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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:SRGAP3-JAGN1 (FusionGDB2 ID:86390)

Fusion Gene Summary for SRGAP3-JAGN1

check button Fusion gene summary
Fusion gene informationFusion gene name: SRGAP3-JAGN1
Fusion gene ID: 86390
HgeneTgene
Gene symbol

SRGAP3

JAGN1

Gene ID

23380

84522

Gene nameSLIT-ROBO Rho GTPase activating protein 2jagunal homolog 1
SynonymsARHGAP34|FNBP2|SRGAP2A|SRGAP3GL009|SCN6
Cytomap

1q32.1

3p25.3

Type of geneprotein-codingprotein-coding
DescriptionSLIT-ROBO Rho GTPase-activating protein 2SLIT-ROBO GAP2formin-binding protein 2rho GTPase-activating protein 34protein jagunal homolog 1
Modification date2020031320200313
UniProtAcc.

Q8N5M9

Ensembl transtripts involved in fusion geneENST00000360413, ENST00000383836, 
ENST00000433332, 
ENST00000489724, 
ENST00000307768, 
Fusion gene scores* DoF score12 X 10 X 10=12003 X 2 X 3=18
# samples 183
** MAII scorelog2(18/1200*10)=-2.73696559416621
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: SRGAP3 [Title/Abstract] AND JAGN1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointSRGAP3(9290569)-JAGN1(9934599), # 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
HgeneSRGAP3

GO:0043547

positive regulation of GTPase activity

21148482

HgeneSRGAP3

GO:0046847

filopodium assembly

22559944

HgeneSRGAP3

GO:0051014

actin filament severing

21148482

HgeneSRGAP3

GO:0060996

dendritic spine development

22559944

HgeneSRGAP3

GO:2001223

negative regulation of neuron migration

22559944


check buttonFusion gene breakpoints across SRGAP3 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across JAGN1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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
ChimerDB4OVTCGA-24-2288-01ASRGAP3chr3

9290569

-JAGN1chr3

9934599

+


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Fusion Gene ORF analysis for SRGAP3-JAGN1

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-3UTRENST00000360413ENST00000489724SRGAP3chr3

9290569

-JAGN1chr3

9934599

+
5CDS-3UTRENST00000383836ENST00000489724SRGAP3chr3

9290569

-JAGN1chr3

9934599

+
In-frameENST00000360413ENST00000307768SRGAP3chr3

9290569

-JAGN1chr3

9934599

+
In-frameENST00000383836ENST00000307768SRGAP3chr3

9290569

-JAGN1chr3

9934599

+
intron-3CDSENST00000433332ENST00000307768SRGAP3chr3

9290569

-JAGN1chr3

9934599

+
intron-3UTRENST00000433332ENST00000489724SRGAP3chr3

9290569

-JAGN1chr3

9934599

+

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)
ENST00000383836SRGAP3chr39290569-ENST00000307768JAGN1chr39934599+1930495523957144
ENST00000360413SRGAP3chr39290569-ENST00000307768JAGN1chr39934599+1764329357791144

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
ENST00000383836ENST00000307768SRGAP3chr39290569-JAGN1chr39934599+0.329386650.67061335
ENST00000360413ENST00000307768SRGAP3chr39290569-JAGN1chr39934599+0.135433840.86456615

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Fusion Genomic Features for SRGAP3-JAGN1


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)
SRGAP3chr39290568-JAGN1chr39934598+9.14E-050.99990857
SRGAP3chr39290568-JAGN1chr39934598+9.14E-050.99990857

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.
genomic feature

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.
genomic feature of top 1%

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Fusion Protein Features for SRGAP3-JAGN1


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/chr3:9290569/chr3:9934599)
- 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
.JAGN1

Q8N5M9

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: Endoplasmic reticulum transmembrane protein involved in vesicle-mediated transport, which is required for neutrophil function. Required for vesicle-mediated transport; it is however unclear whether it is involved in early secretory pathway or intracellular protein transport. Acts as a regulator of neutrophil function, probably via its role in vesicle-mediated transport: required for defense against fungal pathogens and for granulocyte colony-stimulating factor (GM-CSF) signaling pathway; possibly by regulating glycosylation and/or targeting of proteins contributing to the viability and migration of neutrophils. {ECO:0000269|PubMed:25129144, ECO:0000305}.

