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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: 32793

FusionGeneSummary for SCARB2_LAMP2

check button Fusion gene summary
Fusion gene informationFusion gene name: SCARB2_LAMP2
Fusion gene ID: 32793
HgeneTgene
Gene symbol

SCARB2

LAMP2

Gene ID

950

3920

Gene namescavenger receptor class B member 2lysosomal associated membrane protein 2
SynonymsAMRF|CD36L2|EPM4|HLGP85|LGP85|LIMP-2|LIMPII|SR-BIICD107b|LAMP-2|LAMPB|LGP-96|LGP110
Cytomap

4q21.1

Xq24

Type of geneprotein-codingprotein-coding
Descriptionlysosome membrane protein 285 kDa lysosomal membrane sialoglycoprotein85 kDa lysosomal sialoglycoprotein scavenger receptor class B, member 2CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 2 (lysosomal integral membrane protein IIlysosome-associated membrane glycoprotein 2CD107 antigen-like family member B
Modification date2018051920180519
UniProtAcc

Q14108

P13473

Ensembl transtripts involved in fusion geneENST00000264896, ENST00000452464, 
ENST00000434600, ENST00000538785, 
ENST00000200639, ENST00000371335, 
ENST00000540603, 
Fusion gene scores* DoF score11 X 9 X 5=4956 X 6 X 1=36
# samples 116
** MAII scorelog2(11/495*10)=-2.16992500144231
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/36*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: SCARB2 [Title/Abstract] AND LAMP2 [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
ChiTaRS3.1BE890392SCARB2chr4

77080922

-LAMP2chrX

119571799

-
* 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-intronENST00000264896ENST00000434600SCARB2chr4

77080922

-LAMP2chrX

119571799

-
intron-intronENST00000264896ENST00000538785SCARB2chr4

77080922

-LAMP2chrX

119571799

-
intron-intronENST00000264896ENST00000200639SCARB2chr4

77080922

-LAMP2chrX

119571799

-
intron-3UTRENST00000264896ENST00000371335SCARB2chr4

77080922

-LAMP2chrX

119571799

-
intron-intronENST00000264896ENST00000540603SCARB2chr4

77080922

-LAMP2chrX

119571799

-
intron-intronENST00000452464ENST00000434600SCARB2chr4

77080922

-LAMP2chrX

119571799

-
intron-intronENST00000452464ENST00000538785SCARB2chr4

77080922

-LAMP2chrX

119571799

-
intron-intronENST00000452464ENST00000200639SCARB2chr4

77080922

-LAMP2chrX

119571799

-
intron-3UTRENST00000452464ENST00000371335SCARB2chr4

77080922

-LAMP2chrX

119571799

-
intron-intronENST00000452464ENST00000540603SCARB2chr4

77080922

-LAMP2chrX

119571799

-

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FusionProtFeatures for SCARB2_LAMP2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SCARB2

Q14108

LAMP2

P13473

Acts as a lysosomal receptor for glucosylceramidase(GBA) targeting. {ECO:0000269|PubMed:18022370}. (Microbial infection) Acts as a receptor for enterovirus71. {ECO:0000269|PubMed:19543282}. Plays an important role in chaperone-mediated autophagy,a process that mediates lysosomal degradation of proteins inresponse to various stresses and as part of the normal turnover ofproteins with a long biological half-live (PubMed:8662539,PubMed:11082038, PubMed:18644871, PubMed:24880125,PubMed:27628032). Functions by binding target proteins, such asGAPDH and MLLT11, and targeting them for lysosomal degradation(PubMed:8662539, PubMed:11082038, PubMed:18644871,PubMed:24880125). Plays a role in lysosomal protein degradation inresponse to starvation (By similarity). Required for the fusion ofautophagosomes with lysosomes during autophagy (PubMed:27628032).Cells that lack LAMP2 express normal levels of VAMP8, but fail toaccumulate STX17 on autophagosomes, which is the most likelyexplanation for the lack of fusion between autophagosomes andlysosomes (PubMed:27628032). Required for normal degradation ofthe contents of autophagosomes (PubMed:27628032). Required forefficient MHCII-mediated presentation of exogenous antigens viaits function in lysosomal protein degradation; antigenic peptidesgenerated by proteases in the endosomal/lysosomal compartment arecaptured by nascent MHCII subunits (PubMed:20518820). Is notrequired for efficient MHCII-mediated presentation of endogenousantigens (PubMed:20518820). {ECO:0000250|UniProtKB:P17046,ECO:0000269|PubMed:11082038, ECO:0000269|PubMed:18644871,ECO:0000269|PubMed:20518820, ECO:0000269|PubMed:24880125,ECO:0000269|PubMed:27628032, ECO:0000269|PubMed:8662539}. Isoform LAMP-2C: Modulates chaperone-mediated autophagy.Decreases presentation of endogenous antigens by MHCII. Does notplay a role in the presentation of exogenous and membrane-derivedantigens by MHCII. {ECO:0000269|PubMed:26856698}.

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 SCARB2_LAMP2


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 SCARB2_LAMP2


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 SCARB2_LAMP2


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 SCARB2_LAMP2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSCARB2C0751779Action Myoclonus-Renal Failure Syndrome1CTD_human;ORPHANET;UNIPROT
TgeneLAMP2C0038220Status Epilepticus1CTD_human
TgeneLAMP2C0878677Glycogen Storage Disease Type IIb1CTD_human;ORPHANET;UNIPROT