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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 21294

FusionGeneSummary for MCM10_OPTN

check button Fusion gene summary
Fusion gene informationFusion gene name: MCM10_OPTN
Fusion gene ID: 21294
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 date2018052320180523
UniProtAcc

Q7L590

Q96CV9

Ensembl transtripts involved in fusion geneENST00000378714, ENST00000484800, 
ENST00000378694, 		ENST00000263036, 
ENST00000378764, ENST00000482140, 
ENST00000378757, ENST00000378752, 
ENST00000378748, ENST00000378747, 
Fusion gene scores* DoF score1 X 1 X 1=13 X 2 X 3=18
# samples 13
** MAII scorelog2(1/1*10)=3.32192809488736log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

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

Functional or gene categories assigned by FusionGDB annotation
* 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 button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGALDBRCATCGA-A8-A07L-01AMCM10chr10

13225100

+OPTNchr10

13154453

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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
In-frameENST00000378714ENST00000263036MCM10chr10

13225100

+OPTNchr10

13154453

+
In-frameENST00000378714ENST00000378764MCM10chr10

13225100

+OPTNchr10

13154453

+
5CDS-3UTRENST00000378714ENST00000482140MCM10chr10

13225100

+OPTNchr10

13154453

+
5CDS-3UTRENST00000378714ENST00000378757MCM10chr10

13225100

+OPTNchr10

13154453

+
5CDS-3UTRENST00000378714ENST00000378752MCM10chr10

13225100

+OPTNchr10

13154453

+
5CDS-3UTRENST00000378714ENST00000378748MCM10chr10

13225100

+OPTNchr10

13154453

+
5CDS-3UTRENST00000378714ENST00000378747MCM10chr10

13225100

+OPTNchr10

13154453

+
In-frameENST00000484800ENST00000263036MCM10chr10

13225100

+OPTNchr10

13154453

+
In-frameENST00000484800ENST00000378764MCM10chr10

13225100

+OPTNchr10

13154453

+
5CDS-3UTRENST00000484800ENST00000482140MCM10chr10

13225100

+OPTNchr10

13154453

+
5CDS-3UTRENST00000484800ENST00000378757MCM10chr10

13225100

+OPTNchr10

13154453

+
5CDS-3UTRENST00000484800ENST00000378752MCM10chr10

13225100

+OPTNchr10

13154453

+
5CDS-3UTRENST00000484800ENST00000378748MCM10chr10

13225100

+OPTNchr10

13154453

+
5CDS-3UTRENST00000484800ENST00000378747MCM10chr10

13225100

+OPTNchr10

13154453

+
In-frameENST00000378694ENST00000263036MCM10chr10

13225100

+OPTNchr10

13154453

+
In-frameENST00000378694ENST00000378764MCM10chr10

13225100

+OPTNchr10

13154453

+
5CDS-3UTRENST00000378694ENST00000482140MCM10chr10

13225100

+OPTNchr10

13154453

+
5CDS-3UTRENST00000378694ENST00000378757MCM10chr10

13225100

+OPTNchr10

13154453

+
5CDS-3UTRENST00000378694ENST00000378752MCM10chr10

13225100

+OPTNchr10

13154453

+
5CDS-3UTRENST00000378694ENST00000378748MCM10chr10

13225100

+OPTNchr10

13154453

+
5CDS-3UTRENST00000378694ENST00000378747MCM10chr10

13225100

+OPTNchr10

13154453

+

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FusionProtFeatures for MCM10_OPTN


