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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: 12043

FusionGeneSummary for ERLIN2_RAB11FIP1

check button Fusion gene summary
Fusion gene informationFusion gene name: ERLIN2_RAB11FIP1
Fusion gene ID: 12043
HgeneTgene
Gene symbol

ERLIN2

RAB11FIP1

Gene ID

11160

80223

Gene nameER lipid raft associated 2RAB11 family interacting protein 1
SynonymsC8orf2|Erlin-2|NET32|SPFH2|SPG18NOEL1A|RCP|rab11-FIP1
Cytomap

8p11.23

8p11.23

Type of geneprotein-codingprotein-coding
Descriptionerlin-2SPFH domain family, member 2endoplasmic reticulum lipid raft-associated protein 2spastic paraplegia 18 (autosomal dominant)stomatin-prohibitin-flotillin-HflC/K domain-containing protein 2rab11 family-interacting protein 1RAB11 coupling proteinRAB11 family interacting protein 1 (class I)Rab effector proteinRab-interacting recycling protein
Modification date2018052320180523
UniProtAcc

O94905

Q6WKZ4

Ensembl transtripts involved in fusion geneENST00000397228, ENST00000523887, 
ENST00000276461, ENST00000518586, 
ENST00000335171, ENST00000523107, 
ENST00000519638, 		ENST00000287263, 
ENST00000330843, ENST00000522727, 
ENST00000523182, ENST00000524118, 
Fusion gene scores* DoF score3 X 3 X 1=910 X 7 X 6=420
# samples 312
** MAII scorelog2(3/9*10)=1.73696559416621
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(12/420*10)=-1.8073549220576
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ERLIN2 [Title/Abstract] AND RAB11FIP1 [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
HgeneERLIN2

GO:0030433

ubiquitin-dependent ERAD pathway

19240031

TgeneRAB11FIP1

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
TCGALDBRCATCGA-E9-A1N9-01AERLIN2chr8

37602214

+RAB11FIP1chr8

37735069

-
* 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-shiftENST00000397228ENST00000287263ERLIN2chr8

