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Center for Computational Systems Medicine
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FusionGeneSummary

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Fusion gene ID: 4925

FusionGeneSummary for C2CD2_SH3BGRL

check button Fusion gene summary
Fusion gene informationFusion gene name: C2CD2_SH3BGRL
Fusion gene ID: 4925
HgeneTgene
Gene symbol

C2CD2

SH3BGRL

Gene ID

25966

6451

Gene nameC2 calcium dependent domain containing 2SH3 domain binding glutamate rich protein like
SynonymsC21orf25|C21orf258|TMEM24LHEL-S-115|SH3BGR
Cytomap

21q22.3

Xq21.1

Type of geneprotein-codingprotein-coding
DescriptionC2 domain-containing protein 2TMEM24 related gemetransmembrane protein 24-likeSH3 domain-binding glutamic acid-rich-like proteinSH3 domain binding glutamic acid-rich protein likeSH3-binding domain glutamic acid-rich protein likeepididymis secretory protein Li 115
Modification date2018051920180522
UniProtAcc

Q9Y426

O75368

Ensembl transtripts involved in fusion geneENST00000329623, ENST00000380486, 
ENST00000478372, 
ENST00000373212, 
ENST00000481106, 
Fusion gene scores* DoF score4 X 4 X 4=643 X 2 X 3=18
# samples 43
** MAII scorelog2(4/64*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: C2CD2 [Title/Abstract] AND SH3BGRL [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

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
TCGARVUCSTCGA-ND-A4W6-01AC2CD2chr21

43362256

-SH3BGRLchrX

80532483

+
* 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-3CDSENST00000329623ENST00000373212C2CD2chr21

43362256

-SH3BGRLchrX

80532483

+
intron-3UTRENST00000329623ENST00000481106C2CD2chr21

43362256

-SH3BGRLchrX

80532483

+
In-frameENST00000380486ENST00000373212C2CD2chr21

43362256

-SH3BGRLchrX

80532483

+
5CDS-3UTRENST00000380486ENST00000481106C2CD2chr21

43362256

-SH3BGRLchrX

80532483

+
intron-3CDSENST00000478372ENST00000373212C2CD2chr21

43362256

-SH3BGRLchrX

80532483

+
intron-3UTRENST00000478372ENST00000481106C2CD2chr21

43362256

-SH3BGRLchrX

80532483

+

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FusionProtFeatures for C2CD2_SH3BGRL


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
C2CD2

Q9Y426

SH3BGRL

O75368