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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: 25633

FusionGeneSummary for OTX1_EHBP1

check button Fusion gene summary
Fusion gene informationFusion gene name: OTX1_EHBP1
Fusion gene ID: 25633
HgeneTgene
Gene symbol

OTX1

EHBP1

Gene ID

5013

23301

Gene nameorthodenticle homeobox 1EH domain binding protein 1
Synonyms-HPC12|NACSIN
Cytomap

2p15

2p15

Type of geneprotein-codingprotein-coding
Descriptionhomeobox protein OTX1orthodenticle homolog 1EH domain-binding protein 1NPF calponin-like proteintestis tissue sperm-binding protein Li 50e
Modification date2018051920180519
UniProtAcc

P32242

Q8NDI1

Ensembl transtripts involved in fusion geneENST00000366671, ENST00000282549, 
ENST00000405015, ENST00000431489, 
ENST00000354487, ENST00000263991, 
ENST00000405289, ENST00000496857, 
Fusion gene scores* DoF score2 X 2 X 2=87 X 7 X 5=245
# samples 27
** MAII scorelog2(2/8*10)=1.32192809488736log2(7/245*10)=-1.8073549220576
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: OTX1 [Title/Abstract] AND EHBP1 [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
HgeneOTX1

GO:0045944

positive regulation of transcription by RNA polymerase II

18849347


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
TCGARVSTADTCGA-BR-8590-01AOTX1chr2

63281333

+EHBP1chr2

63206323

+
* 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-frameENST00000366671ENST00000405015OTX1chr2

63281333

+EHBP1chr2

63206323

+
In-frameENST00000366671ENST00000431489OTX1chr2

63281333

+EHBP1chr2

63206323

+
In-frameENST00000366671ENST00000354487OTX1chr2

63281333

+EHBP1chr2

63206323

+
In-frameENST00000366671ENST00000263991OTX1chr2

63281333

+EHBP1chr2

63206323

+
In-frameENST00000366671ENST00000405289OTX1chr2

63281333

+EHBP1chr2

63206323

+
5CDS-3UTRENST00000366671ENST00000496857OTX1chr2

63281333

+EHBP1chr2

63206323

+
In-frameENST00000282549ENST00000405015OTX1chr2

63281333

+EHBP1chr2

63206323

+
In-frameENST00000282549ENST00000431489OTX1chr2

63281333

+EHBP1chr2

63206323

+
In-frameENST00000282549ENST00000354487OTX1chr2

63281333

+EHBP1chr2

63206323

+
In-frameENST00000282549ENST00000263991OTX1chr2

63281333

+EHBP1chr2

63206323

+
In-frameENST00000282549ENST00000405289OTX1chr2

63281333

+EHBP1chr2

63206323

+
5CDS-3UTRENST00000282549ENST00000496857OTX1chr2

63281333

+EHBP1chr2

63206323

+

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FusionProtFeatures for OTX1_EHBP1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
OTX1

P32242

EHBP1

Q8NDI1

Probably plays a role in the development of the brainand the sense organs. Can bind to the BCD target sequence (BTS):5'-TCTAATCCC-3'.