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
TgeneJAGN1chr3:9290569chr3:9934599ENST0000030776802118_13729184.0Topological domainLumenal
TgeneJAGN1chr3:9290569chr3:9934599ENST0000030776802159_18329184.0Topological domainCytoplasmic
TgeneJAGN1chr3:9290569chr3:9934599ENST000003077680261_7129184.0Topological domainLumenal
TgeneJAGN1chr3:9290569chr3:9934599ENST000003077680293_9629184.0Topological domainCytoplasmic
TgeneJAGN1chr3:9290569chr3:9934599ENST0000030776802138_15829184.0TransmembraneHelical
TgeneJAGN1chr3:9290569chr3:9934599ENST000003077680240_6029184.0TransmembraneHelical
TgeneJAGN1chr3:9290569chr3:9934599ENST000003077680272_9229184.0TransmembraneHelical
TgeneJAGN1chr3:9290569chr3:9934599ENST000003077680297_11729184.0TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSRGAP3chr3:9290569chr3:9934599ENST00000360413-122352_392221076.0Coiled coilOntology_term=ECO:0000255
HgeneSRGAP3chr3:9290569chr3:9934599ENST00000360413-122952_987221076.0Coiled coilOntology_term=ECO:0000255
HgeneSRGAP3chr3:9290569chr3:9934599ENST00000383836-122352_392221100.0Coiled coilOntology_term=ECO:0000255
HgeneSRGAP3chr3:9290569chr3:9934599ENST00000383836-122952_987221100.0Coiled coilOntology_term=ECO:0000255
HgeneSRGAP3chr3:9290569chr3:9934599ENST00000360413-12219_314221076.0DomainF-BAR
HgeneSRGAP3chr3:9290569chr3:9934599ENST00000360413-122482_670221076.0DomainRho-GAP
HgeneSRGAP3chr3:9290569chr3:9934599ENST00000360413-122744_803221076.0DomainSH3
HgeneSRGAP3chr3:9290569chr3:9934599ENST00000383836-12219_314221100.0DomainF-BAR
HgeneSRGAP3chr3:9290569chr3:9934599ENST00000383836-122482_670221100.0DomainRho-GAP
HgeneSRGAP3chr3:9290569chr3:9934599ENST00000383836-122744_803221100.0DomainSH3
TgeneJAGN1chr3:9290569chr3:9934599ENST00000307768021_3929184.0Topological domainCytoplasmic


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Fusion Gene Sequence for SRGAP3-JAGN1


