![]() |
||||||
|
![]() | |
![]() | |
![]() | |
![]() | |
![]() | |
![]() |
Fusion gene ID: 32698 |
FusionGeneSummary for SBF2_EXT2 |
![]() |
Fusion gene information | Fusion gene name: SBF2_EXT2 | Fusion gene ID: 32698 | Hgene | Tgene | Gene symbol | SBF2 | EXT2 | Gene ID | 81846 | 2132 |
Gene name | SET binding factor 2 | exostosin glycosyltransferase 2 | |
Synonyms | CMT4B2|DENND7B|MTMR13 | SOTV|SSMS | |
Cytomap | 11p15.4 | 11p11.2 | |
Type of gene | protein-coding | protein-coding | |
Description | myotubularin-related protein 13DENN/MADD domain containing 7B | exostosin-2N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferaseglucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferasemultiple exostoses protein 2multiple exostosis 2putativ | |
Modification date | 20180519 | 20180522 | |
UniProtAcc | Q86WG5 | Q93063 | |
Ensembl transtripts involved in fusion gene | ENST00000256190, ENST00000527019, | ENST00000533608, ENST00000358681, ENST00000395673, ENST00000343631, ENST00000529186, | |
Fusion gene scores | * DoF score | 16 X 9 X 8=1152 | 5 X 5 X 3=75 |
# samples | 16 | 5 | |
** MAII score | log2(16/1152*10)=-2.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/75*10)=-0.584962500721156 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: SBF2 [Title/Abstract] AND EXT2 [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) |
![]() |
Partner | Gene | GO ID | GO term | PubMed ID |
Tgene | EXT2 | GO:0006024 | glycosaminoglycan biosynthetic process | 12907669 |
Tgene | EXT2 | GO:0033692 | cellular polysaccharide biosynthetic process | 12907669 |
![]() (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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChiTaRS3.1 | T17444 | SBF2 | chr11 | 10061662 | + | EXT2 | chr11 | 44266974 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
intron-intron | ENST00000256190 | ENST00000533608 | SBF2 | chr11 | 10061662 | + | EXT2 | chr11 | 44266974 | - |
intron-intron | ENST00000256190 | ENST00000358681 | SBF2 | chr11 | 10061662 | + | EXT2 | chr11 | 44266974 | - |
intron-intron | ENST00000256190 | ENST00000395673 | SBF2 | chr11 | 10061662 | + | EXT2 | chr11 | 44266974 | - |
intron-intron | ENST00000256190 | ENST00000343631 | SBF2 | chr11 | 10061662 | + | EXT2 | chr11 | 44266974 | - |
intron-intron | ENST00000256190 | ENST00000529186 | SBF2 | chr11 | 10061662 | + | EXT2 | chr11 | 44266974 | - |
intron-intron | ENST00000527019 | ENST00000533608 | SBF2 | chr11 | 10061662 | + | EXT2 | chr11 | 44266974 | - |
intron-intron | ENST00000527019 | ENST00000358681 | SBF2 | chr11 | 10061662 | + | EXT2 | chr11 | 44266974 | - |
intron-intron | ENST00000527019 | ENST00000395673 | SBF2 | chr11 | 10061662 | + | EXT2 | chr11 | 44266974 | - |
intron-intron | ENST00000527019 | ENST00000343631 | SBF2 | chr11 | 10061662 | + | EXT2 | chr11 | 44266974 | - |
intron-intron | ENST00000527019 | ENST00000529186 | SBF2 | chr11 | 10061662 | + | EXT2 | chr11 | 44266974 | - |
Top |
FusionProtFeatures for SBF2_EXT2 |
![]() |
Hgene | Tgene |
SBF2 | EXT2 |
Glycosyltransferase required for the biosynthesis ofheparan-sulfate. The EXT1/EXT2 complex possesses substantiallyhigher glycosyltransferase activity than EXT1 or EXT2 alone.Appears to be a tumor suppressor. Required for the exosomalrelease of SDCBP, CD63 and syndecan (PubMed:22660413).{ECO:0000269|PubMed:22660413}. |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
Top |
FusionGeneSequence for SBF2_EXT2 |
![]() (nt: nucleotides, aa: amino acids) |
* Fusion amino acid sequences. |
* Fusion transcript sequences (only coding sequence (CDS) region). |
* Fusion transcript sequences (Full-length transcript). |
Top |
FusionGenePPI for SBF2_EXT2 |
![]() |
![]() |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
Top |
RelatedDrugs for SBF2_EXT2 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
RelatedDiseases for SBF2_EXT2 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | EXT2 | C1851413 | EXOSTOSES, MULTIPLE, TYPE II | 9 | CTD_human;UNIPROT |
Tgene | EXT2 | C0015306 | Hereditary Multiple Exostoses | 1 | CTD_human;HPO;ORPHANET |
Tgene | EXT2 | C4225248 | SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME | 1 | ORPHANET;UNIPROT |