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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: 3762

FusionGeneSummary for B9D2_REEP6

check button Fusion gene summary
Fusion gene informationFusion gene name: B9D2_REEP6
Fusion gene ID: 3762
HgeneTgene
Gene symbol

B9D2

REEP6

Gene ID

80776

92840

Gene nameB9 domain containing 2receptor accessory protein 6
SynonymsICIS-1|JBTS34|MKS10|MKSR2C19orf32|DP1L1|REEP6.1|REEP6.2|RP77|TB2L1|Yip2f
Cytomap

19q13.2

19p13.3

Type of geneprotein-codingprotein-coding
DescriptionB9 domain-containing protein 2B9 protein domain 2MKS1-related protein 2involved in cIlia stability-1receptor expression-enhancing protein 6deleted in polyposis 1-like 1polyposis locus protein 1-like 1
Modification date2018052220180522
UniProtAcc

Q9BPU9

Q96HR9

Ensembl transtripts involved in fusion geneENST00000243578, ENST00000601597, 
ENST00000233596, 
Fusion gene scores* DoF score2 X 2 X 2=82 X 2 X 2=8
# samples 22
** MAII scorelog2(2/8*10)=1.32192809488736log2(2/8*10)=1.32192809488736
Context

PubMed: B9D2 [Title/Abstract] AND REEP6 [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
TCGARVESCATCGA-L5-A891-01AB9D2chr19

41869337

-REEP6chr19

1495293

+
* 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
Frame-shiftENST00000243578ENST00000233596B9D2chr19

41869337

-REEP6chr19

1495293

+
5UTR-3CDSENST00000601597ENST00000233596B9D2chr19

41869337

-REEP6chr19

1495293

+

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FusionProtFeatures for B9D2_REEP6


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
B9D2

Q9BPU9

REEP6

Q96HR9

Component of the tectonic-like complex, a complexlocalized at the transition zone of primary cilia and acting as abarrier that prevents diffusion of transmembrane proteins betweenthe cilia and plasma membranes. {ECO:0000269|PubMed:21763481}. May play a role in intracellular protein transport fromthe endoplasmic reticulum to the cell surface (By similarity).Required for correct function and survival of retinalphotoreceptors (PubMed:27889058). {ECO:0000250|UniProtKB:Q9JM62,ECO:0000269|PubMed:27889058}.

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 B9D2_REEP6


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 B9D2_REEP6


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
B9D2TMEM231, ANP32A, ARID1B, B9D1, BCOR, CNOT7, CPSF7, DCAF7, DNMT1, EIF4ENIF1, FAM208A, FUBP3, GRIP1, HNRNPM, IBTK, KDM1A, CCAR2, LEMD3, LIN54, MATR3, MKS1, MOB4, MTR, NCOA5, NOP58, NUP107, NUP133, NUP153, NUP160, NUP43, NUP50, NUP85, NUP98, NUPL1, PASK, PCGF1, PPIH, PWP2, RAVER1, RBM12B, RBM20, RCOR1, RGPD3, RPRD2, SEC13, SRSF10, SUGP2, TCTN2, TCTN3, TJP1, TNRC6B, WDR33, YLPM1, YTHDF1, YTHDF2, YTHDF3, ZNF318, ZNF326, CKB, CC2D2A, TCTN1REEP6FAM160A2, RPS20, SNX1, PTPN9, SDCBP, LITAF, TENC1, TXN2, SNX15, SPG21, ADCK3, ZFYVE21, HMBOX1, REEP6, TMEM185A, IL2RG, LPAR1, KLRF1, CLEC5A, REEP5, PLP1, TMEM128, FPR2, VIPR1, GPR114, CDS1, TSPAN2, SYPL2, IPPK, S1PR2, LMNA


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 B9D2_REEP6


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 B9D2_REEP6


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneB9D2C3280036MECKEL SYNDROME, TYPE 101UNIPROT