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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: 33660

FusionGeneSummary for SH3GL2_SH3GL2

check button Fusion gene summary
Fusion gene informationFusion gene name: SH3GL2_SH3GL2
Fusion gene ID: 33660
HgeneTgene
Gene symbol

SH3GL2

SH3GL2

Gene ID

6456

6456

Gene nameSH3 domain containing GRB2 like 2, endophilin A1SH3 domain containing GRB2 like 2, endophilin A1
SynonymsCNSA2|EEN-B1|SH3D2A|SH3P4CNSA2|EEN-B1|SH3D2A|SH3P4
Cytomap

9p22.2

9p22.2

Type of geneprotein-codingprotein-coding
Descriptionendophilin-A1Endophilin A1 BAR domainSH3 domain protein 2ASH3 domain-containing GRB2-like protein 2SH3-domain GRB2-like 2bA335L15.1 (SH3-domain GRB2-like 2)endophilin-1endophilin-A1Endophilin A1 BAR domainSH3 domain protein 2ASH3 domain-containing GRB2-like protein 2SH3-domain GRB2-like 2bA335L15.1 (SH3-domain GRB2-like 2)endophilin-1
Modification date2018052220180522
UniProtAcc

Q99962

Q99962

Ensembl transtripts involved in fusion geneENST00000380607, ENST00000467085, 
ENST00000537391, 
ENST00000380607, 
ENST00000467085, ENST00000537391, 
Fusion gene scores* DoF score2 X 2 X 2=83 X 3 X 2=18
# samples 23
** MAII scorelog2(2/8*10)=1.32192809488736log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: SH3GL2 [Title/Abstract] AND SH3GL2 [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
ChiTaRS3.1BF934809SH3GL2chr9

17796156

-SH3GL2chr9

17796531

+
* 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
3UTR-3UTRENST00000380607ENST00000380607SH3GL2chr9

17796156

-SH3GL2chr9

17796531

+
3UTR-intronENST00000380607ENST00000467085SH3GL2chr9

17796156

-SH3GL2chr9

17796531

+
3UTR-intronENST00000380607ENST00000537391SH3GL2chr9

17796156

-SH3GL2chr9

17796531

+
intron-3UTRENST00000467085ENST00000380607SH3GL2chr9

17796156

-SH3GL2chr9

17796531

+
intron-intronENST00000467085ENST00000467085SH3GL2chr9

17796156

-SH3GL2chr9

17796531

+
intron-intronENST00000467085ENST00000537391SH3GL2chr9

17796156

-SH3GL2chr9

17796531

+
intron-3UTRENST00000537391ENST00000380607SH3GL2chr9

17796156

-SH3GL2chr9

17796531

+
intron-intronENST00000537391ENST00000467085SH3GL2chr9

17796156

-SH3GL2chr9

17796531

+
intron-intronENST00000537391ENST00000537391SH3GL2chr9

17796156

-SH3GL2chr9

17796531

+

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FusionProtFeatures for SH3GL2_SH3GL2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SH3GL2

Q99962

SH3GL2

Q99962

Implicated in synaptic vesicle endocytosis. May recruitother proteins to membranes with high curvature. Required forBDNF-dependent dendrite outgrowth. Cooperates with SH3GL2 tomediate BDNF-NTRK2 early endocytic trafficking and signaling fromearly endosomes. {ECO:0000250|UniProtKB:Q62420}. Implicated in synaptic vesicle endocytosis. May recruitother proteins to membranes with high curvature. Required forBDNF-dependent dendrite outgrowth. Cooperates with SH3GL2 tomediate BDNF-NTRK2 early endocytic trafficking and signaling fromearly endosomes. {ECO:0000250|UniProtKB:Q62420}.

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 SH3GL2_SH3GL2


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 SH3GL2_SH3GL2


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


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 SH3GL2_SH3GL2


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 SH3GL2_SH3GL2


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