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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: 29892

FusionGeneSummary for RAB11FIP3_PLEC

check button Fusion gene summary
Fusion gene informationFusion gene name: RAB11FIP3_PLEC
Fusion gene ID: 29892
HgeneTgene
Gene symbol

RAB11FIP3

PLEC

Gene ID

9727

5339

Gene nameRAB11 family interacting protein 3plectin
SynonymsCART1|Rab11-FIP3EBS1|EBSMD|EBSND|EBSO|EBSOG|EBSPA|HD1|LGMD2Q|PCN|PLEC1|PLEC1b|PLTN
Cytomap

16p13.3

8q24.3

Type of geneprotein-codingprotein-coding
Descriptionrab11 family-interacting protein 3EF hands-containing Rab-interacting proteinFIP3-Rab11MU-MB-17.148PAC196A12.1RAB11 family interacting protein 3 (class II)arfophilin-1cytoplasmic adaptor for RAR and TReferinplectinhemidesmosomal protein 1plectin 1, intermediate filament binding protein 500kDa
Modification date2018052320180523
UniProtAcc

O75154

Q15149

Ensembl transtripts involved in fusion geneENST00000262305, ENST00000457159, 
ENST00000450428, 		ENST00000345136, 
ENST00000357649, ENST00000354589, 
ENST00000398774, ENST00000322810, 
ENST00000354958, ENST00000356346, 
ENST00000436759, ENST00000527096, 
Fusion gene scores* DoF score5 X 5 X 4=1006 X 5 X 3=90
# samples 87
** MAII scorelog2(8/100*10)=-0.321928094887362
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(7/90*10)=-0.362570079384708
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: RAB11FIP3 [Title/Abstract] AND PLEC [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
HgeneRAB11FIP3

GO:0032456

endocytic recycling

17394487

HgeneRAB11FIP3

GO:0070164

negative regulation of adiponectin secretion

24040321

TgenePLEC

GO:0031581

hemidesmosome assembly

12482924


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
TCGALDUCECTCGA-5B-A90C-01ARAB11FIP3chr16

532736

+PLECchr8

145012860

-
* 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-shiftENST00000262305ENST00000345136RAB11FIP3chr16

