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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:RAB1A-NRXN1 (FusionGDB2 ID:71203)

Fusion Gene Summary for RAB1A-NRXN1

check button Fusion gene summary
Fusion gene informationFusion gene name: RAB1A-NRXN1
Fusion gene ID: 71203
HgeneTgene
Gene symbol

RAB1A

NRXN1

Gene ID

5861

9378

Gene nameRAB1A, member RAS oncogene familyneurexin 1
SynonymsRAB1|YPT1Hs.22998|PTHSL2|SCZD17
Cytomap

2p14

2p16.3

Type of geneprotein-codingprotein-coding
Descriptionras-related protein Rab-1AGTP binding protein Rab1aRAB1, member RAS oncogene familyRab GTPase YPT1 homologYPT1-related proteinneurexin-1neurexin I
Modification date2020032920200320
UniProtAcc.

Q9ULB1

Ensembl transtripts involved in fusion geneENST00000260638, ENST00000356214, 
ENST00000398529, ENST00000409784, 
ENST00000409751, ENST00000409892, 
ENST00000494188, 
ENST00000331040, 
ENST00000342183, ENST00000401669, 
ENST00000401710, ENST00000402717, 
ENST00000404971, ENST00000405472, 
ENST00000405581, ENST00000406316, 
ENST00000406859, 
Fusion gene scores* DoF score10 X 11 X 4=4408 X 8 X 5=320
# samples 139
** MAII scorelog2(13/440*10)=-1.7589919004962
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/320*10)=-1.83007499855769
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: RAB1A [Title/Abstract] AND NRXN1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointRAB1A(65325104)-NRXN1(51149825), # 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 buttonFusion gene breakpoints across RAB1A (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across NRXN1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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
ChimerDB4BLCATCGA-XF-A8HHRAB1Achr2

65325104

-NRXN1chr2

51149825

-


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Fusion Gene ORF analysis for RAB1A-NRXN1

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-intronENST00000260638ENST00000331040RAB1Achr2

