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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:ARHGEF1-RPS19 (FusionGDB2 ID:HG9138TG6223)

Fusion Gene Summary for ARHGEF1-RPS19

check button Fusion gene summary
Fusion gene informationFusion gene name: ARHGEF1-RPS19
Fusion gene ID: hg9138tg6223
HgeneTgene
Gene symbol

ARHGEF1

RPS19

Gene ID

9138

6223

Gene nameRho guanine nucleotide exchange factor 1ribosomal protein S19
SynonymsGEF1|IMD62|LBCL2|LSC|P115-RHOGEF|SUB1.5DBA|DBA1|LOH19CR1|S19|eS19
Cytomap('ARHGEF1')('RPS19')

19q13.2

19q13.2

Type of geneprotein-codingprotein-coding
Descriptionrho guanine nucleotide exchange factor 1115 kDa guanine nucleotide exchange factor115-kD proteinLsc homologRho guanine nucleotide exchange factor (GEF) 1p115RhoGEF40S ribosomal protein S19loss of heterozygosity on chromosome 19, region 1loss of heterozygosity, 19, chromosomal region 1small ribosomal subunit protein eS19
Modification date2020032020200313
UniProtAcc

Q92888

.
Ensembl transtripts involved in fusion geneENST00000337665, ENST00000347545, 
ENST00000354532, ENST00000378152, 
ENST00000599846, ENST00000596957, 
Fusion gene scores* DoF score11 X 9 X 6=5949 X 9 X 4=324
# samples 1210
** MAII scorelog2(12/594*10)=-2.30742852519225
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(10/324*10)=-1.6959938131099
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ARHGEF1 [Title/Abstract] AND RPS19 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointARHGEF1(42397374)-RPS19(42373101), # samples:2
ARHGEF1(42397374)-RPS19(42373100), # samples:2
Anticipated loss of major functional domain due to fusion event.ARHGEF1-RPS19 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
ARHGEF1-RPS19 seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
* 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
TgeneRPS19

GO:0002548

monocyte chemotaxis

11226885

TgeneRPS19

GO:0031640

killing of cells of other organism

15019208

TgeneRPS19

GO:0050829

defense response to Gram-negative bacterium

15019208

TgeneRPS19

GO:0060265

positive regulation of respiratory burst involved in inflammatory response

15750715

TgeneRPS19

GO:0060266

negative regulation of respiratory burst involved in inflammatory response

15750715

TgeneRPS19

GO:0061844

antimicrobial humoral immune response mediated by antimicrobial peptide

15019208



check button Fusion gene information
* 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
ChimerDB4READTCGA-F5-6814-01AARHGEF1chr19

42397374

+RPS19chr19

42373101

+
ChimerDB4READTCGA-F5-6814ARHGEF1chr19

42397374

+RPS19chr19

42367941

+
ChimerDB4READTCGA-F5-6814ARHGEF1chr19

42397374

+RPS19chr19

42373100

+
ChimerDB4READTCGA-F5-6814ARHGEF1chr19

42397374

+RPS19chr19

42373101

+


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Fusion Gene ORF analysis for ARHGEF1-RPS19

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-5UTRENST00000337665ENST00000221975ARHGEF1chr19

