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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: 33656

FusionGeneSummary for SH3GL1_STAP2

check button Fusion gene summary
Fusion gene informationFusion gene name: SH3GL1_STAP2
Fusion gene ID: 33656
HgeneTgene
Gene symbol

SH3GL1

STAP2

Gene ID

6455

55620

Gene nameSH3 domain containing GRB2 like 1, endophilin A2signal transducing adaptor family member 2
SynonymsCNSA1|EEN|SH3D2B|SH3P8BKS
Cytomap

19p13.3

19p13.3

Type of geneprotein-codingprotein-coding
Descriptionendophilin-A2EEN fusion partner of MLLSH3 domain protein 2BSH3 domain-containing GRB2-like protein 1SH3-containing Grb-2-like 1 proteinSH3-domain GRB2-like 1endophilin-2extra 11-19 leukemia fusionextra eleven-nineteen leukemia fusion gene proteinsignal-transducing adaptor protein 2BRK substratebreast tumor kinase substratebrk kinase substrate
Modification date2018052220180522
UniProtAcc

Q99961

Q9UGK3

Ensembl transtripts involved in fusion geneENST00000269886, ENST00000598564, 
ENST00000417295, 		ENST00000600324, 
ENST00000594605, ENST00000597593, 
Fusion gene scores* DoF score12 X 5 X 10=6006 X 4 X 5=120
# samples 126
** MAII scorelog2(12/600*10)=-2.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(6/120*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SH3GL1 [Title/Abstract] AND STAP2 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationOncogene involved fusion gene, in-frame and retained their domain.
* 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
TCGALDHNSCTCGA-CR-7371-01ASH3GL1chr19

4400321

-STAP2chr19

4334041

-
* 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
In-frameENST00000269886ENST00000600324SH3GL1chr19

4400321

-STAP2chr19

4334041

-
In-frameENST00000269886ENST00000594605SH3GL1chr19

4400321

-STAP2chr19

4334041

-
5CDS-intronENST00000269886ENST00000597593SH3GL1chr19

4400321

-STAP2chr19

4334041

-
In-frameENST00000598564ENST00000600324SH3GL1chr19

4400321

-STAP2chr19

4334041

-
In-frameENST00000598564ENST00000594605SH3GL1chr19

4400321

-STAP2chr19

4334041

-
5CDS-intronENST00000598564ENST00000597593SH3GL1chr19

4400321

-STAP2chr19

4334041

-
In-frameENST00000417295ENST00000600324SH3GL1chr19

4400321

-STAP2chr19

4334041

-
In-frameENST00000417295ENST00000594605SH3GL1chr19

4400321

-STAP2chr19

4334041

-
5CDS-intronENST00000417295ENST00000597593SH3GL1chr19

4400321

-STAP2chr19

4334041

-

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FusionProtFeatures for SH3GL1_STAP2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SH3GL1

Q99961

STAP2

Q9UGK3

Implicated in endocytosis. May recruit other proteins tomembranes with high curvature (By similarity). {ECO:0000250}. Substrate of protein kinase PTK6. May play a regulatoryrole in the acute-phase response in systemic inflammation and maymodulate STAT3 activity. {ECO:0000269|PubMed:10980601}.

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
TgeneSTAP2chr19:4400321chr19:4334041ENST00000594605-013382_40234404Coiled coilOntology_term=ECO:0000255
TgeneSTAP2chr19:4400321chr19:4334041ENST00000600324-013382_40234450Coiled coilOntology_term=ECO:0000255
TgeneSTAP2chr19:4400321chr19:4334041ENST00000594605-013271_35934404Compositional biasNote=Pro-rich
TgeneSTAP2chr19:4400321chr19:4334041ENST00000600324-013271_35934450Compositional biasNote=Pro-rich
TgeneSTAP2chr19:4400321chr19:4334041ENST00000594605-013133_24834404DomainSH2
TgeneSTAP2chr19:4400321chr19:4334041ENST00000600324-013133_24834450DomainSH2