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
TgeneEHBP1chr2:63281333chr2:63206323ENST00000263991+14251076_11008551232Coiled coilOntology_term=ECO:0000255
TgeneEHBP1chr2:63281333chr2:63206323ENST00000263991+14251136_12308551232Coiled coilOntology_term=ECO:0000255
TgeneEHBP1chr2:63281333chr2:63206323ENST00000354487+13241076_11008201197Coiled coilOntology_term=ECO:0000255
TgeneEHBP1chr2:63281333chr2:63206323ENST00000354487+13241136_12308201197Coiled coilOntology_term=ECO:0000255
TgeneEHBP1chr2:63281333chr2:63206323ENST00000405015+13231076_11008201161Coiled coilOntology_term=ECO:0000255
TgeneEHBP1chr2:63281333chr2:63206323ENST00000405015+13231136_12308201161Coiled coilOntology_term=ECO:0000255
TgeneEHBP1chr2:63281333chr2:63206323ENST00000405289+12231076_11008201197Coiled coilOntology_term=ECO:0000255
TgeneEHBP1chr2:63281333chr2:63206323ENST00000405289+12231136_12308201197Coiled coilOntology_term=ECO:0000255
TgeneEHBP1chr2:63281333chr2:63206323ENST00000431489+13231076_11008201161Coiled coilOntology_term=ECO:0000255
TgeneEHBP1chr2:63281333chr2:63206323ENST00000431489+13231136_12308201161Coiled coilOntology_term=ECO:0000255
TgeneEHBP1chr2:63281333chr2:63206323ENST00000263991+14251110_11138551232Compositional biasNote=Poly-Glu
TgeneEHBP1chr2:63281333chr2:63206323ENST00000354487+13241110_11138201197Compositional biasNote=Poly-Glu
TgeneEHBP1chr2:63281333chr2:63206323ENST00000405015+13231110_11138201161Compositional biasNote=Poly-Glu
TgeneEHBP1chr2:63281333chr2:63206323ENST00000405289+12231110_11138201197Compositional biasNote=Poly-Glu
TgeneEHBP1chr2:63281333chr2:63206323ENST00000431489+13231110_11138201161Compositional biasNote=Poly-Glu
TgeneEHBP1chr2:63281333chr2:63206323ENST00000263991+14251056_12128551232DomainbMERB
TgeneEHBP1chr2:63281333chr2:63206323ENST00000354487+13241056_12128201197DomainbMERB
TgeneEHBP1chr2:63281333chr2:63206323ENST00000405015+13231056_12128201161DomainbMERB
TgeneEHBP1chr2:63281333chr2:63206323ENST00000405289+12231056_12128201197DomainbMERB
TgeneEHBP1chr2:63281333chr2:63206323ENST00000431489+13231056_12128201161DomainbMERB
TgeneEHBP1chr2:63281333chr2:63206323ENST00000263991+14251228_12318551232MotifCAAX motif
TgeneEHBP1chr2:63281333chr2:63206323ENST00000354487+13241228_12318201197MotifCAAX motif
TgeneEHBP1chr2:63281333chr2:63206323ENST00000405015+13231228_12318201161MotifCAAX motif
TgeneEHBP1chr2:63281333chr2:63206323ENST00000405289+12231228_12318201197MotifCAAX motif
TgeneEHBP1chr2:63281333chr2:63206323ENST00000431489+13231228_12318201161MotifCAAX motif

