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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: 36685

FusionGeneSummary for STXBP5_SASH1

check button Fusion gene summary
Fusion gene informationFusion gene name: STXBP5_SASH1
Fusion gene ID: 36685
HgeneTgene
Gene symbol

STXBP5

SASH1

Gene ID

134957

23328

Gene namesyntaxin binding protein 5SAM and SH3 domain containing 1
SynonymsLGL3|LLGL3|Nbla04300SH3D6A|dJ323M4.1
Cytomap

6q24.3

6q24.3-q25.1

Type of geneprotein-codingprotein-coding
Descriptionsyntaxin-binding protein 5lethal(2) giant larvae protein homolog 3putative protein product of Nbla04300tomosyntomosyn-1SAM and SH3 domain-containing protein 1proline-glutamate repeat-containing protein
Modification date2018052320180523
UniProtAcc

Q5T5C0

O94885

Ensembl transtripts involved in fusion geneENST00000546097, ENST00000367481, 
ENST00000367480, ENST00000321680, 
ENST00000179882, 
ENST00000367469, 
ENST00000367467, ENST00000470750, 
Fusion gene scores* DoF score5 X 5 X 3=757 X 6 X 4=168
# samples 67
** MAII scorelog2(6/75*10)=-0.321928094887362
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(7/168*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: STXBP5 [Title/Abstract] AND SASH1 [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
TgeneSASH1

GO:0000209

protein polyubiquitination

23776175

TgeneSASH1

GO:0010595

positive regulation of endothelial cell migration

23776175

TgeneSASH1

GO:1900044

regulation of protein K63-linked ubiquitination

23776175

TgeneSASH1

GO:1902498

regulation of protein autoubiquitination

23776175


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
TCGARVSARCTCGA-QC-A6FX-01ASTXBP5chr6

147560406

+SASH1chr6

148789681

+
* 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
5CDS-intronENST00000546097ENST00000367469STXBP5chr6

147560406

+SASH1chr6

148789681

+
5CDS-intronENST00000546097ENST00000367467STXBP5chr6

147560406

+SASH1chr6

148789681

+
5CDS-3UTRENST00000546097ENST00000470750STXBP5chr6

147560406

+SASH1chr6

148789681

+
5CDS-intronENST00000367481ENST00000367469STXBP5chr6

147560406

+SASH1chr6

148789681

+
5CDS-intronENST00000367481ENST00000367467STXBP5chr6

147560406

+SASH1chr6

148789681

+
5CDS-3UTRENST00000367481ENST00000470750STXBP5chr6

147560406

+SASH1chr6

148789681

+
5CDS-intronENST00000367480ENST00000367469STXBP5chr6

147560406

+SASH1chr6

148789681

+
5CDS-intronENST00000367480ENST00000367467STXBP5chr6

147560406

+SASH1chr6

148789681

+
5CDS-3UTRENST00000367480ENST00000470750STXBP5chr6

147560406

+SASH1chr6

148789681

+
5CDS-intronENST00000321680ENST00000367469STXBP5chr6

147560406

+SASH1chr6

148789681

+
5CDS-intronENST00000321680ENST00000367467STXBP5chr6

147560406

+SASH1chr6

148789681

+
5CDS-3UTRENST00000321680ENST00000470750STXBP5chr6

147560406

+SASH1chr6

148789681

+
5UTR-intronENST00000179882ENST00000367469STXBP5chr6

147560406

+SASH1chr6

148789681

+
5UTR-intronENST00000179882ENST00000367467STXBP5chr6

147560406

+SASH1chr6

148789681

+
5UTR-3UTRENST00000179882ENST00000470750STXBP5chr6

147560406

+SASH1chr6

148789681

+

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FusionProtFeatures for STXBP5_SASH1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
STXBP5

Q5T5C0

SASH1

O94885

Plays a regulatory role in calcium-dependent exocytosisand neurotransmitter release. Inhibits membrane fusion betweentransport vesicles and the plasma membrane. May modulate theassembly of trans-SNARE complexes between transport vesicles andthe plasma membrane. Inhibits translocation of GLUT4 fromintracellular vesicles to the plasma membrane. Competes withSTXBP1 for STX1 binding (By similarity). {ECO:0000250}. May have a role in a signaling pathway. Could act as atumor suppressor.

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 STXBP5_SASH1


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 STXBP5_SASH1


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
STXBP5STX1A, STX4, SNAP23, ARRB1, VTI1B, STX6, SNAP29, STX7, STX12, STX3, STX19, STX11SASH1SFN, SUV39H2, KHDRBS1, SKIL, IRAK1, IRAK4, MYD88, MAP3K7, IKBKB, CHUK, IKBKG, ESR1


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 STXBP5_SASH1


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 STXBP5_SASH1


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