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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: 33636

FusionGeneSummary for SH3BP4_SH3BP4

check button Fusion gene summary
Fusion gene informationFusion gene name: SH3BP4_SH3BP4
Fusion gene ID: 33636
HgeneTgene
Gene symbol

SH3BP4

SH3BP4

Gene ID

23677

23677

Gene nameSH3 domain binding protein 4SH3 domain binding protein 4
SynonymsBOG25|TTPBOG25|TTP
Cytomap

2q37.2

2q37.2

Type of geneprotein-codingprotein-coding
DescriptionSH3 domain-binding protein 4EH-binding protein 10transferrin receptor-trafficking proteinSH3 domain-binding protein 4EH-binding protein 10transferrin receptor-trafficking protein
Modification date2018052320180523
UniProtAcc

Q9P0V3

Q9P0V3

Ensembl transtripts involved in fusion geneENST00000392011, ENST00000409212, 
ENST00000344528, ENST00000489601, 
ENST00000392011, ENST00000409212, 
ENST00000344528, ENST00000489601, 
Fusion gene scores* DoF score6 X 6 X 5=1804 X 6 X 3=72
# samples 75
** MAII scorelog2(7/180*10)=-1.36257007938471
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(5/72*10)=-0.526068811667588
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SH3BP4 [Title/Abstract] AND SH3BP4 [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
HgeneSH3BP4

GO:0034260

negative regulation of GTPase activity

22575674

TgeneSH3BP4

GO:0034260

negative regulation of GTPase activity

22575674


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
ChiTaRS3.1T56440SH3BP4chr2

235928329

-SH3BP4chr2

235931943

-
ChiTaRS3.1AA493349SH3BP4chr2

235963223

+SH3BP4chr2

235963267

-
* 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-intronENST00000392011ENST00000392011SH3BP4chr2

235928329

-SH3BP4chr2

235931943

-
intron-intronENST00000392011ENST00000409212SH3BP4chr2

235928329

-SH3BP4chr2

235931943

-
intron-intronENST00000392011ENST00000344528SH3BP4chr2

235928329

-SH3BP4chr2

235931943

-
intron-intronENST00000392011ENST00000489601SH3BP4chr2

235928329

-SH3BP4chr2

235931943

-
intron-intronENST00000409212ENST00000392011SH3BP4chr2

235928329

-SH3BP4chr2

235931943

-
intron-intronENST00000409212ENST00000409212SH3BP4chr2

235928329

-SH3BP4chr2

235931943

-
intron-intronENST00000409212ENST00000344528SH3BP4chr2

235928329

-SH3BP4chr2

235931943

-
intron-intronENST00000409212ENST00000489601SH3BP4chr2

235928329

-SH3BP4chr2

235931943

-
intron-intronENST00000344528ENST00000392011SH3BP4chr2

235928329

-SH3BP4chr2

235931943

-
intron-intronENST00000344528ENST00000409212SH3BP4chr2

235928329

-SH3BP4chr2

235931943

-
intron-intronENST00000344528ENST00000344528SH3BP4chr2

235928329

-SH3BP4chr2

235931943

-
intron-intronENST00000344528ENST00000489601SH3BP4chr2

235928329

-SH3BP4chr2

235931943

-
intron-intronENST00000489601ENST00000392011SH3BP4chr2

235928329

-SH3BP4chr2

235931943

-
intron-intronENST00000489601ENST00000409212SH3BP4chr2

235928329

-SH3BP4chr2

235931943

-
intron-intronENST00000489601ENST00000344528SH3BP4chr2

235928329

-SH3BP4chr2

235931943

-
intron-intronENST00000489601ENST00000489601SH3BP4chr2

235928329

-SH3BP4chr2

235931943

-
3UTR-3UTRENST00000392011ENST00000392011SH3BP4chr2

235963223

+SH3BP4chr2

235963267

-
3UTR-3UTRENST00000392011ENST00000409212SH3BP4chr2

235963223

+SH3BP4chr2

235963267

-
3UTR-3UTRENST00000392011ENST00000344528SH3BP4chr2

235963223

+SH3BP4chr2

235963267

-
3UTR-intronENST00000392011ENST00000489601SH3BP4chr2

235963223

+SH3BP4chr2

235963267

-
3UTR-3UTRENST00000409212ENST00000392011SH3BP4chr2

235963223

+SH3BP4chr2

235963267

-
3UTR-3UTRENST00000409212ENST00000409212SH3BP4chr2

235963223

+SH3BP4chr2

235963267

-
3UTR-3UTRENST00000409212ENST00000344528SH3BP4chr2

235963223

+SH3BP4chr2

235963267

-
3UTR-intronENST00000409212ENST00000489601SH3BP4chr2

235963223

+SH3BP4chr2

235963267

-
3UTR-3UTRENST00000344528ENST00000392011SH3BP4chr2

235963223

+SH3BP4chr2

235963267

-
3UTR-3UTRENST00000344528ENST00000409212SH3BP4chr2

235963223

+SH3BP4chr2

235963267

-
3UTR-3UTRENST00000344528ENST00000344528SH3BP4chr2

235963223

+SH3BP4chr2

235963267

-
3UTR-intronENST00000344528ENST00000489601SH3BP4chr2

235963223

+SH3BP4chr2

235963267

-
intron-3UTRENST00000489601ENST00000392011SH3BP4chr2

235963223

+SH3BP4chr2

235963267

-
intron-3UTRENST00000489601ENST00000409212SH3BP4chr2

235963223

+SH3BP4chr2

235963267

-
intron-3UTRENST00000489601ENST00000344528SH3BP4chr2

235963223

+SH3BP4chr2

235963267

-
intron-intronENST00000489601ENST00000489601SH3BP4chr2

235963223

+SH3BP4chr2

235963267

-

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FusionProtFeatures for SH3BP4_SH3BP4


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SH3BP4

Q9P0V3

SH3BP4

Q9P0V3

May function in transferrin receptor internalization atthe plasma membrane through a cargo-specific control of clathrin-mediated endocytosis. Alternatively, may act as a negativeregulator of the amino acid-induced TOR signaling by inhibitingthe formation of active Rag GTPase complexes. Preferentially bindsinactive Rag GTPase complexes and prevents their interaction withthe mTORC1 complex inhibiting its relocalization to lysosomes andits activation. Thereby, may indirectly regulate cell growth,proliferation and autophagy. {ECO:0000269|PubMed:16325581,ECO:0000269|PubMed:22575674}. May function in transferrin receptor internalization atthe plasma membrane through a cargo-specific control of clathrin-mediated endocytosis. Alternatively, may act as a negativeregulator of the amino acid-induced TOR signaling by inhibitingthe formation of active Rag GTPase complexes. Preferentially bindsinactive Rag GTPase complexes and prevents their interaction withthe mTORC1 complex inhibiting its relocalization to lysosomes andits activation. Thereby, may indirectly regulate cell growth,proliferation and autophagy. {ECO:0000269|PubMed:16325581,ECO:0000269|PubMed:22575674}.

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 SH3BP4_SH3BP4


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 SH3BP4_SH3BP4


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 SH3BP4_SH3BP4


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 SH3BP4_SH3BP4


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