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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: 29879

FusionGeneSummary for RAB11FIP1_ATP6V1H

check button Fusion gene summary
Fusion gene informationFusion gene name: RAB11FIP1_ATP6V1H
Fusion gene ID: 29879
HgeneTgene
Gene symbol

RAB11FIP1

ATP6V1H

Gene ID

80223

51606

Gene nameRAB11 family interacting protein 1ATPase H+ transporting V1 subunit H
SynonymsNOEL1A|RCP|rab11-FIP1CGI-11|MSTP042|NBP1|SFD|SFDalpha|SFDbeta|VMA13
Cytomap

8p11.23

8q11.23

Type of geneprotein-codingprotein-coding
Descriptionrab11 family-interacting protein 1RAB11 coupling proteinRAB11 family interacting protein 1 (class I)Rab effector proteinRab-interacting recycling proteinV-type proton ATPase subunit HATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit HV-ATPase 50/57 kDa subunitsV-ATPase subunit Hnef-binding protein 1protein VMA13 homologvacuolar ATP synthase subunit Hvacuolar ATPase subunit Hvacuolar proton p
Modification date2018052320180522
UniProtAcc

Q6WKZ4

Q9UI12

Ensembl transtripts involved in fusion geneENST00000287263, ENST00000330843, 
ENST00000522727, ENST00000523182, 
ENST00000524118, 
ENST00000355221, 
ENST00000520188, ENST00000359530, 
ENST00000523899, ENST00000396774, 
Fusion gene scores* DoF score9 X 9 X 4=3244 X 4 X 4=64
# samples 105
** MAII scorelog2(10/324*10)=-1.6959938131099
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/64*10)=-0.356143810225275
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: RAB11FIP1 [Title/Abstract] AND ATP6V1H [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
HgeneRAB11FIP1

GO:0070164

negative regulation of adiponectin secretion

24040321

TgeneATP6V1H

GO:0006897

endocytosis

12032142


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
TCGALDLUADTCGA-55-6969-01ARAB11FIP1chr8

37720255

-ATP6V1Hchr8

54714456

-
* 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-3CDSENST00000287263ENST00000355221RAB11FIP1chr8

37720255

-ATP6V1Hchr8

54714456

-
intron-3CDSENST00000287263ENST00000520188RAB11FIP1chr8

37720255

-ATP6V1Hchr8

54714456

-
intron-3CDSENST00000287263ENST00000359530RAB11FIP1chr8

37720255

-ATP6V1Hchr8

54714456

-
intron-intronENST00000287263ENST00000523899RAB11FIP1chr8

37720255

-ATP6V1Hchr8

54714456

-
intron-intronENST00000287263ENST00000396774RAB11FIP1chr8

37720255

-ATP6V1Hchr8

54714456

-
intron-3CDSENST00000330843ENST00000355221RAB11FIP1chr8

37720255

-ATP6V1Hchr8

54714456

-
intron-3CDSENST00000330843ENST00000520188RAB11FIP1chr8

37720255

-ATP6V1Hchr8

54714456

-
intron-3CDSENST00000330843ENST00000359530RAB11FIP1chr8

37720255

-ATP6V1Hchr8

54714456

-
intron-intronENST00000330843ENST00000523899RAB11FIP1chr8

37720255

-ATP6V1Hchr8

54714456

-
intron-intronENST00000330843ENST00000396774RAB11FIP1chr8

37720255

-ATP6V1Hchr8

54714456

-
intron-3CDSENST00000522727ENST00000355221RAB11FIP1chr8

37720255

-ATP6V1Hchr8

54714456

-
intron-3CDSENST00000522727ENST00000520188RAB11FIP1chr8

37720255

-ATP6V1Hchr8

54714456

-
intron-3CDSENST00000522727ENST00000359530RAB11FIP1chr8

37720255

-ATP6V1Hchr8

54714456

-
intron-intronENST00000522727ENST00000523899RAB11FIP1chr8

37720255

-ATP6V1Hchr8

54714456

-
intron-intronENST00000522727ENST00000396774RAB11FIP1chr8

37720255

-ATP6V1Hchr8

54714456

-
intron-3CDSENST00000523182ENST00000355221RAB11FIP1chr8

37720255

-ATP6V1Hchr8

54714456

-
intron-3CDSENST00000523182ENST00000520188RAB11FIP1chr8

37720255

-ATP6V1Hchr8

54714456

-
intron-3CDSENST00000523182ENST00000359530RAB11FIP1chr8

37720255

-ATP6V1Hchr8

54714456

-
intron-intronENST00000523182ENST00000523899RAB11FIP1chr8

37720255

-ATP6V1Hchr8

54714456

-
intron-intronENST00000523182ENST00000396774RAB11FIP1chr8

37720255

-ATP6V1Hchr8

54714456

-
intron-3CDSENST00000524118ENST00000355221RAB11FIP1chr8

37720255

-ATP6V1Hchr8

54714456

-
intron-3CDSENST00000524118ENST00000520188RAB11FIP1chr8

37720255

-ATP6V1Hchr8

54714456

-
intron-3CDSENST00000524118ENST00000359530RAB11FIP1chr8

37720255

-ATP6V1Hchr8

54714456

-
intron-intronENST00000524118ENST00000523899RAB11FIP1chr8

37720255

-ATP6V1Hchr8

54714456

-
intron-intronENST00000524118ENST00000396774RAB11FIP1chr8

37720255

-ATP6V1Hchr8

54714456

-

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FusionProtFeatures for RAB11FIP1_ATP6V1H


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RAB11FIP1

Q6WKZ4

ATP6V1H

Q9UI12

Subunit of the peripheral V1 complex of vacuolar ATPase.Subunit H activates the ATPase activity of the enzyme and couplesATPase activity to proton flow. Vacuolar ATPase is responsible foracidifying a variety of intracellular compartments in eukaryoticcells, thus providing most of the energy required for transportprocesses in the vacuolar system (By similarity). Involved in theendocytosis mediated by clathrin-coated pits, required for theformation of endosomes. {ECO:0000250}.

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 RAB11FIP1_ATP6V1H


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 RAB11FIP1_ATP6V1H


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
RAB11FIP1RAB11A, RAB11FIP1, RAB11FIP2, RAB4A, RAB11B, RAB25, YWHAE, RAB14, YWHAB, FAM217B, RELT, ASAP1, FGFR1OP, DYNLT1, XPO1, CTBP2, KLC1, PDGFRA, IKBKG, BAIAP2, RASSF8, PTPRH, PTPRJ, NOLC1, YWHAZ, PIP4K2A, YWHAG, CBY1, TRIM25ATP6V1HATP6V1E1, ATP6V1B1, ATP6V1D, ATP6V1F, ATP6V1B2, RAB11B, RMDN3, VDAC2, HNRNPUL1, UBE2N, ZMPSTE24, DDX28, VDAC3, PROCR, ZFAND5, ATP5F1, UBQLN1, SORBS3, ABCC1, EEF2, USP3, EGFR, SOX9, TANK, GMPPB, PDXDC1, USP47, WDR44, UNK, C6orf211, ATP6V0D1, ATP6V1A, MRPL1, CDC42, HSD17B10, STMN1, MED20, RAB2A, GOLT1B, ARMC6, NF2, FAF2, MAS1, TES


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 RAB11FIP1_ATP6V1H


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 RAB11FIP1_ATP6V1H


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