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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: 33579

FusionGeneSummary for SGMS1_VSTM4

check button Fusion gene summary
Fusion gene informationFusion gene name: SGMS1_VSTM4
Fusion gene ID: 33579
HgeneTgene
Gene symbol

SGMS1

VSTM4

Gene ID

259230

196740

Gene namesphingomyelin synthase 1V-set and transmembrane domain containing 4
SynonymsMOB|MOB1|SMS1|TMEM23|hmob33C10orf72
Cytomap

10q11.23

10q11.23

Type of geneprotein-codingprotein-coding
Descriptionphosphatidylcholine:ceramide cholinephosphotransferase 1medulla oblongata-derived proteinprotein Mobtransmembrane protein 23V-set and transmembrane domain-containing protein 4
Modification date2018052320180523
UniProtAcc

Q86VZ5

Q8IW00

Ensembl transtripts involved in fusion geneENST00000361781, ENST00000429490, 
ENST00000492601, ENST00000361543, 
ENST00000332853, ENST00000298454, 
Fusion gene scores* DoF score7 X 4 X 6=1684 X 3 X 3=36
# samples 74
** MAII scorelog2(7/168*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/36*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: SGMS1 [Title/Abstract] AND VSTM4 [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
HgeneSGMS1

GO:0006686

sphingomyelin biosynthetic process

14685263|14976195

HgeneSGMS1

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
TCGALDPRADTCGA-VP-A87B-01ASGMS1chr10

52193236

-VSTM4chr10

50227820

-
* 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
5UTR-3CDSENST00000361781ENST00000332853SGMS1chr10

52193236

-VSTM4chr10

50227820

-
5UTR-intronENST00000361781ENST00000298454SGMS1chr10

52193236

-VSTM4chr10

50227820

-
intron-3CDSENST00000429490ENST00000332853SGMS1chr10

52193236

-VSTM4chr10

50227820

-
intron-intronENST00000429490ENST00000298454SGMS1chr10

52193236

-VSTM4chr10

50227820

-
intron-3CDSENST00000492601ENST00000332853SGMS1chr10

52193236

-VSTM4chr10

50227820

-
intron-intronENST00000492601ENST00000298454SGMS1chr10

52193236

-VSTM4chr10

50227820

-
intron-3CDSENST00000361543ENST00000332853SGMS1chr10

52193236

-VSTM4chr10

50227820

-
intron-intronENST00000361543ENST00000298454SGMS1chr10

52193236

-VSTM4chr10

50227820

-

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FusionProtFeatures for SGMS1_VSTM4


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SGMS1

Q86VZ5

VSTM4

Q8IW00

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}. Peptide Lv enhances L-type voltage-gated calcium channel(L-VGCC) currents in retinal photoreceptors.{ECO:0000250|UniProtKB:T1NXB5}.

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 SGMS1_VSTM4


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 SGMS1_VSTM4


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
SGMS1ATXN1, STK4, PTAR1, TRIM25VSTM4PPP1CC


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 SGMS1_VSTM4


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 SGMS1_VSTM4


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