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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:SNAP25-SNAP25 (FusionGDB2 ID:HG6616TG6616)

Fusion Gene Summary for SNAP25-SNAP25

check button Fusion gene summary
Fusion gene informationFusion gene name: SNAP25-SNAP25
Fusion gene ID: hg6616tg6616
HgeneTgene
Gene symbol

SNAP25

SNAP25

Gene ID

6616

6616

Gene namesynaptosome associated protein 25synaptosome associated protein 25
SynonymsCMS18|RIC-4|RIC4|SEC9|SNAP|SNAP-25|SUP|bA416N4.2|dJ1068F16.2CMS18|RIC-4|RIC4|SEC9|SNAP|SNAP-25|SUP|bA416N4.2|dJ1068F16.2
Cytomap('SNAP25')('SNAP25')

20p12.2

20p12.2

Type of geneprotein-codingprotein-coding
Descriptionsynaptosomal-associated protein 25resistance to inhibitors of cholinesterase 4 homologsynaptosomal-associated protein, 25kDasynaptosome associated protein 25kDasynaptosomal-associated protein 25resistance to inhibitors of cholinesterase 4 homologsynaptosomal-associated protein, 25kDasynaptosome associated protein 25kDa
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000254976, ENST00000304886, 
ENST00000495883, 
ENST00000254976, 
ENST00000304886, ENST00000495883, 
Fusion gene scores* DoF score6 X 7 X 1=427 X 8 X 2=112
# samples 78
** MAII scorelog2(7/42*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(8/112*10)=-0.485426827170242
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SNAP25 [Title/Abstract] AND SNAP25 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointSNAP25(10286966)-SNAP25(10287483), # samples:1
SNAP25(10287786)-SNAP25(10279945), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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 two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS5.0N/AAW898620SNAP25chr20

10286966

-SNAP25chr20

10287483

+
ChiTaRS5.0N/ACD250904SNAP25chr20

10287786

+SNAP25chr20

10279945

+


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Fusion Gene ORF analysis for SNAP25-SNAP25

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-3CDSENST00000254976ENST00000254976SNAP25chr20

10287786

+SNAP25chr20

10279945

+
3UTR-3CDSENST00000254976ENST00000304886SNAP25chr20

10287786

+SNAP25chr20

10279945

+
3UTR-3CDSENST00000304886ENST00000254976SNAP25chr20

10287786

+SNAP25chr20

10279945

+
3UTR-3CDSENST00000304886ENST00000304886SNAP25chr20

10287786

+SNAP25chr20

10279945

+
3UTR-3CDSENST00000495883ENST00000254976SNAP25chr20

10287786

+SNAP25chr20

10279945

+
3UTR-3CDSENST00000495883ENST00000304886SNAP25chr20

10287786

+SNAP25chr20

10279945

+
3UTR-3UTRENST00000254976ENST00000254976SNAP25chr20

10286966

-SNAP25chr20

10287483

+
3UTR-3UTRENST00000254976ENST00000304886SNAP25chr20

10286966

-SNAP25chr20

10287483

+
3UTR-3UTRENST00000254976ENST00000495883SNAP25chr20

10286966

-SNAP25chr20

10287483

+
3UTR-3UTRENST00000254976ENST00000495883SNAP25chr20

10287786

+SNAP25chr20

10279945

+
3UTR-3UTRENST00000304886ENST00000254976SNAP25chr20

10286966

-SNAP25chr20

10287483

+
3UTR-3UTRENST00000304886ENST00000304886SNAP25chr20

10286966

-SNAP25chr20

10287483

+
3UTR-3UTRENST00000304886ENST00000495883SNAP25chr20

10286966

-SNAP25chr20

10287483

+
3UTR-3UTRENST00000304886ENST00000495883SNAP25chr20

10287786

+SNAP25chr20

10279945

+
3UTR-3UTRENST00000495883ENST00000254976SNAP25chr20

10286966

-SNAP25chr20

10287483

+
3UTR-3UTRENST00000495883ENST00000304886SNAP25chr20

10286966

-SNAP25chr20

10287483

+
3UTR-3UTRENST00000495883ENST00000495883SNAP25chr20

10286966

-SNAP25chr20

10287483

+
3UTR-3UTRENST00000495883ENST00000495883SNAP25chr20

10287786

+SNAP25chr20

10279945

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for SNAP25-SNAP25


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)


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Fusion Protein Features for SNAP25-SNAP25


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:10286966/:10287483)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
..
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

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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Fusion Gene Sequence for SNAP25-SNAP25


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for SNAP25-SNAP25


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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Related Drugs for SNAP25-SNAP25