- In-frame and not-retained protein feature among the 13 regional features.
>>>>>>>>>>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSH3GL1chr19:4400321chr19:4334041ENST00000269886-110145_25015369Coiled coilOntology_term=ECO:0000255
HgeneSH3GL1chr19:4400321chr19:4334041ENST00000417295-19145_25015321Coiled coilOntology_term=ECO:0000255
HgeneSH3GL1chr19:4400321chr19:4334041ENST00000598564-110145_25015305Coiled coilOntology_term=ECO:0000255
HgeneSH3GL1chr19:4400321chr19:4334041ENST00000269886-11018_24915369DomainBAR
HgeneSH3GL1chr19:4400321chr19:4334041ENST00000269886-110306_36515369DomainSH3
HgeneSH3GL1chr19:4400321chr19:4334041ENST00000417295-1918_24915321DomainBAR
HgeneSH3GL1chr19:4400321chr19:4334041ENST00000417295-19306_36515321DomainSH3
HgeneSH3GL1chr19:4400321chr19:4334041ENST00000598564-11018_24915305DomainBAR
HgeneSH3GL1chr19:4400321chr19:4334041ENST00000598564-110306_36515305DomainSH3
HgeneSH3GL1chr19:4400321chr19:4334041ENST00000269886-1101_2115369RegionMembrane-binding amphipathic helix
HgeneSH3GL1chr19:4400321chr19:4334041ENST00000269886-11060_8715369RegionRequired for dimerization upon membrane association
HgeneSH3GL1chr19:4400321chr19:4334041ENST00000417295-191_2115321RegionMembrane-binding amphipathic helix
HgeneSH3GL1chr19:4400321chr19:4334041ENST00000417295-1960_8715321RegionRequired for dimerization upon membrane association
HgeneSH3GL1chr19:4400321chr19:4334041ENST00000598564-1101_2115305RegionMembrane-binding amphipathic helix
HgeneSH3GL1chr19:4400321chr19:4334041ENST00000598564-11060_8715305RegionRequired for dimerization upon membrane association
TgeneSTAP2chr19:4400321chr19:4334041ENST00000594605-01318_13034404DomainNote=PH
TgeneSTAP2chr19:4400321chr19:4334041ENST00000600324-01318_13034450DomainNote=PH


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FusionGeneSequence for SH3GL1_STAP2


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 SH3GL1_STAP2


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
SH3GL1SH3GL1, SH2D4A, DPPA4, SH3GL3, DNM1, CREBBP, PRMT1, KHDRBS1, YWHAZ, DPYSL4, SEPT8, SH3GL2, PTPRO, VIM, ITSN2, PDCD6IP, SYNJ1, LRRK2, PML, B3GAT1, AARSD1, ACTR3, ARPC2, FUBP1, RPA1, ACTR2, ANP32B, ARPC1A, ARPC4, ARPC5, ARPC5L, BAG1, CALR, CALU, CRTAP, GTF2E1, GTF2F2, KIAA1279, LAP3, NIF3L1, NSUN2, PFDN1, PFDN5, PRKACA, TRMT10A, SH3GLB2, THG1L, TP53RK, TPRKB, TTC1, SH3GLB1, DNM1L, MTA1, GPKOW, VPS37C, MAL2, FAM102A, AZU1, CCDC101, ARHGAP8, AURKA, EWSR1, NF2, POU5F1, CALM1, CDH1, TPTE2, C8G, GPX7, IMPDH1, FBXO32STAP2PTK6, CBL, PTK2, CSF1R, MYD88, IKBKB, CHUK, MLH1, EGFR, PADI1


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
HgeneSH3GL1chr19:4400321chr19:4334041ENST00000269886-110218_25415369ARC
HgeneSH3GL1chr19:4400321chr19:4334041ENST00000417295-19218_25415321ARC
HgeneSH3GL1chr19:4400321chr19:4334041ENST00000598564-110218_25415305ARC


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for SH3GL1_STAP2


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 SH3GL1_STAP2


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