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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: 29885

FusionGeneSummary for RAB11FIP1_SV2C

check button Fusion gene summary
Fusion gene informationFusion gene name: RAB11FIP1_SV2C
Fusion gene ID: 29885
HgeneTgene
Gene symbol

RAB11FIP1

SV2C

Gene ID

80223

22987

Gene nameRAB11 family interacting protein 1synaptic vesicle glycoprotein 2C
SynonymsNOEL1A|RCP|rab11-FIP1-
Cytomap

8p11.23

5q13.3

Type of geneprotein-codingprotein-coding
Descriptionrab11 family-interacting protein 1RAB11 coupling proteinRAB11 family interacting protein 1 (class I)Rab effector proteinRab-interacting recycling proteinsynaptic vesicle glycoprotein 2Csynaptic vesicle protein 2C
Modification date2018052320180523
UniProtAcc

Q6WKZ4

Q496J9

Ensembl transtripts involved in fusion geneENST00000287263, ENST00000330843, 
ENST00000522727, ENST00000523182, 
ENST00000524118, 
ENST00000502798, 
ENST00000322285, 
Fusion gene scores* DoF score9 X 9 X 4=3241 X 1 X 1=1
# samples 101
** MAII scorelog2(10/324*10)=-1.6959938131099
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(1/1*10)=3.32192809488736
Context

PubMed: RAB11FIP1 [Title/Abstract] AND SV2C [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


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
ChiTaRS3.1BM825908RAB11FIP1chr8

37718823

-SV2Cchr5

75538217

-
* 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-intronENST00000287263ENST00000502798RAB11FIP1chr8

37718823

-SV2Cchr5

75538217

-
intron-intronENST00000287263ENST00000322285RAB11FIP1chr8

37718823

-SV2Cchr5

75538217

-
intron-intronENST00000330843ENST00000502798RAB11FIP1chr8

37718823

-SV2Cchr5

75538217

-
intron-intronENST00000330843ENST00000322285RAB11FIP1chr8

37718823

-SV2Cchr5

75538217

-
intron-intronENST00000522727ENST00000502798RAB11FIP1chr8

37718823

-SV2Cchr5

75538217

-
intron-intronENST00000522727ENST00000322285RAB11FIP1chr8

37718823

-SV2Cchr5

75538217

-
intron-intronENST00000523182ENST00000502798RAB11FIP1chr8

37718823

-SV2Cchr5

75538217

-
intron-intronENST00000523182ENST00000322285RAB11FIP1chr8

37718823

-SV2Cchr5

75538217

-
intron-intronENST00000524118ENST00000502798RAB11FIP1chr8

37718823

-SV2Cchr5

75538217

-
intron-intronENST00000524118ENST00000322285RAB11FIP1chr8

37718823

-SV2Cchr5

75538217

-

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FusionProtFeatures for RAB11FIP1_SV2C


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

Q6WKZ4

SV2C

Q496J9

Plays a role in the control of regulated secretion inneural and endocrine cells, enhancing selectively low-frequencyneurotransmission. Positively regulates vesicle fusion bymaintaining the readily releasable pool of secretory vesicles.{ECO:0000250|UniProtKB:Q9Z2I6}. (Microbial infection) Receptor for the botuliniumneurotoxin type A/BOTA. {ECO:0000269|PubMed:27294781,ECO:0000269|PubMed:28252640}.

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_SV2C


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_SV2C


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 RAB11FIP1_SV2C


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_SV2C


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