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for SNAP25-SNAP25


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSNAP25C0005586Bipolar Disorder4CTD_human;PSYGENET
HgeneSNAP25C4225364MYASTHENIC SYNDROME, CONGENITAL, 183GENOMICS_ENGLAND;UNIPROT
HgeneSNAP25C0011581Depressive disorder2CTD_human;PSYGENET
HgeneSNAP25C0751884Congenital Myasthenic Syndromes, Presynaptic2CTD_human;ORPHANET
HgeneSNAP25C0002152Alloxan Diabetes1CTD_human
HgeneSNAP25C0005587Depression, Bipolar1CTD_human
HgeneSNAP25C0011570Mental Depression1PSYGENET
HgeneSNAP25C0011573Endogenous depression1CTD_human
HgeneSNAP25C0011853Diabetes Mellitus, Experimental1CTD_human
HgeneSNAP25C0011860Diabetes Mellitus, Non-Insulin-Dependent1CTD_human
HgeneSNAP25C0014544Epilepsy1CTD_human
HgeneSNAP25C0024713Manic Disorder1CTD_human
HgeneSNAP25C0025193Melancholia1CTD_human
HgeneSNAP25C0033958Psychosis, Brief Reactive1CTD_human
HgeneSNAP25C0033975Psychotic Disorders1CTD_human
HgeneSNAP25C0036337Schizoaffective Disorder1CTD_human
HgeneSNAP25C0036358Schizophreniform Disorders1CTD_human
HgeneSNAP25C0038433Streptozotocin Diabetes1CTD_human
HgeneSNAP25C0041696Unipolar Depression1CTD_human
HgeneSNAP25C0086133Depressive Syndrome1CTD_human
HgeneSNAP25C0086237Epilepsy, Cryptogenic1CTD_human
HgeneSNAP25C0236018Aura1CTD_human
HgeneSNAP25C0278076Behavioral tic1CTD_human
HgeneSNAP25C0282126Depression, Neurotic1CTD_human
HgeneSNAP25C0338831Manic1CTD_human
HgeneSNAP25C0751111Awakening Epilepsy1CTD_human
HgeneSNAP25C0751898Tic, Gestural1CTD_human
HgeneSNAP25C0751899Tic, Transient1CTD_human
HgeneSNAP25C0751900Tic, Motor1CTD_human
HgeneSNAP25C0751901Tic, Vocal1CTD_human
HgeneSNAP25C0752251Muscle Disease Manifestations1CTD_human
HgeneSNAP25C0752252Neuromuscular Manifestations1CTD_human
HgeneSNAP25C1535926Neurodevelopmental Disorders1CTD_human
TgeneC0005586Bipolar Disorder4CTD_human;PSYGENET
TgeneC4225364MYASTHENIC SYNDROME, CONGENITAL, 183GENOMICS_ENGLAND;UNIPROT
TgeneC0011581Depressive disorder2CTD_human;PSYGENET
TgeneC0751884Congenital Myasthenic Syndromes, Presynaptic2CTD_human;ORPHANET
TgeneC0002152Alloxan Diabetes1CTD_human
TgeneC0005587Depression, Bipolar1CTD_human
TgeneC0011570Mental Depression1PSYGENET
TgeneC0011573Endogenous depression1CTD_human
TgeneC0011853Diabetes Mellitus, Experimental1CTD_human
TgeneC0011860Diabetes Mellitus, Non-Insulin-Dependent1CTD_human
TgeneC0014544Epilepsy1CTD_human
TgeneC0024713Manic Disorder1CTD_human
TgeneC0025193Melancholia1CTD_human
TgeneC0033958Psychosis, Brief Reactive1CTD_human
TgeneC0033975Psychotic Disorders1CTD_human
TgeneC0036337Schizoaffective Disorder1CTD_human
TgeneC0036358Schizophreniform Disorders1CTD_human
TgeneC0038433Streptozotocin Diabetes1CTD_human
TgeneC0041696Unipolar Depression1CTD_human
TgeneC0086133Depressive Syndrome1CTD_human
TgeneC0086237Epilepsy, Cryptogenic1CTD_human
TgeneC0236018Aura1CTD_human
TgeneC0278076Behavioral tic1CTD_human
TgeneC0282126Depression, Neurotic1CTD_human
TgeneC0338831Manic1CTD_human
TgeneC0751111Awakening Epilepsy1CTD_human
TgeneC0751898Tic, Gestural1CTD_human
TgeneC0751899Tic, Transient1CTD_human
TgeneC0751900Tic, Motor1CTD_human
TgeneC0751901Tic, Vocal1CTD_human
TgeneC0752251Muscle Disease Manifestations1CTD_human
TgeneC0752252Neuromuscular Manifestations1CTD_human
TgeneC1535926Neurodevelopmental Disorders1CTD_human