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Center for Computational Systems Medicine
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FusionGeneSummary

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Fusion gene ID: 36971

FusionGeneSummary for SYT12_SH3GLB1

check button Fusion gene summary
Fusion gene informationFusion gene name: SYT12_SH3GLB1
Fusion gene ID: 36971
HgeneTgene
Gene symbol

SYT12

SH3GLB1

Gene ID

91683

51100

Gene namesynaptotagmin 12SH3 domain containing GRB2 like, endophilin B1
SynonymsSYT11|sytXIIBif-1|CGI-61|PPP1R70|dJ612B15.2
Cytomap

11q13.2

1p22.3

Type of geneprotein-codingprotein-coding
Descriptionsynaptotagmin-12synaptotagmin-XIIendophilin-B1Bax-interacting factor 1SH3 domain-containing GRB2-like protein B1SH3-containing protein SH3GLB1SH3-domain GRB2 like endophilin B1protein phosphatase 1, regulatory subunit 70testicular tissue protein Li 172
Modification date2018052320180522
UniProtAcc

Q8IV01

Q9Y371

Ensembl transtripts involved in fusion geneENST00000393946, ENST00000525457, 
ENST00000527043, ENST00000526281, 
ENST00000370558, ENST00000535010, 
ENST00000482504, 
Fusion gene scores* DoF score2 X 2 X 2=83 X 3 X 2=18
# samples 34
** MAII scorelog2(3/8*10)=1.90689059560852log2(4/18*10)=1.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: SYT12 [Title/Abstract] AND SH3GLB1 [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
TgeneSH3GLB1

GO:0032461

positive regulation of protein oligomerization

19074440

TgeneSH3GLB1

GO:0051259

protein complex oligomerization

19805544


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
ChiTaRS3.1BF995061SYT12chr11

66802087

-SH3GLB1chr1

87210438

-
ChiTaRS3.1BF995206SYT12chr11

66802087

-SH3GLB1chr1

87210438

-
* 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-3UTRENST00000393946ENST00000370558SYT12chr11

66802087

-SH3GLB1chr1

87210438

-
intron-intronENST00000393946ENST00000535010SYT12chr11

66802087

-SH3GLB1chr1

87210438

-
intron-intronENST00000393946ENST00000482504SYT12chr11

66802087

-SH3GLB1chr1

87210438

-
intron-3UTRENST00000525457ENST00000370558SYT12chr11

66802087

-SH3GLB1chr1

87210438

-
intron-intronENST00000525457ENST00000535010SYT12chr11

66802087

-SH3GLB1chr1

87210438

-
intron-intronENST00000525457ENST00000482504SYT12chr11

66802087

-SH3GLB1chr1

87210438

-
intron-3UTRENST00000527043ENST00000370558SYT12chr11

66802087

-SH3GLB1chr1

87210438

-
intron-intronENST00000527043ENST00000535010SYT12chr11

66802087

-SH3GLB1chr1

87210438

-
intron-intronENST00000527043ENST00000482504SYT12chr11

66802087

-SH3GLB1chr1

87210438

-
intron-3UTRENST00000526281ENST00000370558SYT12chr11

66802087

-SH3GLB1chr1

87210438

-
intron-intronENST00000526281ENST00000535010SYT12chr11

66802087

-SH3GLB1chr1

87210438

-
intron-intronENST00000526281ENST00000482504SYT12chr11

66802087

-SH3GLB1chr1

87210438

-

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FusionProtFeatures for SYT12_SH3GLB1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SYT12

Q8IV01

SH3GLB1

Q9Y371