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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: 25458

FusionGeneSummary for OPTN_OPTN

check button Fusion gene summary
Fusion gene informationFusion gene name: OPTN_OPTN
Fusion gene ID: 25458
HgeneTgene
Gene symbol

OPTN

OPTN

Gene ID

10133

10133

Gene nameoptineurinoptineurin
SynonymsALS12|FIP2|GLC1E|HIP7|HYPL|NRP|TFIIIA-INTPALS12|FIP2|GLC1E|HIP7|HYPL|NRP|TFIIIA-INTP
Cytomap

10p13

10p13

Type of geneprotein-codingprotein-coding
DescriptionoptineurinE3-14.7K-interacting proteinFIP-2HIP-7Huntingtin interacting protein Lhuntingtin yeast partner Lhuntingtin-interacting protein 7huntingtin-interacting protein Lnemo-related proteinoptic neuropathy-inducing proteintranscription factor IoptineurinE3-14.7K-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

Q96CV9

Q96CV9

Ensembl transtripts involved in fusion geneENST00000263036, ENST00000378764, 
ENST00000482140, ENST00000378757, 
ENST00000378752, ENST00000378748, 
ENST00000378747, 		ENST00000263036, 
ENST00000378764, ENST00000482140, 
ENST00000378757, ENST00000378752, 
ENST00000378748, ENST00000378747, 
Fusion gene scores* DoF score3 X 3 X 1=93 X 2 X 3=18
# samples 33
** MAII scorelog2(3/9*10)=1.73696559416621
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: OPTN [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
HgeneOPTN

GO:0010508

positive regulation of autophagy

21617041

HgeneOPTN

GO:0090161

Golgi ribbon formation

15837803

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
ChiTaRS3.1CB242718OPTNchr10

13179836

-OPTNchr10

13179766

+
* 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
intron-intronENST00000263036ENST00000263036OPTNchr10