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.
>86390_86390_1_SRGAP3-JAGN1_SRGAP3_chr3_9290569_ENST00000360413_JAGN1_chr3_9934599_ENST00000307768_length(transcript)=1764nt_BP=329nt
CTGTGCTCCTAGGGTGATTCTTCTTTTGCAAGAGGAGCTGACCAGGGCAAGCTACTAGAGCCATTTCTCGGCAAGTAAAGAGATTTTTCC
TTCCAGAAGGAGAAGGATTTTTCTCCCTGCTCTGCAGCCAAGTGAAAGAGATTAGTCCCTAAACCTGTGAAATCGACCAGAGCTGTGTGA
TTACCAGGGCTTGAGAGAGGACTCGAAAAGAAAAGGAGAAATAAATCAAACAGCCTGTCAGTTCCTTTGGCCACGTCAGAAGATGTCATC
TCAAACTAAGTTCAAGAAAGACAAAGAGATCATTGCTGAATATGAAGCCCAAATAAAAGTGTGACTCTCAAGTATGAAATCAAGAAGCTG
ATCTACGTACATCTGGTCATATGGCTGCTGCTGGTTGCTAAGATGAGCGTGGGACACCTGAGGCTCTTGTCACATGATCAGGTGGCCATG
CCCTATCAGTGGGAATACCCGTATTTGCTGAGCATTTTGCCCTCTCTCTTGGGCCTTCTCTCCTTTCCCCGCAACAACATTAGCTACCTG
GTGCTCTCCATGATCAGCATGGGACTCTTTTCCATCGCTCCACTCATTTATGGCAGCATGGAGATGTTCCCTGCTGCACAGCAGCTCTAC
CGCCATGGCAAGGCCTACCGTTTCCTCTTTGGTTTTTCTGCCGTTTCCATCATGTACCTGGTGTTGGTGTTGGCAGTGCAAGTGCATGCC
TGGCAGTTGTACTACAGCAAGAAGCTCCTAGACTCTTGGTTCACCAGCACACAGGAGAAGAAGCATAAATGAAGCCTCTTTGGGGTGAAG
CCTGGACATCCCATCGAATGAAAGGACACTAGTACAGCGGTTCCAAAATCCCTTCTGGTGATTTTAGCAGCTGTGATGTTGGTACCTGGT
GCAGACCAGGCCAAAGTTCTGGAAAGCTCCTTTTGCCATCTGCTGAGGTGGCAAAACTATAATTTATTCCTGGTTGGCTAGAACTGGGTG
ACCAACAGCTATGAAACAAATTTCAGCTGTTTGAAGTTGAACTTTGAGGTTTTTCTTTAAGAATGAGCTTCGTCCTTGCCTCTACTCGGT
CATTCTCCCCATTTCCATCCATTACCCCTTAGCCATTGAGACTAAAGGAAATAGGGAATAAATCAAATTACTTCATCTCTAGGTCACGGG
TCAGGAAACATTTGGGCAGCTGCTCCCTTGGCAGGCTGTGGTCTCCTCTGCAAAGCATTTTAATTAAAAACCTCAATAAAGATGGCCCTG
CCCACACTGTGCCTTGTGTTTGGGGCTTGATAGAGTGTGAAAGGTGTGTTGCTTGAAAGGTGTGGCCTTAGACACTAGGAGATGATGGGT
AGAAGCTCCTTGAGAAACCTAGCAGTGGCCATAGAGAAGTAGACTGGGTATGGGGAACCTAAGTCATAGTTGTAACCTACAGCTGATTGG
TAAGAACTATGGGCCAGACATTTAATCTCTCCATCTATGAAATAGTCCATTCTCATTTATCTACCTTAGGTTATGGGCTCTTCTTTTAGT
TGGATATTCACATTTATCTTTCAGTGTTAACTGGGTATCAGTTATGAGTCTACTACTGTATAATGGCATCCAAAAGAATTTTAAAGTACC
TCGGTTTATAGGGATTTACAATTCAGTAGAAACTTGTTATTCATGTGAAACAGTGAACATAATATCTAATGATGTGGAGCAAGTACATTA

>86390_86390_1_SRGAP3-JAGN1_SRGAP3_chr3_9290569_ENST00000360413_JAGN1_chr3_9934599_ENST00000307768_length(amino acids)=144AA_BP=
MIYVHLVIWLLLVAKMSVGHLRLLSHDQVAMPYQWEYPYLLSILPSLLGLLSFPRNNISYLVLSMISMGLFSIAPLIYGSMEMFPAAQQL