42397374

+RPS19chr19

42373101

+
5CDS-5UTRENST00000337665ENST00000221975ARHGEF1chr19

42397374

+RPS19chr19

42373100

+
5CDS-5UTRENST00000337665ENST00000593863ARHGEF1chr19

42397374

+RPS19chr19

42373101

+
5CDS-5UTRENST00000337665ENST00000593863ARHGEF1chr19

42397374

+RPS19chr19

42373100

+
5CDS-5UTRENST00000347545ENST00000221975ARHGEF1chr19

42397374

+RPS19chr19

42373101

+
5CDS-5UTRENST00000347545ENST00000221975ARHGEF1chr19

42397374

+RPS19chr19

42373100

+
5CDS-5UTRENST00000347545ENST00000593863ARHGEF1chr19

42397374

+RPS19chr19

42373101

+
5CDS-5UTRENST00000347545ENST00000593863ARHGEF1chr19

42397374

+RPS19chr19

42373100

+
5CDS-5UTRENST00000354532ENST00000221975ARHGEF1chr19

42397374

+RPS19chr19

42373101

+
5CDS-5UTRENST00000354532ENST00000221975ARHGEF1chr19

42397374

+RPS19chr19

42373100

+
5CDS-5UTRENST00000354532ENST00000593863ARHGEF1chr19

42397374

+RPS19chr19

42373101

+
5CDS-5UTRENST00000354532ENST00000593863ARHGEF1chr19

42397374

+RPS19chr19

42373100

+
5CDS-5UTRENST00000378152ENST00000221975ARHGEF1chr19

42397374

+RPS19chr19

42373101

+
5CDS-5UTRENST00000378152ENST00000221975ARHGEF1chr19

42397374

+RPS19chr19

42373100

+
5CDS-5UTRENST00000378152ENST00000593863ARHGEF1chr19

42397374

+RPS19chr19

42373101

+
5CDS-5UTRENST00000378152ENST00000593863ARHGEF1chr19

42397374

+RPS19chr19

42373100

+
5CDS-5UTRENST00000599846ENST00000221975ARHGEF1chr19

42397374

+RPS19chr19

42373101

+
5CDS-5UTRENST00000599846ENST00000221975ARHGEF1chr19

42397374

+RPS19chr19

42373100

+
5CDS-5UTRENST00000599846ENST00000593863ARHGEF1chr19

42397374

+RPS19chr19

42373101

+
5CDS-5UTRENST00000599846ENST00000593863ARHGEF1chr19

42397374

+RPS19chr19

42373100

+
5CDS-intronENST00000337665ENST00000221975ARHGEF1chr19

42397374

+RPS19chr19

42367941

+
5CDS-intronENST00000337665ENST00000593863ARHGEF1chr19

42397374

+RPS19chr19

42367941

+
5CDS-intronENST00000337665ENST00000598742ARHGEF1chr19

42397374

+RPS19chr19

42367941

+
5CDS-intronENST00000347545ENST00000221975ARHGEF1chr19

42397374

+RPS19chr19

42367941

+
5CDS-intronENST00000347545ENST00000593863ARHGEF1chr19

42397374

+RPS19chr19

42367941

+
5CDS-intronENST00000347545ENST00000598742ARHGEF1chr19

42397374

+RPS19chr19

42367941

+
5CDS-intronENST00000354532ENST00000221975ARHGEF1chr19

42397374

+RPS19chr19

42367941

+
5CDS-intronENST00000354532ENST00000593863ARHGEF1chr19

42397374

+RPS19chr19

42367941

+
5CDS-intronENST00000354532ENST00000598742ARHGEF1chr19

42397374

+RPS19chr19

42367941

+
5CDS-intronENST00000378152ENST00000221975ARHGEF1chr19

42397374

+RPS19chr19

42367941

+
5CDS-intronENST00000378152ENST00000593863ARHGEF1chr19

42397374

+RPS19chr19

42367941

+
5CDS-intronENST00000378152ENST00000598742ARHGEF1chr19

42397374

+RPS19chr19

42367941

+
5CDS-intronENST00000599846ENST00000221975ARHGEF1chr19

42397374

+RPS19chr19

42367941

+
5CDS-intronENST00000599846ENST00000593863ARHGEF1chr19

42397374

+RPS19chr19

42367941

+
5CDS-intronENST00000599846ENST00000598742ARHGEF1chr19

42397374

+RPS19chr19

42367941

+
Frame-shiftENST00000337665ENST00000598742ARHGEF1chr19

42397374

+RPS19chr19

42373101

+
Frame-shiftENST00000337665ENST00000598742ARHGEF1chr19

42397374

+RPS19chr19

42373100

+
Frame-shiftENST00000347545ENST00000598742ARHGEF1chr19

42397374

+RPS19chr19

42373101

+
Frame-shiftENST00000347545ENST00000598742ARHGEF1chr19

42397374

+RPS19chr19

42373100

+
Frame-shiftENST00000354532ENST00000598742ARHGEF1chr19

42397374

+RPS19chr19

42373101

+
Frame-shiftENST00000354532ENST00000598742ARHGEF1chr19

42397374

+RPS19chr19

42373100

