0Coiled coilOntology_term=ECO:0000255
TgeneOPTNchr10:13225100chr10:13154453ENST0000037876431538_170123572.0Coiled coilOntology_term=ECO:0000255


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Fusion Gene Sequence for MCM10-OPTN


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 MCM10-OPTN


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
TgeneOPTNchr10:13225100chr10:13154453ENST00000263036315411_577123.0578.0HD
TgeneOPTNchr10:13225100chr10:13154453ENST00000378747315411_577123.0578.0HD
TgeneOPTNchr10:13225100chr10:13154453ENST00000378748416411_577123.0578.0HD
TgeneOPTNchr10:13225100chr10:13154453ENST00000378752416411_577123.0572.0HD
TgeneOPTNchr10:13225100chr10:13154453ENST00000378757214411_577123.0578.0HD
TgeneOPTNchr10:13225100chr10:13154453ENST00000378764315411_577123.0572.0HD
TgeneOPTNchr10:13225100chr10:13154453ENST00000263036315412_520123.0578.0MYO6
TgeneOPTNchr10:13225100chr10:13154453ENST00000378747315412_520123.0578.0MYO6
TgeneOPTNchr10:13225100chr10:13154453ENST00000378748416412_520123.0578.0MYO6
TgeneOPTNchr10:13225100chr10:13154453ENST00000378752416412_520123.0572.0MYO6
TgeneOPTNchr10:13225100chr10:13154453ENST00000378757214412_520123.0578.0MYO6
TgeneOPTNchr10:13225100chr10:13154453ENST00000378764315412_520123.0572.0MYO6


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with
TgeneOPTNchr10:13225100chr10:13154453ENST0000026303631558_209123.0578.0Rab8
TgeneOPTNchr10:13225100chr10:13154453ENST0000037874731558_209123.0578.0Rab8
TgeneOPTNchr10:13225100chr10:13154453ENST0000037874841658_209123.0578.0Rab8
TgeneOPTNchr10:13225100chr10:13154453ENST0000037875241658_209123.0572.0Rab8
TgeneOPTNchr10:13225100chr10:13154453ENST0000037875721458_209123.0578.0Rab8
TgeneOPTNchr10:13225100chr10:13154453ENST0000037876431558_209123.0572.0Rab8


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 MCM10-OPTN


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 MCM10-OPTN


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