--------------------------------------------------------------
>86390_86390_2_SRGAP3-JAGN1_SRGAP3_chr3_9290569_ENST00000383836_JAGN1_chr3_9934599_ENST00000307768_length(transcript)=1930nt_BP=495nt
GTGTGTGTGTATGCCTGTGTGCACAGCACAACTGTGTGCGTGTCCCGGTGAGTGTGCCTGTGCATGCGTGAGTGTGTGTACGTGTGCATG
TGTGTGTGAGTGCGCTTGGTTATTACTATTATTATTATTTTTGGAAGAAAAATCTTTGAAAATCTGGGGCAGGTTACTGTGCTCCTAGGG
TGATTCTTCTTTTGCAAGAGGAGCTGACCAGGGCAAGCTACTAGAGCCATTTCTCGGCAAGTAAAGAGATTTTTCCTTCCAGAAGGAGAA
GGATTTTTCTCCCTGCTCTGCAGCCAAGTGAAAGAGATTAGTCCCTAAACCTGTGAAATCGACCAGAGCTGTGTGATTACCAGGGCTTGA
GAGAGGACTCGAAAAGAAAAGGAGAAATAAATCAAACAGCCTGTCAGTTCCTTTGGCCACGTCAGAAGATGTCATCTCAAACTAAGTTCA
AGAAAGACAAAGAGATCATTGCTGAATATGAAGCCCAAATAAAAGTGTGACTCTCAAGTATGAAATCAAGAAGCTGATCTACGTACATCT
GGTCATATGGCTGCTGCTGGTTGCTAAGATGAGCGTGGGACACCTGAGGCTCTTGTCACATGATCAGGTGGCCATGCCCTATCAGTGGGA
ATACCCGTATTTGCTGAGCATTTTGCCCTCTCTCTTGGGCCTTCTCTCCTTTCCCCGCAACAACATTAGCTACCTGGTGCTCTCCATGAT
CAGCATGGGACTCTTTTCCATCGCTCCACTCATTTATGGCAGCATGGAGATGTTCCCTGCTGCACAGCAGCTCTACCGCCATGGCAAGGC
CTACCGTTTCCTCTTTGGTTTTTCTGCCGTTTCCATCATGTACCTGGTGTTGGTGTTGGCAGTGCAAGTGCATGCCTGGCAGTTGTACTA
CAGCAAGAAGCTCCTAGACTCTTGGTTCACCAGCACACAGGAGAAGAAGCATAAATGAAGCCTCTTTGGGGTGAAGCCTGGACATCCCAT
CGAATGAAAGGACACTAGTACAGCGGTTCCAAAATCCCTTCTGGTGATTTTAGCAGCTGTGATGTTGGTACCTGGTGCAGACCAGGCCAA
AGTTCTGGAAAGCTCCTTTTGCCATCTGCTGAGGTGGCAAAACTATAATTTATTCCTGGTTGGCTAGAACTGGGTGACCAACAGCTATGA
AACAAATTTCAGCTGTTTGAAGTTGAACTTTGAGGTTTTTCTTTAAGAATGAGCTTCGTCCTTGCCTCTACTCGGTCATTCTCCCCATTT
CCATCCATTACCCCTTAGCCATTGAGACTAAAGGAAATAGGGAATAAATCAAATTACTTCATCTCTAGGTCACGGGTCAGGAAACATTTG
GGCAGCTGCTCCCTTGGCAGGCTGTGGTCTCCTCTGCAAAGCATTTTAATTAAAAACCTCAATAAAGATGGCCCTGCCCACACTGTGCCT
TGTGTTTGGGGCTTGATAGAGTGTGAAAGGTGTGTTGCTTGAAAGGTGTGGCCTTAGACACTAGGAGATGATGGGTAGAAGCTCCTTGAG
AAACCTAGCAGTGGCCATAGAGAAGTAGACTGGGTATGGGGAACCTAAGTCATAGTTGTAACCTACAGCTGATTGGTAAGAACTATGGGC
CAGACATTTAATCTCTCCATCTATGAAATAGTCCATTCTCATTTATCTACCTTAGGTTATGGGCTCTTCTTTTAGTTGGATATTCACATT
TATCTTTCAGTGTTAACTGGGTATCAGTTATGAGTCTACTACTGTATAATGGCATCCAAAAGAATTTTAAAGTACCTCGGTTTATAGGGA
TTTACAATTCAGTAGAAACTTGTTATTCATGTGAAACAGTGAACATAATATCTAATGATGTGGAGCAAGTACATTAAAAACAGGAAGGAA

>86390_86390_2_SRGAP3-JAGN1_SRGAP3_chr3_9290569_ENST00000383836_JAGN1_chr3_9934599_ENST00000307768_length(amino acids)=144AA_BP=
MIYVHLVIWLLLVAKMSVGHLRLLSHDQVAMPYQWEYPYLLSILPSLLGLLSFPRNNISYLVLSMISMGLFSIAPLIYGSMEMFPAAQQL

--------------------------------------------------------------

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Fusion Gene PPI Analysis for SRGAP3-JAGN1


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 SRGAP3-JAGN1


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 SRGAP3-JAGN1


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