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MCM10

Q7L590

OPTN

Q96CV9


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_142366875Coiled coilOntology_term=ECO:0000255
HgeneMCM10chr10:13225100chr10:13154453ENST00000484800+820104_142367876Coiled coilOntology_term=ECO:0000255
HgeneMCM10chr10:13225100chr10:13154453ENST00000378714+8201_156366875RegionN-terminal domain
HgeneMCM10chr10:13225100chr10:13154453ENST00000484800+8201_156367876RegionN-terminal domain
TgeneOPTNchr10:13225100chr10:13154453ENST00000263036+315239_508123578Coiled coilOntology_term=ECO:0000255
TgeneOPTNchr10:13225100chr10:13154453ENST00000378747+315239_508123578Coiled coilOntology_term=ECO:0000255
TgeneOPTNchr10:13225100chr10:13154453ENST00000378748+416239_508123578Coiled coilOntology_term=ECO:0000255
TgeneOPTNchr10:13225100chr10:13154453ENST00000378752+416239_508123572Coiled coilOntology_term=ECO:0000255
TgeneOPTNchr10:13225100chr10:13154453ENST00000378757+214239_508123578Coiled coilOntology_term=ECO:0000255
TgeneOPTNchr10:13225100chr10:13154453ENST00000378764+315239_508123572Coiled coilOntology_term=ECO:0000255
TgeneOPTNchr10:13225100chr10:13154453ENST00000263036+315176_181123578MotifNote=LIR
TgeneOPTNchr10:13225100chr10:13154453ENST00000263036+315474_479123578MotifNote=UBAN
TgeneOPTNchr10:13225100chr10:13154453ENST00000378747+315176_181123578MotifNote=LIR
TgeneOPTNchr10:13225100chr10:13154453ENST00000378747+315474_479123578MotifNote=UBAN
TgeneOPTNchr10:13225100chr10:13154453ENST00000378748+416176_181123578MotifNote=LIR
TgeneOPTNchr10:13225100chr10:13154453ENST00000378748+416474_479123578MotifNote=UBAN
TgeneOPTNchr10:13225100chr10:13154453ENST00000378752+416176_181123572MotifNote=LIR
TgeneOPTNchr10:13225100chr10:13154453ENST00000378752+416474_479123572MotifNote=UBAN
TgeneOPTNchr10:13225100chr10:13154453ENST00000378757+214176_181123578MotifNote=LIR
TgeneOPTNchr10:13225100chr10:13154453ENST00000378757+214474_479123578MotifNote=UBAN
TgeneOPTNchr10:13225100chr10:13154453ENST00000378764+315176_181123572MotifNote=LIR
TgeneOPTNchr10:13225100chr10:13154453ENST00000378764+315474_479123572MotifNote=UBAN
TgeneOPTNchr10:13225100chr10:13154453ENST00000263036+315547_577123578Zinc fingerCCHC NOA-type
TgeneOPTNchr10:13225100chr10:13154453ENST00000378747+315547_577123578Zinc fingerCCHC NOA-type
TgeneOPTNchr10:13225100chr10:13154453ENST00000378748+416547_577123578Zinc fingerCCHC NOA-type
TgeneOPTNchr10:13225100chr10:13154453ENST00000378752+416547_577123572Zinc fingerCCHC NOA-type
TgeneOPTNchr10:13225100chr10:13154453ENST00000378757+214547_577123578Zinc fingerCCHC NOA-type
TgeneOPTNchr10:13225100chr10:13154453ENST00000378764+315547_577123572Zinc 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_389366875RegionOB-fold domain
HgeneMCM10chr10:13225100chr10:13154453ENST00000378714+820390_415366875RegionNote=Zinc finger-like 1
HgeneMCM10chr10:13225100chr10:13154453ENST00000378714+820783_802366875RegionZinc finger-like 2
HgeneMCM10chr10:13225100chr10:13154453ENST00000378714+820816_836366875RegionZinc finger-like 3
HgeneMCM10chr10:13225100chr10:13154453ENST00000484800+820238_389367876RegionOB-fold domain
HgeneMCM10chr10:13225100chr10:13154453ENST00000484800+820390_415367876RegionNote=Zinc finger-like 1
HgeneMCM10chr10:13225100chr10:13154453ENST00000484800+820783_802367876RegionZinc finger-like 2
HgeneMCM10chr10:13225100chr10:13154453ENST00000484800+820816_836367876RegionZinc finger-like 3
TgeneOPTNchr10:13225100chr10:13154453ENST00000263036+31538_170123578Coiled coilOntology_term=ECO:0000255
TgeneOPTNchr10:13225100chr10:13154453ENST00000378747+31538_170123578Coiled coilOntology_term=ECO:0000255
TgeneOPTNchr10:13225100chr10:13154453ENST00000378748+41638_170123578Coiled coilOntology_term=ECO:0000255
TgeneOPTNchr10:13225100chr10:13154453ENST00000378752+41638_170123572Coiled coilOntology_term=ECO:0000255
TgeneOPTNchr10:13225100chr10:13154453ENST00000378757+21438_170123578Coiled coilOntology_term=ECO:0000255
TgeneOPTNchr10:13225100chr10:13154453ENST00000378764+31538_170123572Coiled coilOntology_term=ECO:0000255


