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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: 30955

FusionGeneSummary for REPS1_ZNF669

check button Fusion gene summary
Fusion gene informationFusion gene name: REPS1_ZNF669
Fusion gene ID: 30955
HgeneTgene
Gene symbol

REPS1

ZNF669

Gene ID

85021

79862

Gene nameRALBP1 associated Eps domain containing 1zinc finger protein 669
SynonymsNBIA7|RALBP1-
Cytomap

6q24.1

1q44

Type of geneprotein-codingprotein-coding
DescriptionralBP1-associated Eps domain-containing protein 1ralBP1-interacting protein 1zinc finger protein 669
Modification date2018051920180523
UniProtAcc

Q96D71

Q96BR6

Ensembl transtripts involved in fusion geneENST00000450536, ENST00000367663, 
ENST00000409812, ENST00000258062, 
ENST00000415951, ENST00000531675, 
ENST00000448299, ENST00000358785, 
ENST00000343381, ENST00000366501, 
ENST00000366500, 
Fusion gene scores* DoF score5 X 5 X 2=502 X 2 X 2=8
# samples 62
** MAII scorelog2(6/50*10)=0.263034405833794
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(2/8*10)=1.32192809488736
Context

PubMed: REPS1 [Title/Abstract] AND ZNF669 [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
ChiTaRS3.1BE933804REPS1chr6

139225672

-ZNF669chr1

247264055

+
* 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-3CDSENST00000450536ENST00000448299REPS1chr6

139225672

-ZNF669chr1

247264055

+
intron-3UTRENST00000450536ENST00000358785REPS1chr6

139225672

-ZNF669chr1

247264055

+
intron-3UTRENST00000450536ENST00000343381REPS1chr6

139225672

-ZNF669chr1

247264055

+
intron-intronENST00000450536ENST00000366501REPS1chr6

139225672

-ZNF669chr1

247264055

+
intron-intronENST00000450536ENST00000366500REPS1chr6

139225672

-ZNF669chr1

247264055

+
intron-3CDSENST00000367663ENST00000448299REPS1chr6

139225672

-ZNF669chr1

247264055

+
intron-3UTRENST00000367663ENST00000358785REPS1chr6

139225672

-ZNF669chr1

247264055

+
intron-3UTRENST00000367663ENST00000343381REPS1chr6

139225672

-ZNF669chr1

247264055

+
intron-intronENST00000367663ENST00000366501REPS1chr6

139225672

-ZNF669chr1

247264055

+
intron-intronENST00000367663ENST00000366500REPS1chr6

139225672

-ZNF669chr1

247264055

+
intron-3CDSENST00000409812ENST00000448299REPS1chr6

139225672

-ZNF669chr1

247264055

+
intron-3UTRENST00000409812ENST00000358785REPS1chr6

139225672

-ZNF669chr1

247264055

+
intron-3UTRENST00000409812ENST00000343381REPS1chr6

139225672

-ZNF669chr1

247264055

+
intron-intronENST00000409812ENST00000366501REPS1chr6

139225672

-ZNF669chr1

247264055

+
intron-intronENST00000409812ENST00000366500REPS1chr6

139225672

-ZNF669chr1

247264055

+
intron-3CDSENST00000258062ENST00000448299REPS1chr6

139225672

-ZNF669chr1

247264055

+
intron-3UTRENST00000258062ENST00000358785REPS1chr6

139225672

-ZNF669chr1

247264055

+
intron-3UTRENST00000258062ENST00000343381REPS1chr6

139225672

-ZNF669chr1

247264055

+
intron-intronENST00000258062ENST00000366501REPS1chr6

139225672

-ZNF669chr1

247264055

+
intron-intronENST00000258062ENST00000366500REPS1chr6

139225672

-ZNF669chr1

247264055

+
intron-3CDSENST00000415951ENST00000448299REPS1chr6

139225672

-ZNF669chr1

247264055

+
intron-3UTRENST00000415951ENST00000358785REPS1chr6

139225672

-ZNF669chr1

247264055

+
intron-3UTRENST00000415951ENST00000343381REPS1chr6

139225672

-ZNF669chr1

247264055

+
intron-intronENST00000415951ENST00000366501REPS1chr6

139225672

-ZNF669chr1

247264055

+
intron-intronENST00000415951ENST00000366500REPS1chr6

139225672

-ZNF669chr1

247264055

+
intron-3CDSENST00000531675ENST00000448299REPS1chr6

139225672

-ZNF669chr1

247264055

+
intron-3UTRENST00000531675ENST00000358785REPS1chr6

139225672

-ZNF669chr1

247264055

+
intron-3UTRENST00000531675ENST00000343381REPS1chr6

139225672

-ZNF669chr1

247264055

+
intron-intronENST00000531675ENST00000366501REPS1chr6

139225672

-ZNF669chr1

247264055

+
intron-intronENST00000531675ENST00000366500REPS1chr6

139225672

-ZNF669chr1

247264055

+

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FusionProtFeatures for REPS1_ZNF669


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

Q96D71

ZNF669

Q96BR6

May be involved in transcriptional regulation.

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_ZNF669


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_ZNF669


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_ZNF669


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_ZNF669


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