13179836

-OPTNchr10

13179766

+
intron-intronENST00000263036ENST00000378764OPTNchr10

13179836

-OPTNchr10

13179766

+
intron-intronENST00000263036ENST00000482140OPTNchr10

13179836

-OPTNchr10

13179766

+
intron-3UTRENST00000263036ENST00000378757OPTNchr10

13179836

-OPTNchr10

13179766

+
intron-3UTRENST00000263036ENST00000378752OPTNchr10

13179836

-OPTNchr10

13179766

+
intron-3UTRENST00000263036ENST00000378748OPTNchr10

13179836

-OPTNchr10

13179766

+
intron-3UTRENST00000263036ENST00000378747OPTNchr10

13179836

-OPTNchr10

13179766

+
intron-intronENST00000378764ENST00000263036OPTNchr10

13179836

-OPTNchr10

13179766

+
intron-intronENST00000378764ENST00000378764OPTNchr10

13179836

-OPTNchr10

13179766

+
intron-intronENST00000378764ENST00000482140OPTNchr10

13179836

-OPTNchr10

13179766

+
intron-3UTRENST00000378764ENST00000378757OPTNchr10

13179836

-OPTNchr10

13179766

+
intron-3UTRENST00000378764ENST00000378752OPTNchr10

13179836

-OPTNchr10

13179766

+
intron-3UTRENST00000378764ENST00000378748OPTNchr10

13179836

-OPTNchr10

13179766

+
intron-3UTRENST00000378764ENST00000378747OPTNchr10

13179836

-OPTNchr10

13179766

+
intron-intronENST00000482140ENST00000263036OPTNchr10

13179836

-OPTNchr10

13179766

+
intron-intronENST00000482140ENST00000378764OPTNchr10

13179836

-OPTNchr10

13179766

+
intron-intronENST00000482140ENST00000482140OPTNchr10

13179836

-OPTNchr10

13179766

+
intron-3UTRENST00000482140ENST00000378757OPTNchr10

13179836

-OPTNchr10

13179766

+
intron-3UTRENST00000482140ENST00000378752OPTNchr10

13179836

-OPTNchr10

13179766

+
intron-3UTRENST00000482140ENST00000378748OPTNchr10

13179836

-OPTNchr10

13179766

+
intron-3UTRENST00000482140ENST00000378747OPTNchr10

13179836

-OPTNchr10

13179766

+
3UTR-intronENST00000378757ENST00000263036OPTNchr10

13179836

-OPTNchr10

13179766

+
3UTR-intronENST00000378757ENST00000378764OPTNchr10

13179836

-OPTNchr10

13179766

+
3UTR-intronENST00000378757ENST00000482140OPTNchr10

13179836

-OPTNchr10

13179766

+
3UTR-3UTRENST00000378757ENST00000378757OPTNchr10

13179836

-OPTNchr10

13179766

+
3UTR-3UTRENST00000378757ENST00000378752OPTNchr10

13179836

-OPTNchr10

13179766

+
3UTR-3UTRENST00000378757ENST00000378748OPTNchr10

13179836

-OPTNchr10

13179766

+
3UTR-3UTRENST00000378757ENST00000378747OPTNchr10

13179836

-OPTNchr10

13179766

+
3UTR-intronENST00000378752ENST00000263036OPTNchr10

13179836

-OPTNchr10

13179766

+
3UTR-intronENST00000378752ENST00000378764OPTNchr10

13179836

-OPTNchr10

13179766

+
3UTR-intronENST00000378752ENST00000482140OPTNchr10

13179836

-OPTNchr10

13179766

+
3UTR-3UTRENST00000378752ENST00000378757OPTNchr10

13179836

-OPTNchr10

13179766

+
3UTR-3UTRENST00000378752ENST00000378752OPTNchr10

13179836

-OPTNchr10

13179766

+
3UTR-3UTRENST00000378752ENST00000378748OPTNchr10

13179836

-OPTNchr10

13179766

+
3UTR-3UTRENST00000378752ENST00000378747OPTNchr10

13179836

-OPTNchr10

13179766

+
3UTR-intronENST00000378748ENST00000263036OPTNchr10

13179836

-OPTNchr10

13179766

+
3UTR-intronENST00000378748ENST00000378764OPTNchr10

13179836

-OPTNchr10

13179766

+
3UTR-intronENST00000378748ENST00000482140OPTNchr10

13179836

-OPTNchr10

13179766

+
3UTR-3UTRENST00000378748ENST00000378757OPTNchr10

13179836

-OPTNchr10

13179766

+
3UTR-3UTRENST00000378748ENST00000378752OPTNchr10

13179836

-OPTNchr10

13179766

+
3UTR-3UTRENST00000378748ENST00000378748OPTNchr10

13179836

-OPTNchr10

13179766

+
3UTR-3UTRENST00000378748ENST00000378747OPTNchr10

13179836

-OPTNchr10

13179766

+
3UTR-intronENST00000378747ENST00000263036OPTNchr10

13179836

-OPTNchr10

13179766

+
3UTR-intronENST00000378747ENST00000378764OPTNchr10

13179836

-OPTNchr10

13179766

+
3UTR-intronENST00000378747ENST00000482140OPTNchr10

13179836

-OPTNchr10

13179766

+
3UTR-3UTRENST00000378747ENST00000378757OPTNchr10

13179836

-OPTNchr10

13179766

+
3UTR-3UTRENST00000378747ENST00000378752OPTNchr10

13179836

-OPTNchr10

13179766

+
3UTR-3UTRENST00000378747ENST00000378748OPTNchr10

13179836

-OPTNchr10

13179766

+
3UTR-3UTRENST00000378747ENST00000378747OPTNchr10

13179836

-OPTNchr10

13179766

+

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FusionProtFeatures for OPTN_OPTN


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

Q96CV9

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

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for OPTN_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 OPTN_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


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


Top

RelatedDrugs for OPTN_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 OPTN_OPTN


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneOPTNC0339573Glaucoma, Primary Open Angle11CTD_human;HPO;UNIPROT
HgeneOPTNC0029401Osteitis Deformans1CTD_human
HgeneOPTNC3150692AMYOTROPHIC LATERAL SCLEROSIS 121CTD_human;UNIPROT
TgeneOPTNC0339573Glaucoma, Primary Open Angle11CTD_human;HPO;UNIPROT
TgeneOPTNC0029401Osteitis Deformans1CTD_human
TgeneOPTNC3150692AMYOTROPHIC LATERAL SCLEROSIS 121CTD_human;UNIPROT