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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:ARHGEF12-POU2F3 (FusionGDB2 ID:6327)

Fusion Gene Summary for ARHGEF12-POU2F3

check button Fusion gene summary
Fusion gene informationFusion gene name: ARHGEF12-POU2F3
Fusion gene ID: 6327
HgeneTgene
Gene symbol

ARHGEF12

POU2F3

Gene ID

23365

25833

Gene nameRho guanine nucleotide exchange factor 12POU class 2 homeobox 3
SynonymsLARG|PRO2792Epoc-1|OCT-11|OCT11|OTF-11|PLA-1|PLA1|Skn-1a
Cytomap

11q23.3

11q23.3

Type of geneprotein-codingprotein-coding
Descriptionrho guanine nucleotide exchange factor 12Rho guanine nucleotide exchange factor (GEF) 12leukemia-associated RhoGEFleukemia-associated rho guanine nucleotide exchange factorPOU domain, class 2, transcription factor 3POU domain transcription factor OCT11aoctamer-binding protein 11octamer-binding transcription factor 11transcription factor PLA-1transcription factor Skn-1
Modification date2020031320200313
UniProtAcc

Q9NZN5

.
Ensembl transtripts involved in fusion geneENST00000397843, ENST00000356641, 
ENST00000532993, 		ENST00000260264, 
ENST00000543440, 
Fusion gene scores* DoF score16 X 13 X 9=18724 X 6 X 4=96
# samples 218
** MAII scorelog2(21/1872*10)=-3.15611920191728
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(8/96*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ARHGEF12 [Title/Abstract] AND POU2F3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointARHGEF12(120207984)-POU2F3(120168974), # samples:2
ARHGEF12(120207984)-POU2F3(120186070), # samples:2
ARHGEF12(120207984)-POU2F3(120139919), # samples:2
POU2F3(120178324)-ARHGEF12(120343758), # samples:1
Anticipated loss of major functional domain due to fusion event.ARHGEF12-POU2F3 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
ARHGEF12-POU2F3 seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF.
ARHGEF12-POU2F3 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
ARHGEF12-POU2F3 seems lost the major protein functional domain in Tgene partner, which is a transcription factor due to the frame-shifted ORF.
ARHGEF12-POU2F3 seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor 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
HgeneARHGEF12

GO:0007186

G protein-coupled receptor signaling pathway

15755723

TgenePOU2F3

GO:0043922

negative regulation by host of viral transcription

14645924

TgenePOU2F3

GO:0045944

positive regulation of transcription by RNA polymerase II

12624109


check buttonFusion gene breakpoints across ARHGEF12 (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 POU2F3 (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
ChimerDB4STADTCGA-BR-A452ARHGEF12chr11

120207984

+POU2F3chr11

120139918

+
ChimerDB4STADTCGA-BR-A452ARHGEF12chr11

120207984

+POU2F3chr11

120168973

+
ChimerDB4BRCATCGA-BH-A18T-01AARHGEF12chr11

120207984

+POU2F3chr11

120168974

+
ChimerDB4STADTCGA-CG-4438-01AARHGEF12chr11

120207984

+POU2F3chr11

120186070

+
ChimerDB4STADTCGA-BR-A452-01AARHGEF12chr11

120207984

+POU2F3chr11

120139919

+
ChimerDB4STADTCGA-BR-A452-01AARHGEF12chr11

120207984

+POU2F3chr11

120168974

+
ChimerDB4STADTCGA-BR-A452-01AARHGEF12chr11

120207984

-POU2F3chr11

120139919

+
ChimerDB4STADTCGA-CG-4438-01AARHGEF12chr11

120207984

-POU2F3chr11

120186070

+


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Fusion Gene ORF analysis for ARHGEF12-POU2F3

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-shiftENST00000397843ENST00000260264ARHGEF12chr11