65325104

-NRXN1chr2

51149825

-
5CDS-intronENST00000260638ENST00000342183RAB1Achr2

65325104

-NRXN1chr2

51149825

-
5CDS-intronENST00000260638ENST00000401669RAB1Achr2

65325104

-NRXN1chr2

51149825

-
5CDS-intronENST00000260638ENST00000401710RAB1Achr2

65325104

-NRXN1chr2

51149825

-
5CDS-intronENST00000260638ENST00000402717RAB1Achr2

65325104

-NRXN1chr2

51149825

-
5CDS-intronENST00000260638ENST00000404971RAB1Achr2

65325104

-NRXN1chr2

51149825

-
5CDS-intronENST00000260638ENST00000405472RAB1Achr2

65325104

-NRXN1chr2

51149825

-
5CDS-intronENST00000260638ENST00000405581RAB1Achr2

65325104

-NRXN1chr2

51149825

-
5CDS-intronENST00000260638ENST00000406316RAB1Achr2

65325104

-NRXN1chr2

51149825

-
5CDS-intronENST00000260638ENST00000406859RAB1Achr2

65325104

-NRXN1chr2

51149825

-
5CDS-intronENST00000356214ENST00000331040RAB1Achr2

65325104

-NRXN1chr2

51149825

-
5CDS-intronENST00000356214ENST00000342183RAB1Achr2

65325104

-NRXN1chr2

51149825

-
5CDS-intronENST00000356214ENST00000401669RAB1Achr2

65325104

-NRXN1chr2

51149825

-
5CDS-intronENST00000356214ENST00000401710RAB1Achr2

65325104

-NRXN1chr2

51149825

-
5CDS-intronENST00000356214ENST00000402717RAB1Achr2

65325104

-NRXN1chr2

51149825

-
5CDS-intronENST00000356214ENST00000404971RAB1Achr2

65325104

-NRXN1chr2

51149825

-
5CDS-intronENST00000356214ENST00000405472RAB1Achr2

65325104

-NRXN1chr2

51149825

-
5CDS-intronENST00000356214ENST00000405581RAB1Achr2

65325104

-NRXN1chr2

51149825

-
5CDS-intronENST00000356214ENST00000406316RAB1Achr2

65325104

-NRXN1chr2

51149825

-
5CDS-intronENST00000356214ENST00000406859RAB1Achr2

65325104

-NRXN1chr2

51149825

-
5CDS-intronENST00000398529ENST00000331040RAB1Achr2

65325104

-NRXN1chr2

51149825

-
5CDS-intronENST00000398529ENST00000342183RAB1Achr2

65325104

-NRXN1chr2

51149825

-
5CDS-intronENST00000398529ENST00000401669RAB1Achr2

65325104

-NRXN1chr2

51149825

-
5CDS-intronENST00000398529ENST00000401710RAB1Achr2

65325104

-NRXN1chr2

51149825

-
5CDS-intronENST00000398529ENST00000402717RAB1Achr2

65325104

-NRXN1chr2

51149825

-
5CDS-intronENST00000398529ENST00000404971RAB1Achr2

65325104

-NRXN1chr2

51149825

-
5CDS-intronENST00000398529ENST00000405472RAB1Achr2

65325104

-NRXN1chr2

51149825

-
5CDS-intronENST00000398529ENST00000405581RAB1Achr2

65325104

-NRXN1chr2

51149825

-
5CDS-intronENST00000398529ENST00000406316RAB1Achr2

65325104

-NRXN1chr2

51149825

-
5CDS-intronENST00000398529ENST00000406859RAB1Achr2

65325104

-NRXN1chr2

51149825

-
5CDS-intronENST00000409784ENST00000331040RAB1Achr2

65325104

-NRXN1chr2

51149825

-
5CDS-intronENST00000409784ENST00000342183RAB1Achr2

65325104

-NRXN1chr2

51149825

-
5CDS-intronENST00000409784ENST00000401669RAB1Achr2

65325104

-NRXN1chr2

51149825

-
5CDS-intronENST00000409784ENST00000401710RAB1Achr2

65325104

-NRXN1chr2

51149825

-
5CDS-intronENST00000409784ENST00000402717RAB1Achr2

65325104

-NRXN1chr2

51149825

-
5CDS-intronENST00000409784ENST00000404971RAB1Achr2

65325104

-NRXN1chr2

51149825

-
5CDS-intronENST00000409784ENST00000405472RAB1Achr2

65325104

-NRXN1chr2

51149825

-
5CDS-intronENST00000409784ENST00000405581RAB1Achr2

65325104

-NRXN1chr2

51149825

-
5CDS-intronENST00000409784ENST00000406316RAB1Achr2

65325104

-NRXN1chr2

51149825

-
5CDS-intronENST00000409784ENST00000406859RAB1Achr2

65325104

-NRXN1chr2

51149825

-
intron-intronENST00000409751ENST00000331040RAB1Achr2

65325104

-NRXN1chr2

51149825

-
intron-intronENST00000409751ENST00000342183RAB1Achr2

65325104

-NRXN1chr2

51149825

-
intron-intronENST00000409751ENST00000401669RAB1Achr2

65325104

-NRXN1chr2

51149825

-
intron-intronENST00000409751ENST00000401710RAB1Achr2

65325104

-NRXN1chr2

51149825

-
intron-intronENST00000409751ENST00000402717RAB1Achr2

65325104

-NRXN1chr2

51149825

-
intron-intronENST00000409751ENST00000404971RAB1Achr2

65325104

-NRXN1chr2

51149825

-
intron-intronENST00000409751ENST00000405472RAB1Achr2

65325104

-NRXN1chr2

51149825

-
intron-intronENST00000409751ENST00000405581RAB1Achr2

65325104

-NRXN1chr2

51149825

