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Fusion gene ID: 2522 |
FusionGeneSummary for ARHGEF12_POU2F3 |
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Fusion gene information | Fusion gene name: ARHGEF12_POU2F3 | Fusion gene ID: 2522 | Hgene | Tgene | Gene symbol | ARHGEF12 | POU2F3 | Gene ID | 23365 | 25833 |
Gene name | Rho guanine nucleotide exchange factor 12 | POU class 2 homeobox 3 | |
Synonyms | LARG|PRO2792 | Epoc-1|OCT-11|OCT11|OTF-11|PLA-1|PLA1|Skn-1a | |
Cytomap | 11q23.3 | 11q23.3 | |
Type of gene | protein-coding | protein-coding | |
Description | rho guanine nucleotide exchange factor 12Rho guanine nucleotide exchange factor (GEF) 12leukemia-associated RhoGEFleukemia-associated rho guanine nucleotide exchange factor | POU domain, class 2, transcription factor 3POU domain transcription factor OCT11aoctamer-binding protein 11octamer-binding transcription factor 11transcription factor PLA-1transcription factor Skn-1 | |
Modification date | 20180519 | 20180519 | |
UniProtAcc | Q9NZN5 | Q9UKI9 | |
Ensembl transtripts involved in fusion gene | ENST00000397843, ENST00000356641, ENST00000532993, | ENST00000260264, ENST00000543440, | |
Fusion gene scores | * DoF score | 11 X 8 X 8=704 | 3 X 2 X 3=18 |
# samples | 14 | 4 | |
** MAII score | log2(14/704*10)=-2.33014860169233 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/18*10)=1.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: ARHGEF12 [Title/Abstract] AND POU2F3 [Title/Abstract] AND fusion [Title/Abstract] | ||
Functional or gene categories assigned by FusionGDB annotation | Tumor suppressor gene involved fusion gene, retained protein feature but frameshift. DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain. |
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | ARHGEF12 | GO:0007186 | G-protein coupled receptor signaling pathway | 15755723 |
Tgene | POU2F3 | GO:0043922 | negative regulation by host of viral transcription | 14645924 |
Tgene | POU2F3 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 12624109 |
![]() (ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018)) * 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. |
Data type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | RV | STAD | TCGA-CG-4438-01A | ARHGEF12 | chr11 | 120207984 | + | POU2F3 | chr11 | 120186070 | + |
TCGA | RV | STAD | TCGA-BR-A452-01A | ARHGEF12 | chr11 | 120207984 | + | POU2F3 | chr11 | 120139919 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
Frame-shift | ENST00000397843 | ENST00000260264 | ARHGEF12 | chr11 | 120207984 | + | POU2F3 | chr11 | 120186070 | + |
Frame-shift | ENST00000397843 | ENST00000543440 | ARHGEF12 | chr11 | 120207984 | + | POU2F3 | chr11 | 120186070 | + |
Frame-shift | ENST00000356641 | ENST00000260264 | ARHGEF12 | chr11 | 120207984 | + | POU2F3 | chr11 | 120186070 | + |
Frame-shift | ENST00000356641 | ENST00000543440 | ARHGEF12 | chr11 | 120207984 | + | POU2F3 | chr11 | 120186070 | + |
intron-3CDS | ENST00000532993 | ENST00000260264 | ARHGEF12 | chr11 | 120207984 | + | POU2F3 | chr11 | 120186070 | + |
intron-3CDS | ENST00000532993 | ENST00000543440 | ARHGEF12 | chr11 | 120207984 | + | POU2F3 | chr11 | 120186070 | + |
Frame-shift | ENST00000397843 | ENST00000260264 | ARHGEF12 | chr11 | 120207984 | + | POU2F3 | chr11 | 120139919 | + |
Frame-shift | ENST00000397843 | ENST00000543440 | ARHGEF12 | chr11 | 120207984 | + | POU2F3 | chr11 | 120139919 | + |
Frame-shift | ENST00000356641 | ENST00000260264 | ARHGEF12 | chr11 | 120207984 | + | POU2F3 | chr11 | 120139919 | + |
Frame-shift | ENST00000356641 | ENST00000543440 | ARHGEF12 | chr11 | 120207984 | + | POU2F3 | chr11 | 120139919 | + |
intron-3CDS | ENST00000532993 | ENST00000260264 | ARHGEF12 | chr11 | 120207984 | + | POU2F3 | chr11 | 120139919 | + |
intron-3CDS | ENST00000532993 | ENST00000543440 | ARHGEF12 | chr11 | 120207984 | + | POU2F3 | chr11 | 120139919 | + |
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FusionProtFeatures for ARHGEF12_POU2F3 |
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Hgene | Tgene |
ARHGEF12 | POU2F3 |
May play a role in the regulation of RhoA GTPase byguanine nucleotide-binding alpha-12 (GNA12) and alpha-13 (GNA13).Acts as guanine nucleotide exchange factor (GEF) for RhoA GTPaseand may act as GTPase-activating protein (GAP) for GNA12 andGNA13. {ECO:0000269|PubMed:11094164}. | Transcription factor that binds to the octamer motif(5'-ATTTGCAT-3'). Regulated the expression of a number of genessuch as SPRR2A or placental lactogen. |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for ARHGEF12_POU2F3 |
![]() (nt: nucleotides, aa: amino acids) |
* Fusion amino acid sequences. |
* Fusion transcript sequences (only coding sequence (CDS) region). |
* Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for ARHGEF12_POU2F3 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
ARHGEF12 | ARHGEF12, RHOA, IGF1R, PLXNB2, PLXNB1, GNA12, GNA13, TEC, CUL3, ARRB2, CYLD, KLHL20, CCDC183, SLC25A41, TRMT61A, VAPB, NTRK1, CLK1, NIPSNAP1, SMC3, VAPA, GAN, MYO6, CDH1, RHOC, TRIM25 | POU2F3 | BCL6, CREBBP |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for ARHGEF12_POU2F3 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for ARHGEF12_POU2F3 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | ARHGEF12 | C0043094 | Weight Gain | 1 | CTD_human |