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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: 32798

FusionGeneSummary for SCARB2_SGMS1

check button Fusion gene summary
Fusion gene informationFusion gene name: SCARB2_SGMS1
Fusion gene ID: 32798
HgeneTgene
Gene symbol

SCARB2

SGMS1

Gene ID

950

259230

Gene namescavenger receptor class B member 2sphingomyelin synthase 1
SynonymsAMRF|CD36L2|EPM4|HLGP85|LGP85|LIMP-2|LIMPII|SR-BIIMOB|MOB1|SMS1|TMEM23|hmob33
Cytomap

4q21.1

10q11.23

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 IIphosphatidylcholine:ceramide cholinephosphotransferase 1medulla oblongata-derived proteinprotein Mobtransmembrane protein 23
Modification date2018051920180523
UniProtAcc

Q14108

Q86VZ5

Ensembl transtripts involved in fusion geneENST00000264896, ENST00000452464, 
ENST00000361781, ENST00000429490, 
ENST00000492601, ENST00000361543, 
Fusion gene scores* DoF score11 X 9 X 5=4956 X 4 X 5=120
# samples 116
** MAII scorelog2(11/495*10)=-2.16992500144231
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/120*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SCARB2 [Title/Abstract] AND SGMS1 [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
TgeneSGMS1

GO:0006686

sphingomyelin biosynthetic process

14685263|14976195

TgeneSGMS1

GO:0046513

ceramide biosynthetic process

25605874


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
TCGARVACCTCGA-OR-A5JM-01ASCARB2chr4

77134580

-SGMS1chr10

52104105

-
* 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
5CDS-5UTRENST00000264896ENST00000361781SCARB2chr4

77134580

-SGMS1chr10

52104105

-
5CDS-intronENST00000264896ENST00000429490SCARB2chr4

77134580

-SGMS1chr10

52104105

-
5CDS-5UTRENST00000264896ENST00000492601SCARB2chr4

77134580

-SGMS1chr10

52104105

-
5CDS-intronENST00000264896ENST00000361543SCARB2chr4

77134580

-SGMS1chr10

52104105

-
5CDS-5UTRENST00000452464ENST00000361781SCARB2chr4

77134580

-SGMS1chr10

52104105

-
5CDS-intronENST00000452464ENST00000429490SCARB2chr4

77134580

-SGMS1chr10

52104105

-
5CDS-5UTRENST00000452464ENST00000492601SCARB2chr4

77134580

-SGMS1chr10

52104105

-
5CDS-intronENST00000452464ENST00000361543SCARB2chr4

77134580

-SGMS1chr10

52104105

-

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FusionProtFeatures for SCARB2_SGMS1


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

Q14108

SGMS1

Q86VZ5

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}. Sphingomyelin synthases synthesize the sphingolipid,sphingomyelin, through transfer of the phosphatidyl head group,phosphatidylcholine, on to the primary hydroxyl of ceramide. Thereaction is bidirectional depending on the respective levels ofthe sphingolipid and ceramide. Golgi apparatus SMS1 directly andspecifically recognizes the choline head group on the substrate,requiring two fatty chains on the choline-P donor molecule inorder to be recognized efficiently as a substrate. Major form inmacrophages. Required for cell growth in certain cell types suchas HeLa cells. Suppresses BAX-mediated apoptosis and also preventscell death in response to stimuli such as hydrogen peroxide,osmotic stress, elevated temperature and exogenously suppliedsphingolipids. May protect against cell death by reversing thestress-inducible increase in levels of proapoptotic ceramide.{ECO:0000269|PubMed:14685263, ECO:0000269|PubMed:17449912}.

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_SGMS1


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_SGMS1


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
SCARB2THBS1, ATP6V1B1, NONO, DDX1, HSPD1, TAF15, ATP4A, GEM, LGALS8, NAALADL2, PTPRK, WISP3, NTRK1, SMC6, EIF2AK2, PRPF8, PNKD, MYOF, RHCG, VAMP3, SPAG9, GLMN, RAB27B, SCGB1D1, LMNASGMS1ATXN1, STK4, PTAR1, 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 SCARB2_SGMS1


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_SGMS1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSCARB2C0751779Action Myoclonus-Renal Failure Syndrome1CTD_human;ORPHANET;UNIPROT