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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: 12357

FusionGeneSummary for EYS_SCARB2

check button Fusion gene summary
Fusion gene informationFusion gene name: EYS_SCARB2
Fusion gene ID: 12357
HgeneTgene
Gene symbol

EYS

SCARB2

Gene ID

346007

950

Gene nameeyes shut homolog (Drosophila)scavenger receptor class B member 2
SynonymsC6orf178|C6orf179|C6orf180|EGFL10|EGFL11|RP25|SPAM|bA166P24.2|bA307F22.3|bA74E24.1|dJ1018A4.2|dJ22I17.2|dJ303F19.1AMRF|CD36L2|EPM4|HLGP85|LGP85|LIMP-2|LIMPII|SR-BII
Cytomap

6q12

4q21.1

Type of geneprotein-codingprotein-coding
Descriptionprotein eyes shut homologEGF-like-domain, multiple 10EGF-like-domain, multiple 11epidermal growth factor-like protein 10epidermal growth factor-like protein 11protein spacemaker homologlysosome membrane protein 285 kDa lysosomal membrane sialoglycoprotein85 kDa lysosomal sialoglycoprotein scavenger receptor class B, member 2CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 2 (lysosomal integral membrane protein II
Modification date2018051920180519
UniProtAcc

Q5T1H1

Q14108

Ensembl transtripts involved in fusion geneENST00000503581, ENST00000370621, 
ENST00000370616, ENST00000393380, 
ENST00000342421, ENST00000370618, 
ENST00000486069, 
ENST00000264896, 
ENST00000452464, 
Fusion gene scores* DoF score3 X 3 X 3=275 X 4 X 3=60
# samples 35
** MAII scorelog2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(5/60*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: EYS [Title/Abstract] AND SCARB2 [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

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
ChiTaRS3.1AV711464EYSchr6

64489077

+SCARB2chr4

77080626

-
* 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-3UTRENST00000503581ENST00000264896EYSchr6

64489077

+SCARB2chr4

77080626

-
intron-intronENST00000503581ENST00000452464EYSchr6

64489077

+SCARB2chr4

77080626

-
intron-3UTRENST00000370621ENST00000264896EYSchr6

64489077

+SCARB2chr4

77080626

-
intron-intronENST00000370621ENST00000452464EYSchr6

64489077

+SCARB2chr4

77080626

-
intron-3UTRENST00000370616ENST00000264896EYSchr6

64489077

+SCARB2chr4

77080626

-
intron-intronENST00000370616ENST00000452464EYSchr6

64489077

+SCARB2chr4

77080626

-
intron-3UTRENST00000393380ENST00000264896EYSchr6

64489077

+SCARB2chr4

77080626

-
intron-intronENST00000393380ENST00000452464EYSchr6

64489077

+SCARB2chr4

77080626

-
intron-3UTRENST00000342421ENST00000264896EYSchr6

64489077

+SCARB2chr4

77080626

-
intron-intronENST00000342421ENST00000452464EYSchr6

64489077

+SCARB2chr4

77080626

-
intron-3UTRENST00000370618ENST00000264896EYSchr6

64489077

+SCARB2chr4

77080626

-
intron-intronENST00000370618ENST00000452464EYSchr6

64489077

+SCARB2chr4

77080626

-
intron-3UTRENST00000486069ENST00000264896EYSchr6

64489077

+SCARB2chr4

77080626

-
intron-intronENST00000486069ENST00000452464EYSchr6

64489077

+SCARB2chr4

77080626

-

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FusionProtFeatures for EYS_SCARB2


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

Q5T1H1

SCARB2

Q14108

Acts as a lysosomal receptor for glucosylceramidase(GBA) targeting. {ECO:0000269|PubMed:18022370}. (Microbial infection) Acts as a receptor for enterovirus71. {ECO:0000269|PubMed:19543282}.

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 EYS_SCARB2


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 EYS_SCARB2


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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RelatedDrugs for EYS_SCARB2


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 EYS_SCARB2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneEYSC1864446Retinitis Pigmentosa 252CTD_human;UNIPROT
HgeneEYSC0035334Retinitis Pigmentosa1CTD_human;ORPHANET
TgeneSCARB2C0751779Action Myoclonus-Renal Failure Syndrome1CTD_human;ORPHANET;UNIPROT