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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: 35074

FusionGeneSummary for SNAPIN_S100A1

check button Fusion gene summary
Fusion gene informationFusion gene name: SNAPIN_S100A1
Fusion gene ID: 35074
HgeneTgene
Gene symbol

SNAPIN

S100A1

Gene ID

23557

6271

Gene nameSNAP associated proteinS100 calcium binding protein A1
SynonymsBLOC1S7|BLOS7|BORCS3|SNAPAPS100|S100-alpha|S100A
Cytomap

1q21.3

1q21.3

Type of geneprotein-codingprotein-coding
DescriptionSNARE-associated protein SnapinBLOC-1 subunit 7SNAP-25-binding proteinSNARE associated protein snapinbiogenesis of lysosomal organelles complex-1, subunit 7biogenesis of lysosome-related organelles complex 1 subunit 7synaptosomal-associated protein protein S100-A1S-100 protein alpha chainS-100 protein subunit alphaS100 alphaS100 protein, alpha polypeptide
Modification date2018051920180522
UniProtAcc

O95295

P23297

Ensembl transtripts involved in fusion geneENST00000368685, ENST00000478558, 
ENST00000368698, ENST00000469893, 
ENST00000292169, ENST00000368696, 
Fusion gene scores* DoF score2 X 1 X 2=41 X 1 X 1=1
# samples 21
** MAII scorelog2(2/4*10)=2.32192809488736log2(1/1*10)=3.32192809488736
Context

PubMed: SNAPIN [Title/Abstract] AND S100A1 [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
HgeneSNAPIN

GO:0016079

synaptic vesicle exocytosis

10195194

TgeneS100A1

GO:0051000

positive regulation of nitric-oxide synthase activity

24244340

TgeneS100A1

GO:1903672

positive regulation of sprouting angiogenesis

24244340


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
TCGARVLUADTCGA-64-1678-01ASNAPINchr1

153632042

+S100A1chr1

153604174

+
* 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
Frame-shitENST00000368685ENST00000368698SNAPINchr1

153632042

+S100A1chr1

153604174

+
5CDS-3UTRENST00000368685ENST00000469893SNAPINchr1

153632042

+S100A1chr1

153604174

+
5CDS-3UTRENST00000368685ENST00000292169SNAPINchr1

153632042

+S100A1chr1

153604174

+
5CDS-3UTRENST00000368685ENST00000368696SNAPINchr1

153632042

+S100A1chr1

153604174

+
3UTR-3CDSENST00000478558ENST00000368698SNAPINchr1

153632042

+S100A1chr1

153604174

+
3UTR-3UTRENST00000478558ENST00000469893SNAPINchr1

153632042

+S100A1chr1

153604174

+
3UTR-3UTRENST00000478558ENST00000292169SNAPINchr1

153632042

+S100A1chr1

153604174

+
3UTR-3UTRENST00000478558ENST00000368696SNAPINchr1

153632042

+S100A1chr1

153604174

+

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FusionProtFeatures for SNAPIN_S100A1


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

O95295

S100A1

P23297

Component of the BLOC-1 complex, a complex that isrequired for normal biogenesis of lysosome-related organelles(LRO), such as platelet dense granules and melanosomes. In concertwith the AP-3 complex, the BLOC-1 complex is required to targetmembrane protein cargos into vesicles assembled at cell bodies fordelivery into neurites and nerve terminals. The BLOC-1 complex, inassociation with SNARE proteins, is also proposed to be involvedin neurite extension. Plays a role in intracellular vesicletrafficking and synaptic vesicle recycling. May modulate a stepbetween vesicle priming, fusion and calcium-dependentneurotransmitter release through its ability to potentiate theinteraction of synaptotagmin with the SNAREs and the plasma-membrane-associated protein SNAP25. Its phosphorylation stateinfluences exocytotic protein interactions and may regulatesynaptic vesicle exocytosis. May also have a role in themechanisms of SNARE-mediated membrane fusion in non-neuronal cells(PubMed:17182842, PubMed:18167355). As part of the BORC complexmay play a role in lysosomes movement and localization at the cellperiphery. Associated with the cytosolic face of lysosomes, theBORC complex may recruit ARL8B and couple lysosomes to microtubuleplus-end-directed kinesin motor (PubMed:25898167).{ECO:0000269|PubMed:17182842, ECO:0000269|PubMed:18167355,ECO:0000269|PubMed:25898167}. Probably acts as a Ca(2+) signal transducer(PubMed:22399290). In response to an increase in intracellularCa(2+) levels, binds calcium which triggers a conformationalchange (PubMed:23351007). This conformational change allowsinteraction of S1001A with specific target proteins, such as TPR-containing proteins, and the modulation of their activity(PubMed:22399290). {ECO:0000269|PubMed:22399290,ECO:0000269|PubMed:23351007}.

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 SNAPIN_S100A1


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 SNAPIN_S100A1


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
SNAPINSNAP23, BLOC1S6, DTNBP1, BLOC1S2, BLOC1S3, BLOC1S4, BLOC1S1, TRPV1, RGS7, LAMC1, GPRASP1, KIF5C, SPAG5, EEF1G, HAP1, KAT5, IMMT, KAT7, DDR1, IKBKAP, SNAP25, MAPK14, SPP1, RNF13, TOR1A, COPS4, SMAD2, BNIPL, TEX35, CEP170, TMEM171, CCDC151, C17orf59, BCAS4, HERC2, SCLT1, CEP170P1, TRIM69, EXOC1, KLC1, SCOC, TCP10L, TSKS, COG6, SYBU, IKBIP, TRAK2, TRIML2, MTNR1AS100A1S100P, S100A1, NIF3L1, S100B, S100A4, PYGM, GJA1, ATP2A2, PLB1, ANXA6, PGM1, RYR1, DES, MDM2, PPID, FKBP4, BAG3, S100A2, PLEKHF2


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 SNAPIN_S100A1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneS100A1P23297DB00768OlopatadineProtein S100-A1small moleculeapproved

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RelatedDiseases for SNAPIN_S100A1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneS100A1C0751895Vasospasm, Intracranial1CTD_human