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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: 33574

FusionGeneSummary for SGMS1_GAB2

check button Fusion gene summary
Fusion gene informationFusion gene name: SGMS1_GAB2
Fusion gene ID: 33574
HgeneTgene
Gene symbol

SGMS1

GAB2

Gene ID

259230

9846

Gene namesphingomyelin synthase 1GRB2 associated binding protein 2
SynonymsMOB|MOB1|SMS1|TMEM23|hmob33-
Cytomap

10q11.23

11q14.1

Type of geneprotein-codingprotein-coding
Descriptionphosphatidylcholine:ceramide cholinephosphotransferase 1medulla oblongata-derived proteinprotein Mobtransmembrane protein 23GRB2-associated-binding protein 2Grb2-associated binder 2growth factor receptor bound protein 2-associated protein 2pp100
Modification date2018052320180527
UniProtAcc

Q86VZ5

Q9UQC2

Ensembl transtripts involved in fusion geneENST00000361781, ENST00000429490, 
ENST00000492601, ENST00000361543, 
ENST00000340149, ENST00000361507, 
ENST00000526030, 
Fusion gene scores* DoF score7 X 4 X 6=16811 X 6 X 3=198
# samples 714
** MAII scorelog2(7/168*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(14/198*10)=-0.500073603134643
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SGMS1 [Title/Abstract] AND GAB2 [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

TgeneGAB2

GO:0008284

positive regulation of cell proliferation

19172738


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
TCGARVLUADTCGA-64-1681-01ASGMS1chr10

52086965

-GAB2chr11

77991947

-
* 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-5UTRENST00000361781ENST00000340149SGMS1chr10

52086965

-GAB2chr11

77991947

-
5CDS-5UTRENST00000361781ENST00000361507SGMS1chr10

52086965

-GAB2chr11

77991947

-
5CDS-5UTRENST00000361781ENST00000526030SGMS1chr10

52086965

-GAB2chr11

77991947

-
5CDS-5UTRENST00000429490ENST00000340149SGMS1chr10

52086965

-GAB2chr11

77991947

-
5CDS-5UTRENST00000429490ENST00000361507SGMS1chr10

52086965

-GAB2chr11

77991947

-
5CDS-5UTRENST00000429490ENST00000526030SGMS1chr10

52086965

-GAB2chr11

77991947

-
intron-5UTRENST00000492601ENST00000340149SGMS1chr10

52086965

-GAB2chr11

77991947

-
intron-5UTRENST00000492601ENST00000361507SGMS1chr10

52086965

-GAB2chr11

77991947

-
intron-5UTRENST00000492601ENST00000526030SGMS1chr10

52086965

-GAB2chr11

77991947

-
intron-5UTRENST00000361543ENST00000340149SGMS1chr10

52086965

-GAB2chr11

77991947

-
intron-5UTRENST00000361543ENST00000361507SGMS1chr10

52086965

-GAB2chr11

77991947

-
intron-5UTRENST00000361543ENST00000526030SGMS1chr10

52086965

-GAB2chr11

77991947

-

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FusionProtFeatures for SGMS1_GAB2


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

Q86VZ5

GAB2

Q9UQC2

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}. Adapter protein which acts downstream of severalmembrane receptors including cytokine, antigen, hormone, cellmatrix and growth factor receptors to regulate multiple signalingpathways. Regulates osteoclast differentiation mediating theTNFRSF11A/RANK signaling. In allergic response, it plays a role inmast cells activation and degranulation through PI-3-kinaseregulation. Also involved in the regulation of cell proliferationand hematopoiesis. {ECO:0000269|PubMed:15750601,ECO:0000269|PubMed:19172738}.

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_GAB2


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_GAB2


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, TRIM25GAB2BCR, GRB2, ETV6, ARHGAP32, LYN, PLCG2, PTPN11, SHC1, ZAP70, CD247, LAT, PTPN6, PIK3R1, AKT1, GRAP, SRC, NCK1, PLCG1, CRKL, MET, GRAP2, LRRK1, PIK3R2, CRK, PIK3CB, MAPK1, MAPK3, MARK2, GAB1, GAB2, YWHAE, NTRK1, XPO1, FRS2, TGM4, KCTD3, KIF13B, ZBTB21, KSR1, GIGYF1, LRFN1, DENND1A, SH3PXD2A, SRGAP2, EIF4E2, SIPA1L1, LIMA1, MAGI1, TESK2, DCLK1, ZNF638, SRSF12, RTKN, MAST3, SYDE1, PPM1H, AGAP1, CDC25B, CDK16, FAM110B, USP21, ANKRD34A, FAM53C, CGN, FAM110A, DENND4C, HDAC4, MAPKAP1, TBC1D25, NF1, NADK, CBY1, RAB3IP


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_GAB2


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_GAB2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneGAB2C0025202melanoma1CTD_human
TgeneGAB2C0027626Neoplasm Invasiveness1CTD_human
TgeneGAB2C0027627Neoplasm Metastasis1CTD_human