532736

+PLECchr8

145012860

-
Frame-shiftENST00000262305ENST00000357649RAB11FIP3chr16

532736

+PLECchr8

145012860

-
Frame-shiftENST00000262305ENST00000354589RAB11FIP3chr16

532736

+PLECchr8

145012860

-
Frame-shiftENST00000262305ENST00000398774RAB11FIP3chr16

532736

+PLECchr8

145012860

-
Frame-shiftENST00000262305ENST00000322810RAB11FIP3chr16

532736

+PLECchr8

145012860

-
Frame-shiftENST00000262305ENST00000354958RAB11FIP3chr16

532736

+PLECchr8

145012860

-
Frame-shiftENST00000262305ENST00000356346RAB11FIP3chr16

532736

+PLECchr8

145012860

-
Frame-shiftENST00000262305ENST00000436759RAB11FIP3chr16

532736

+PLECchr8

145012860

-
Frame-shiftENST00000262305ENST00000527096RAB11FIP3chr16

532736

+PLECchr8

145012860

-
Frame-shiftENST00000457159ENST00000345136RAB11FIP3chr16

532736

+PLECchr8

145012860

-
Frame-shiftENST00000457159ENST00000357649RAB11FIP3chr16

532736

+PLECchr8

145012860

-
Frame-shiftENST00000457159ENST00000354589RAB11FIP3chr16

532736

+PLECchr8

145012860

-
Frame-shiftENST00000457159ENST00000398774RAB11FIP3chr16

532736

+PLECchr8

145012860

-
Frame-shiftENST00000457159ENST00000322810RAB11FIP3chr16

532736

+PLECchr8

145012860

-
Frame-shiftENST00000457159ENST00000354958RAB11FIP3chr16

532736

+PLECchr8

145012860

-
Frame-shiftENST00000457159ENST00000356346RAB11FIP3chr16

532736

+PLECchr8

145012860

-
Frame-shiftENST00000457159ENST00000436759RAB11FIP3chr16

532736

+PLECchr8

145012860

-
Frame-shiftENST00000457159ENST00000527096RAB11FIP3chr16

532736

+PLECchr8

145012860

-
Frame-shiftENST00000450428ENST00000345136RAB11FIP3chr16

532736

+PLECchr8

145012860

-
Frame-shiftENST00000450428ENST00000357649RAB11FIP3chr16

532736

+PLECchr8

145012860

-
Frame-shiftENST00000450428ENST00000354589RAB11FIP3chr16

532736

+PLECchr8

145012860

-
Frame-shiftENST00000450428ENST00000398774RAB11FIP3chr16

532736

+PLECchr8

145012860

-
Frame-shiftENST00000450428ENST00000322810RAB11FIP3chr16

532736

+PLECchr8

145012860

-
Frame-shiftENST00000450428ENST00000354958RAB11FIP3chr16

532736

+PLECchr8

145012860

-
Frame-shiftENST00000450428ENST00000356346RAB11FIP3chr16

532736

+PLECchr8

145012860

-
Frame-shiftENST00000450428ENST00000436759RAB11FIP3chr16

532736

+PLECchr8

145012860

-
Frame-shiftENST00000450428ENST00000527096RAB11FIP3chr16

532736

+PLECchr8

145012860

-

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FusionProtFeatures for RAB11FIP3_PLEC


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RAB11FIP3

O75154

PLEC

Q15149


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 RAB11FIP3_PLEC


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 RAB11FIP3_PLEC


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
RAB11FIP3RAB11FIP4, RAB11A, RAB11B, RAB25, TSG101, ARF6, ARF5, ASAP1, ASAP2, ASAP3, ACAP1, ACAP2, TRIM25PLECGRB2, VIM, MAP2, SPTA1, SPTAN1, USP20, PAN2, KCTD13, PLEKHA5, SRRM2, ETS1, TJP1, SIRT7, SP1, ISG15, CUL3, CDK2, LRRK2, ITGB4, JUP, NOMO1, MTDH, TRA2A, HNRNPL, GNAI2, SLTM, UQCRC1, ESR1, TSGA10, FMNL1, VCP, VCAM1, FN1, NOS2, SMAD9, ITGA4, PHB, BAG3, GBF1, NCAPH, CDK9, CCAR2, NCAPG, RABEP1, SMC2, SMC4, RAPGEF2, CUL7, OBSL1, CCDC8, EZH2, SUZ12, EED, BMI1, SOCS6, CCDC68, DDX19B, TFDP3, GFOD1, WHSC1, C17orf85, DDX17, NUP50, QARS, SFN, PTEN, BUB1, CAPZA2, FLNA, MYH9, PPP1CB, NIPSNAP1, IQGAP1, PDLIM7, SYNPO, MAPRE1, PHF8, LIMA1, ANLN, MYO19, MYO18A, GAN, SKI, MCM2, SNW1, CDC5L, ATOH1, CDH1, C6orf141, DFNA5, NEFM, RAPGEF5, MLF1, TKT, UBC, AAK1, PPIP5K2, SEC24B, CCDC88A, EYA4, LUZP1, UBE2D2, NUP88, URGCP, DVL3, QSER1, ARFGAP3, AHNAK, WNK1, CYLD, DLST, PDHA1, CCND2, HEY1, BRCA1, 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 RAB11FIP3_PLEC


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 RAB11FIP3_PLEC


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgenePLECC3150989MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q2CTD_human;ORPHANET;UNIPROT
TgenePLECC0432317Epidermolysis bullosa simplex, Ogna type1CTD_human;ORPHANET;UNIPROT