120207984

+POU2F3chr11

120139918

+
Frame-shiftENST00000397843ENST00000543440ARHGEF12chr11

120207984

+POU2F3chr11

120139918

+
Frame-shiftENST00000356641ENST00000260264ARHGEF12chr11

120207984

+POU2F3chr11

120139918

+
Frame-shiftENST00000356641ENST00000543440ARHGEF12chr11

120207984

+POU2F3chr11

120139918

+
intron-3CDSENST00000532993ENST00000260264ARHGEF12chr11

120207984

+POU2F3chr11

120139918

+
intron-3CDSENST00000532993ENST00000543440ARHGEF12chr11

120207984

+POU2F3chr11

120139918

+
Frame-shiftENST00000397843ENST00000260264ARHGEF12chr11

120207984

+POU2F3chr11

120168973

+
Frame-shiftENST00000397843ENST00000543440ARHGEF12chr11

120207984

+POU2F3chr11

120168973

+
Frame-shiftENST00000356641ENST00000260264ARHGEF12chr11

120207984

+POU2F3chr11

120168973

+
Frame-shiftENST00000356641ENST00000543440ARHGEF12chr11

120207984

+POU2F3chr11

120168973

+
intron-3CDSENST00000532993ENST00000260264ARHGEF12chr11

120207984

+POU2F3chr11

120168973

+
intron-3CDSENST00000532993ENST00000543440ARHGEF12chr11

120207984

+POU2F3chr11

120168973

+
Frame-shiftENST00000397843ENST00000260264ARHGEF12chr11

120207984

+POU2F3chr11

120168974

+
Frame-shiftENST00000397843ENST00000543440ARHGEF12chr11

120207984

+POU2F3chr11

120168974

+
Frame-shiftENST00000356641ENST00000260264ARHGEF12chr11

120207984

+POU2F3chr11

120168974

+
Frame-shiftENST00000356641ENST00000543440ARHGEF12chr11

120207984

+POU2F3chr11

120168974

+
intron-3CDSENST00000532993ENST00000260264ARHGEF12chr11

120207984

+POU2F3chr11

120168974

+
intron-3CDSENST00000532993ENST00000543440ARHGEF12chr11

120207984

+POU2F3chr11

120168974

+
Frame-shiftENST00000397843ENST00000260264ARHGEF12chr11

120207984

+POU2F3chr11

120186070

+
Frame-shiftENST00000397843ENST00000543440ARHGEF12chr11

120207984

+POU2F3chr11

120186070

+
Frame-shiftENST00000356641ENST00000260264ARHGEF12chr11

120207984

+POU2F3chr11

120186070

+
Frame-shiftENST00000356641ENST00000543440ARHGEF12chr11

120207984

+POU2F3chr11

120186070

+
intron-3CDSENST00000532993ENST00000260264ARHGEF12chr11

120207984

+POU2F3chr11

120186070

+
intron-3CDSENST00000532993ENST00000543440ARHGEF12chr11

120207984

+POU2F3chr11

120186070

+
Frame-shiftENST00000397843ENST00000260264ARHGEF12chr11

120207984

+POU2F3chr11

120139919

+
Frame-shiftENST00000397843ENST00000543440ARHGEF12chr11

120207984

+POU2F3chr11

120139919

+
Frame-shiftENST00000356641ENST00000260264ARHGEF12chr11

120207984

+POU2F3chr11

120139919

+
Frame-shiftENST00000356641ENST00000543440ARHGEF12chr11

120207984

+POU2F3chr11

120139919

+
intron-3CDSENST00000532993ENST00000260264ARHGEF12chr11

120207984

+POU2F3chr11

120139919

+
intron-3CDSENST00000532993ENST00000543440ARHGEF12chr11

120207984

+POU2F3chr11

120139919

+

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 ARHGEF12-POU2F3


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)
ARHGEF12chr11120207984+POU2F3chr11120186069+0.167695880.83230406
ARHGEF12chr11120207984+POU2F3chr11120139918+0.0636849550.936315
ARHGEF12chr11120207984+POU2F3chr11120139918+0.0636849550.936315
ARHGEF12chr11120207984+POU2F3chr11120168973+0.0392500270.96075
ARHGEF12chr11120207984+POU2F3chr11120168973+0.0392500270.96075
ARHGEF12chr11120207984+POU2F3chr11120168973+0.0392500270.96075
ARHGEF12chr11120207984+POU2F3chr11120186069+0.167695880.83230406
ARHGEF12chr11120207984+POU2F3chr11120139918+0.0636849550.936315
ARHGEF12chr11120207984+POU2F3chr11120139918+0.0636849550.936315
ARHGEF12chr11120207984+POU2F3chr11120168973+0.0392500270.96075
ARHGEF12chr11120207984+POU2F3chr11120168973+0.0392500270.96075
ARHGEF12chr11120207984+POU2F3chr11120168973+0.0392500270.96075

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 ARHGEF12-POU2F3


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ARHGEF12

Q9NZN5

.
FUNCTION: May play a role in the regulation of RhoA GTPase by guanine nucleotide-binding alpha-12 (GNA12) and alpha-13 (GNA13). Acts as guanine nucleotide exchange factor (GEF) for RhoA GTPase and may act as GTPase-activating protein (GAP) for GNA12 and GNA13. {ECO:0000269|PubMed:11094164}.FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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 ARHGEF12-POU2F3


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 ARHGEF12-POU2F3


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 ARHGEF12-POU2F3


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 ARHGEF12-POU2F3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneARHGEF12C0043094Weight Gain1CTD_human