-
intron-intronENST00000409751ENST00000406316RAB1Achr2

65325104

-NRXN1chr2

51149825

-
intron-intronENST00000409751ENST00000406859RAB1Achr2

65325104

-NRXN1chr2

51149825

-
intron-intronENST00000409892ENST00000331040RAB1Achr2

65325104

-NRXN1chr2

51149825

-
intron-intronENST00000409892ENST00000342183RAB1Achr2

65325104

-NRXN1chr2

51149825

-
intron-intronENST00000409892ENST00000401669RAB1Achr2

65325104

-NRXN1chr2

51149825

-
intron-intronENST00000409892ENST00000401710RAB1Achr2

65325104

-NRXN1chr2

51149825

-
intron-intronENST00000409892ENST00000402717RAB1Achr2

65325104

-NRXN1chr2

51149825

-
intron-intronENST00000409892ENST00000404971RAB1Achr2

65325104

-NRXN1chr2

51149825

-
intron-intronENST00000409892ENST00000405472RAB1Achr2

65325104

-NRXN1chr2

51149825

-
intron-intronENST00000409892ENST00000405581RAB1Achr2

65325104

-NRXN1chr2

51149825

-
intron-intronENST00000409892ENST00000406316RAB1Achr2

65325104

-NRXN1chr2

51149825

-
intron-intronENST00000409892ENST00000406859RAB1Achr2

65325104

-NRXN1chr2

51149825

-
intron-intronENST00000494188ENST00000331040RAB1Achr2

65325104

-NRXN1chr2

51149825

-
intron-intronENST00000494188ENST00000342183RAB1Achr2

65325104

-NRXN1chr2

51149825

-
intron-intronENST00000494188ENST00000401669RAB1Achr2

65325104

-NRXN1chr2

51149825

-
intron-intronENST00000494188ENST00000401710RAB1Achr2

65325104

-NRXN1chr2

51149825

-
intron-intronENST00000494188ENST00000402717RAB1Achr2

65325104

-NRXN1chr2

51149825

-
intron-intronENST00000494188ENST00000404971RAB1Achr2

65325104

-NRXN1chr2

51149825

-
intron-intronENST00000494188ENST00000405472RAB1Achr2

65325104

-NRXN1chr2

51149825

-
intron-intronENST00000494188ENST00000405581RAB1Achr2

65325104

-NRXN1chr2

51149825

-
intron-intronENST00000494188ENST00000406316RAB1Achr2

65325104

-NRXN1chr2

51149825

-
intron-intronENST00000494188ENST00000406859RAB1Achr2

65325104

-NRXN1chr2

51149825

-

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 RAB1A-NRXN1


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)

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.

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.

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Fusion Protein Features for RAB1A-NRXN1


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/:65325104/:51149825)
- 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
.NRXN1

Q9ULB1

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: Cell surface protein involved in cell-cell-interactions, exocytosis of secretory granules and regulation of signal transmission. Function is isoform-specific. Alpha-type isoforms have a long N-terminus with six laminin G-like domains and play an important role in synaptic signal transmission. Alpha-type isoforms play a role in the regulation of calcium channel activity and Ca(2+)-triggered neurotransmitter release at synapses and at neuromuscular junctions. They play an important role in Ca(2+)-triggered exocytosis of secretory granules in pituitary gland. They may effect their functions at synapses and in endocrine cells via their interactions with proteins from the exocytotic machinery. Likewise, alpha-type isoforms play a role in regulating the activity of postsynaptic NMDA receptors, a subtype of glutamate-gated ion channels. Both alpha-type and beta-type isoforms may play a role in the formation or maintenance of synaptic junctions via their calcium-dependent interactions (via the extracellular domains) with neuroligin family members, CBLN1 or CBLN2. In vitro, triggers the de novo formation of presynaptic structures. May be involved in specification of excitatory synapses. Alpha-type isoforms were first identified as receptors for alpha-latrotoxin from spider venom (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 RAB1A-NRXN1


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 RAB1A-NRXN1


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 RAB1A-NRXN1


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 RAB1A-NRXN1


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