+
Frame-shiftENST00000378152ENST00000598742ARHGEF1chr19

42397374

+RPS19chr19

42373101

+
Frame-shiftENST00000378152ENST00000598742ARHGEF1chr19

42397374

+RPS19chr19

42373100

+
Frame-shiftENST00000599846ENST00000598742ARHGEF1chr19

42397374

+RPS19chr19

42373101

+
Frame-shiftENST00000599846ENST00000598742ARHGEF1chr19

42397374

+RPS19chr19

42373100

+
intron-3CDSENST00000596957ENST00000598742ARHGEF1chr19

42397374

+RPS19chr19

42373101

+
intron-3CDSENST00000596957ENST00000598742ARHGEF1chr19

42397374

+RPS19chr19

42373100

+
intron-5UTRENST00000596957ENST00000221975ARHGEF1chr19

42397374

+RPS19chr19

42373101

+
intron-5UTRENST00000596957ENST00000221975ARHGEF1chr19

42397374

+RPS19chr19

42373100

+
intron-5UTRENST00000596957ENST00000593863ARHGEF1chr19

42397374

+RPS19chr19

42373101

+
intron-5UTRENST00000596957ENST00000593863ARHGEF1chr19

42397374

+RPS19chr19

42373100

+
intron-intronENST00000596957ENST00000221975ARHGEF1chr19

42397374

+RPS19chr19

42367941

+
intron-intronENST00000596957ENST00000593863ARHGEF1chr19

42397374

+RPS19chr19

42367941

+
intron-intronENST00000596957ENST00000598742ARHGEF1chr19

42397374

+RPS19chr19

42367941

+

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 ARHGEF1-RPS19


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)
ARHGEF1chr1942397374+RPS19chr1942373100+0.0008262120.9991738
ARHGEF1chr1942397374+RPS19chr1942373100+0.0008262120.9991738
ARHGEF1chr1942397374+RPS19chr1942373100+0.0008262120.9991738
ARHGEF1chr1942397374+RPS19chr1942373100+0.0008262120.9991738


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 ARHGEF1-RPS19


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/:42397374/:42373101)
- 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
ARHGEF1

Q92888

.
FUNCTION: Seems to play a role in the regulation of RhoA GTPase by guanine nucleotide-binding alpha-12 (GNA12) and alpha-13 (GNA13) subunits (PubMed:9641915, PubMed:9641916). Acts as GTPase-activating protein (GAP) for GNA12 and GNA13, and as guanine nucleotide exchange factor (GEF) for RhoA GTPase (PubMed:9641915, PubMed:9641916, PubMed:8810315, PubMed:30521495). Activated G alpha 13/GNA13 stimulates the RhoGEF activity through interaction with the RGS-like domain (PubMed:9641916). This GEF activity is inhibited by binding to activated GNA12 (PubMed:9641916). Mediates angiotensin-2-induced RhoA activation (PubMed:20098430). {ECO:0000269|PubMed:20098430, ECO:0000269|PubMed:30521495, ECO:0000269|PubMed:8810315, ECO:0000269|PubMed:9641915, ECO:0000269|PubMed:9641916}.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 ARHGEF1-RPS19


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 ARHGEF1-RPS19


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 ARHGEF1-RPS19


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 ARHGEF1-RPS19


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC2676137Diamond-Blackfan Anemia 19GENOMICS_ENGLAND;UNIPROT
TgeneC1260899Anemia, Diamond-Blackfan3CTD_human;GENOMICS_ENGLAND
TgeneC0241391Thumb absent2GENOMICS_ENGLAND
TgeneC0241397Triphalangeal thumb2GENOMICS_ENGLAND
TgeneC0431890Hypoplasia of thumb2GENOMICS_ENGLAND
TgeneC2751481Mild radial hypoplasia2GENOMICS_ENGLAND
TgeneC3278811Thumb aplasia2GENOMICS_ENGLAND
TgeneC0024623Malignant neoplasm of stomach1CTD_human
TgeneC0033578Prostatic Neoplasms1CTD_human
TgeneC0038356Stomach Neoplasms1CTD_human
TgeneC0235874Disease Exacerbation1CTD_human
TgeneC0376358Malignant neoplasm of prostate1CTD_human
TgeneC1708349Hereditary Diffuse Gastric Cancer1CTD_human
TgeneC4228778Abnormality of radial ray1GENOMICS_ENGLAND