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FusionGeneSequence for MCM10_OPTN


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI 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
MCM10KRT15, CEP70, HOOK2, ZBTB43, CCDC85B, CALCOCO2, CEP72, DPPA2, TRIM37, NINL, MCM6, CCND3, ZBTB8A, MCM7, ORC2, RPAP1, IKBKG, DDB1, RBX1, CUL4A, VPRBP, APP, ORC4, CDC45, MCM2, CDC7, MCM3, CDC5L, CDC6, CCND1, CDK6, ORC3, CDKN2A, CDKN1A, GOLGA2, TEX264, TMEM171, MCMBP, MCM4, SIRT1, NTRK1, HIST1H2BG, PCM1, TNIP1, POLR2G, SUPT5H, OFD1, CCDC14, USP37, YWHAE, IKZF5, CAV3, KLHL40, TPH1, RELL2, CACNG5OPTNCCDC53, TBC1D17, HTT, RAB8A, WDR20, CYLD, RIPK1, CDKN1A, TAX1BP1, CALM1, EIF5A2, KCTD17, MPP1, MPP6, TBK1, YWHAB, YWHAG, YWHAH, YWHAQ, YWHAZ, ZNF384, TFRC, GABARAPL1, MAP1LC3A, MAP1LC3B, UBC, TRAF3, OPTN, MYO6, GRM1, TRADD, SOD1, RNF11, TNFRSF1A, TNF, RAB14, RAB11A, EPS15, TNIP1, PIAS4, RAB12, UQCRQ, FAM178A, GNAS, BRE, RAB25, RAB11B, HACE1, SQSTM1, PARK2, CDC23, DAZAP2, RAB10, ZNF398, TBC1D15, ZNF329, ZNF670, ZDHHC17, GABARAP, GABARAPL2, STX12, RAB3IL1, HSPB1, LNX2, FAM189A2, NRL, MAP1LC3C, MYH6, ATG5, IKBKG, CASP8, AIMP1, ZMYM6, TRIM16, IRAK1, ATG16L1, WIPI2


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with
TgeneOPTNchr10:13225100chr10:13154453ENST00000263036+315411_577123578HD
TgeneOPTNchr10:13225100chr10:13154453ENST00000378747+315411_577123578HD
TgeneOPTNchr10:13225100chr10:13154453ENST00000378748+416411_577123578HD
TgeneOPTNchr10:13225100chr10:13154453ENST00000378752+416411_577123572HD
TgeneOPTNchr10:13225100chr10:13154453ENST00000378757+214411_577123578HD
TgeneOPTNchr10:13225100chr10:13154453ENST00000378764+315411_577123572HD
TgeneOPTNchr10:13225100chr10:13154453ENST00000263036+315412_520123578MYO6
TgeneOPTNchr10:13225100chr10:13154453ENST00000378747+315412_520123578MYO6
TgeneOPTNchr10:13225100chr10:13154453ENST00000378748+416412_520123578MYO6
TgeneOPTNchr10:13225100chr10:13154453ENST00000378752+416412_520123572MYO6
TgeneOPTNchr10:13225100chr10:13154453ENST00000378757+214412_520123578MYO6
TgeneOPTNchr10:13225100chr10:13154453ENST00000378764+315412_520123572MYO6


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with
TgeneOPTNchr10:13225100chr10:13154453ENST00000263036+31558_209123578Rab8
TgeneOPTNchr10:13225100chr10:13154453ENST00000378747+31558_209123578Rab8
TgeneOPTNchr10:13225100chr10:13154453ENST00000378748+41658_209123578Rab8
TgeneOPTNchr10:13225100chr10:13154453ENST00000378752+41658_209123572Rab8
TgeneOPTNchr10:13225100chr10:13154453ENST00000378757+21458_209123578Rab8
TgeneOPTNchr10:13225100chr10:13154453ENST00000378764+31558_209123572Rab8


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for MCM10_OPTN


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for MCM10_OPTN


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneOPTNC0339573Glaucoma, Primary Open Angle11CTD_human;HPO;UNIPROT
TgeneOPTNC0029401Osteitis Deformans1CTD_human
TgeneOPTNC3150692AMYOTROPHIC LATERAL SCLEROSIS 121CTD_human;UNIPROT