37602214

+RAB11FIP1chr8

37735069

-
Frame-shiftENST00000397228ENST00000330843ERLIN2chr8

37602214

+RAB11FIP1chr8

37735069

-
5CDS-5UTRENST00000397228ENST00000522727ERLIN2chr8

37602214

+RAB11FIP1chr8

37735069

-
5CDS-intronENST00000397228ENST00000523182ERLIN2chr8

37602214

+RAB11FIP1chr8

37735069

-
5CDS-5UTRENST00000397228ENST00000524118ERLIN2chr8

37602214

+RAB11FIP1chr8

37735069

-
Frame-shiftENST00000523887ENST00000287263ERLIN2chr8

37602214

+RAB11FIP1chr8

37735069

-
Frame-shiftENST00000523887ENST00000330843ERLIN2chr8

37602214

+RAB11FIP1chr8

37735069

-
5CDS-5UTRENST00000523887ENST00000522727ERLIN2chr8

37602214

+RAB11FIP1chr8

37735069

-
5CDS-intronENST00000523887ENST00000523182ERLIN2chr8

37602214

+RAB11FIP1chr8

37735069

-
5CDS-5UTRENST00000523887ENST00000524118ERLIN2chr8

37602214

+RAB11FIP1chr8

37735069

-
Frame-shiftENST00000276461ENST00000287263ERLIN2chr8

37602214

+RAB11FIP1chr8

37735069

-
Frame-shiftENST00000276461ENST00000330843ERLIN2chr8

37602214

+RAB11FIP1chr8

37735069

-
5CDS-5UTRENST00000276461ENST00000522727ERLIN2chr8

37602214

+RAB11FIP1chr8

37735069

-
5CDS-intronENST00000276461ENST00000523182ERLIN2chr8

37602214

+RAB11FIP1chr8

37735069

-
5CDS-5UTRENST00000276461ENST00000524118ERLIN2chr8

37602214

+RAB11FIP1chr8

37735069

-
Frame-shiftENST00000518586ENST00000287263ERLIN2chr8

37602214

+RAB11FIP1chr8

37735069

-
Frame-shiftENST00000518586ENST00000330843ERLIN2chr8

37602214

+RAB11FIP1chr8

37735069

-
5CDS-5UTRENST00000518586ENST00000522727ERLIN2chr8

37602214

+RAB11FIP1chr8

37735069

-
5CDS-intronENST00000518586ENST00000523182ERLIN2chr8

37602214

+RAB11FIP1chr8

37735069

-
5CDS-5UTRENST00000518586ENST00000524118ERLIN2chr8

37602214

+RAB11FIP1chr8

37735069

-
Frame-shiftENST00000335171ENST00000287263ERLIN2chr8

37602214

+RAB11FIP1chr8

37735069

-
Frame-shiftENST00000335171ENST00000330843ERLIN2chr8

37602214

+RAB11FIP1chr8

37735069

-
5CDS-5UTRENST00000335171ENST00000522727ERLIN2chr8

37602214

+RAB11FIP1chr8

37735069

-
5CDS-intronENST00000335171ENST00000523182ERLIN2chr8

37602214

+RAB11FIP1chr8

37735069

-
5CDS-5UTRENST00000335171ENST00000524118ERLIN2chr8

37602214

+RAB11FIP1chr8

37735069

-
Frame-shiftENST00000523107ENST00000287263ERLIN2chr8

37602214

+RAB11FIP1chr8

37735069

-
Frame-shiftENST00000523107ENST00000330843ERLIN2chr8

37602214

+RAB11FIP1chr8

37735069

-
5CDS-5UTRENST00000523107ENST00000522727ERLIN2chr8

37602214

+RAB11FIP1chr8

37735069

-
5CDS-intronENST00000523107ENST00000523182ERLIN2chr8

37602214

+RAB11FIP1chr8

37735069

-
5CDS-5UTRENST00000523107ENST00000524118ERLIN2chr8

37602214

+RAB11FIP1chr8

37735069

-
Frame-shiftENST00000519638ENST00000287263ERLIN2chr8

37602214

+RAB11FIP1chr8

37735069

-
Frame-shiftENST00000519638ENST00000330843ERLIN2chr8

37602214

+RAB11FIP1chr8

37735069

-
5CDS-5UTRENST00000519638ENST00000522727ERLIN2chr8

37602214

+RAB11FIP1chr8

37735069

-
5CDS-intronENST00000519638ENST00000523182ERLIN2chr8

37602214

+RAB11FIP1chr8

37735069

-
5CDS-5UTRENST00000519638ENST00000524118ERLIN2chr8

37602214

+RAB11FIP1chr8

37735069

-

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FusionProtFeatures for ERLIN2_RAB11FIP1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ERLIN2

O94905

RAB11FIP1

Q6WKZ4

Component of the ERLIN1/ERLIN2 complex which mediatesthe endoplasmic reticulum-associated degradation (ERAD) ofinositol 1,4,5-trisphosphate receptors (IP3Rs) such as ITPR1(PubMed:19240031, PubMed:17502376). Promotes sterol-acceleratedERAD of HMGCR probably implicating an AMFR/gp78-containingubiquitin ligase complex (PubMed:21343306). Involved in regulationof cellular cholesterol homeostasis by regulation the SREBPsignaling pathway. May promote ER retention of the SCAP-SREBFcomplex (PubMed:24217618). {ECO:0000269|PubMed:17502376,ECO:0000269|PubMed:19240031, ECO:0000269|PubMed:21343306,ECO:0000269|PubMed:24217618}.

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 ERLIN2_RAB11FIP1


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 ERLIN2_RAB11FIP1


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
ERLIN2RNF185, UBC, ICT1, ITPR1, ERLIN1, AMFR, RNF139, SYVN1, HMGCR, INSIG1, TMUB1, ELAVL1, PSMD2, UFD1L, DERL1, CD3D, TCF3, FBXO6, FLOT1, KRT7, RAB2A, EEF2, FLOT2, HNRNPUL2, PDCD6, MCU, CCT2, FN1, UBL4A, CFTR, MMS19, CLN3, HDAC11, ADRB2, ADRA1D, PPP6R3, STK3, SCAP, PSEN1, NCSTN, APH1A, PSENEN, SREBF1, SREBF2, SRPRB, CASP8, CANX, TCP1, CCDC47, ATP2A2, SEC61B, HSP90B1, HSPA5, HSPA4, CSE1L, TRIM28, HAX1, RHOT1, TIMM50, HNRNPM, TMEM259, DUSP3, TUBB, UBAC2, FAF2, TUBA8, RIC3, ARSK, TUBA1A, FKBP14, GSTM5, AMIGO1, CD109, CACNA2D1, NTRK1, FAP, EWSR1, CEP128, CNTRL, RPGRIP1L, SCLT1, DCTN1, TCTN1, TMEM67, RAB7A, VAPA, GOLT1B, TMEM63B, NF2, RNF170, RNF5, GALNS, TMUB2, STOM, CYLD, COX15, SOAT1, VDAC1, EDEM3RAB11FIP1RAB11A, 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, TRIM25


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 ERLIN2_RAB11FIP1


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 ERLIN2_RAB11FIP1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneERLIN2C3714756Intellectual Disability1CTD_human