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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: 30954

FusionGeneSummary for REPS1_REPS1

check button Fusion gene summary
Fusion gene informationFusion gene name: REPS1_REPS1
Fusion gene ID: 30954
HgeneTgene
Gene symbol

REPS1

REPS1

Gene ID

85021

85021

Gene nameRALBP1 associated Eps domain containing 1RALBP1 associated Eps domain containing 1
SynonymsNBIA7|RALBP1NBIA7|RALBP1
Cytomap

6q24.1

6q24.1

Type of geneprotein-codingprotein-coding
DescriptionralBP1-associated Eps domain-containing protein 1ralBP1-interacting protein 1ralBP1-associated Eps domain-containing protein 1ralBP1-interacting protein 1
Modification date2018051920180519
UniProtAcc

Q96D71

Q96D71

Ensembl transtripts involved in fusion geneENST00000450536, ENST00000367663, 
ENST00000409812, ENST00000258062, 
ENST00000415951, ENST00000531675, 
ENST00000450536, ENST00000367663, 
ENST00000409812, ENST00000258062, 
ENST00000415951, ENST00000531675, 
Fusion gene scores* DoF score5 X 5 X 2=506 X 5 X 3=90
# samples 66
** MAII scorelog2(6/50*10)=0.263034405833794
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(6/90*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: REPS1 [Title/Abstract] AND REPS1 [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
ChiTaRS3.1BU674501REPS1chr6

139228695

-REPS1chr6

139228506

+
* 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-intronENST00000450536ENST00000450536REPS1chr6

139228695

-REPS1chr6

139228506

+
intron-intronENST00000450536ENST00000367663REPS1chr6

139228695

-REPS1chr6

139228506

+
intron-intronENST00000450536ENST00000409812REPS1chr6

139228695

-REPS1chr6

139228506

+
intron-intronENST00000450536ENST00000258062REPS1chr6

139228695

-REPS1chr6

139228506

+
intron-intronENST00000450536ENST00000415951REPS1chr6

139228695

-REPS1chr6

139228506

+
intron-intronENST00000450536ENST00000531675REPS1chr6

139228695

-REPS1chr6

139228506

+
intron-intronENST00000367663ENST00000450536REPS1chr6

139228695

-REPS1chr6

139228506

+
intron-intronENST00000367663ENST00000367663REPS1chr6

139228695

-REPS1chr6

139228506

+
intron-intronENST00000367663ENST00000409812REPS1chr6

139228695

-REPS1chr6

139228506

+
intron-intronENST00000367663ENST00000258062REPS1chr6

139228695

-REPS1chr6

139228506

+
intron-intronENST00000367663ENST00000415951REPS1chr6

139228695

-REPS1chr6

139228506

+
intron-intronENST00000367663ENST00000531675REPS1chr6

139228695

-REPS1chr6

139228506

+
intron-intronENST00000409812ENST00000450536REPS1chr6

139228695

-REPS1chr6

139228506

+
intron-intronENST00000409812ENST00000367663REPS1chr6

139228695

-REPS1chr6

139228506

+
intron-intronENST00000409812ENST00000409812REPS1chr6

139228695

-REPS1chr6

139228506

+
intron-intronENST00000409812ENST00000258062REPS1chr6

139228695

-REPS1chr6

139228506

+
intron-intronENST00000409812ENST00000415951REPS1chr6

139228695

-REPS1chr6

139228506

+
intron-intronENST00000409812ENST00000531675REPS1chr6

139228695

-REPS1chr6

139228506

+
intron-intronENST00000258062ENST00000450536REPS1chr6

139228695

-REPS1chr6

139228506

+
intron-intronENST00000258062ENST00000367663REPS1chr6

139228695

-REPS1chr6

139228506

+
intron-intronENST00000258062ENST00000409812REPS1chr6

139228695

-REPS1chr6

139228506

+
intron-intronENST00000258062ENST00000258062REPS1chr6

139228695

-REPS1chr6

139228506

+
intron-intronENST00000258062ENST00000415951REPS1chr6

139228695

-REPS1chr6

139228506

+
intron-intronENST00000258062ENST00000531675REPS1chr6

139228695

-REPS1chr6

139228506

+
intron-intronENST00000415951ENST00000450536REPS1chr6

139228695

-REPS1chr6

139228506

+
intron-intronENST00000415951ENST00000367663REPS1chr6

139228695

-REPS1chr6

139228506

+
intron-intronENST00000415951ENST00000409812REPS1chr6

139228695

-REPS1chr6

139228506

+
intron-intronENST00000415951ENST00000258062REPS1chr6

139228695

-REPS1chr6

139228506

+
intron-intronENST00000415951ENST00000415951REPS1chr6

139228695

-REPS1chr6

139228506

+
intron-intronENST00000415951ENST00000531675REPS1chr6

139228695

-REPS1chr6

139228506

+
intron-intronENST00000531675ENST00000450536REPS1chr6

139228695

-REPS1chr6

139228506

+
intron-intronENST00000531675ENST00000367663REPS1chr6

139228695

-REPS1chr6

139228506

+
intron-intronENST00000531675ENST00000409812REPS1chr6

139228695

-REPS1chr6

139228506

+
intron-intronENST00000531675ENST00000258062REPS1chr6

139228695

-REPS1chr6

139228506

+
intron-intronENST00000531675ENST00000415951REPS1chr6

139228695

-REPS1chr6

139228506

+
intron-intronENST00000531675ENST00000531675REPS1chr6

139228695

-REPS1chr6

139228506

+

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FusionProtFeatures for REPS1_REPS1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
REPS1

Q96D71

REPS1

Q96D71


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 REPS1_REPS1


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 REPS1_REPS1


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 REPS1_REPS1


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 REPS1_REPS1


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