- In-frame and not-retained protein feature among the 13 regional features.
>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneOTX1chr2:63281333chr2:63206323ENST00000282549+45275_30183355Compositional biasNote=His-rich
HgeneOTX1chr2:63281333chr2:63206323ENST00000366671+45275_30183355Compositional biasNote=His-rich
HgeneOTX1chr2:63281333chr2:63206323ENST00000282549+4538_9783355DNA bindingHomeobox
HgeneOTX1chr2:63281333chr2:63206323ENST00000366671+4538_9783355DNA bindingHomeobox
TgeneEHBP1chr2:63281333chr2:63206323ENST00000263991+1425185_2108551232Coiled coilOntology_term=ECO:0000255
TgeneEHBP1chr2:63281333chr2:63206323ENST00000263991+1425808_8798551232Coiled coilOntology_term=ECO:0000255
TgeneEHBP1chr2:63281333chr2:63206323ENST00000354487+1324185_2108201197Coiled coilOntology_term=ECO:0000255
TgeneEHBP1chr2:63281333chr2:63206323ENST00000354487+1324808_8798201197Coiled coilOntology_term=ECO:0000255
TgeneEHBP1chr2:63281333chr2:63206323ENST00000405015+1323185_2108201161Coiled coilOntology_term=ECO:0000255
TgeneEHBP1chr2:63281333chr2:63206323ENST00000405015+1323808_8798201161Coiled coilOntology_term=ECO:0000255
TgeneEHBP1chr2:63281333chr2:63206323ENST00000405289+1223185_2108201197Coiled coilOntology_term=ECO:0000255
TgeneEHBP1chr2:63281333chr2:63206323ENST00000405289+1223808_8798201197Coiled coilOntology_term=ECO:0000255
TgeneEHBP1chr2:63281333chr2:63206323ENST00000431489+1323185_2108201161Coiled coilOntology_term=ECO:0000255
TgeneEHBP1chr2:63281333chr2:63206323ENST00000431489+1323808_8798201161Coiled coilOntology_term=ECO:0000255
TgeneEHBP1chr2:63281333chr2:63206323ENST00000263991+1425362_3658551232Compositional biasNote=Poly-Glu
TgeneEHBP1chr2:63281333chr2:63206323ENST00000354487+1324362_3658201197Compositional biasNote=Poly-Glu
TgeneEHBP1chr2:63281333chr2:63206323ENST00000405015+1323362_3658201161Compositional biasNote=Poly-Glu
TgeneEHBP1chr2:63281333chr2:63206323ENST00000405289+1223362_3658201197Compositional biasNote=Poly-Glu
TgeneEHBP1chr2:63281333chr2:63206323ENST00000431489+1323362_3658201161Compositional biasNote=Poly-Glu
TgeneEHBP1chr2:63281333chr2:63206323ENST00000263991+1425443_5488551232DomainCalponin-homology (CH)
TgeneEHBP1chr2:63281333chr2:63206323ENST00000263991+14258_1588551232DomainC2 NT-type
TgeneEHBP1chr2:63281333chr2:63206323ENST00000354487+1324443_5488201197DomainCalponin-homology (CH)
TgeneEHBP1chr2:63281333chr2:63206323ENST00000354487+13248_1588201197DomainC2 NT-type
TgeneEHBP1chr2:63281333chr2:63206323ENST00000405015+1323443_5488201161DomainCalponin-homology (CH)
TgeneEHBP1chr2:63281333chr2:63206323ENST00000405015+13238_1588201161DomainC2 NT-type
TgeneEHBP1chr2:63281333chr2:63206323ENST00000405289+1223443_5488201197DomainCalponin-homology (CH)
TgeneEHBP1chr2:63281333chr2:63206323ENST00000405289+12238_1588201197DomainC2 NT-type
TgeneEHBP1chr2:63281333chr2:63206323ENST00000431489+1323443_5488201161DomainCalponin-homology (CH)
TgeneEHBP1chr2:63281333chr2:63206323ENST00000431489+13238_1588201161DomainC2 NT-type


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FusionGeneSequence for OTX1_EHBP1


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 OTX1_EHBP1


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
OTX1KRTAP4-12, MDFI, CHIC2, RBPMS, COMP, GRN, KRTAP5-9, KRT81, SMARCC1, RGS20, CHRD, SPRY1, SPRY2, RGS17, KCNK16, KRTAP3-2, KRTAP9-2, KRTAP9-4, KRTAP4-7, KRTAP4-2, KRTAP3-3, MGAT5B, LCE4A, LCE1B, LCE2A, LCE2D, KRTAP12-2, KRTAP10-9, KRTAP10-1, KRTAP10-11, KRTAP10-5, KRTAP10-8, KRTAP10-3, KRTAP12-4, KRTAP26-1, KRTAP5-6, GEMIN8P4, KRTAP4-11, EWSR1, ADAMTSL4, DPY30, MTNR1BEHBP1EHD2, KHDRBS2, RPAP2, PACSIN1, COPS5, COPS6, IFT57, OFD1, TMEM17, XPO1, CDH1, SOAT1, NDUFS1, ACAP2, TRIM25


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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RelatedDrugs for OTX1_EHBP1


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 OTX1_EHBP1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneEHBP1C0033578Prostatic Neoplasms1CTD_human