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Fusion gene ID: 2521 |
FusionGeneSummary for ARHGEF12_OAF |
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Fusion gene information | Fusion gene name: ARHGEF12_OAF | Fusion gene ID: 2521 | Hgene | Tgene | Gene symbol | ARHGEF12 | OAF | Gene ID | 23365 | 220323 |
Gene name | Rho guanine nucleotide exchange factor 12 | out at first homolog | |
Synonyms | LARG|PRO2792 | NS5ATP13TP2 | |
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 | out at first protein homologHCV NS5A-transactivated protein 13 target protein 2OAF homolog | |
Modification date | 20180519 | 20180519 | |
UniProtAcc | Q9NZN5 | Q86UD1 | |
Ensembl transtripts involved in fusion gene | ENST00000397843, ENST00000356641, ENST00000532993, | ENST00000328965, ENST00000531220, ENST00000534735, | |
Fusion gene scores | * DoF score | 11 X 8 X 8=704 | 5 X 3 X 5=75 |
# samples | 14 | 5 | |
** MAII score | log2(14/704*10)=-2.33014860169233 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/75*10)=-0.584962500721156 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: ARHGEF12 [Title/Abstract] AND OAF [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 |
![]() (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 | PCPG | TCGA-QR-A6GR-01A | ARHGEF12 | chr11 | 120207984 | + | OAF | chr11 | 120096370 | + |
* 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 | ENST00000328965 | ARHGEF12 | chr11 | 120207984 | + | OAF | chr11 | 120096370 | + |
5CDS-intron | ENST00000397843 | ENST00000531220 | ARHGEF12 | chr11 | 120207984 | + | OAF | chr11 | 120096370 | + |
5CDS-intron | ENST00000397843 | ENST00000534735 | ARHGEF12 | chr11 | 120207984 | + | OAF | chr11 | 120096370 | + |
Frame-shift | ENST00000356641 | ENST00000328965 | ARHGEF12 | chr11 | 120207984 | + | OAF | chr11 | 120096370 | + |
5CDS-intron | ENST00000356641 | ENST00000531220 | ARHGEF12 | chr11 | 120207984 | + | OAF | chr11 | 120096370 | + |
5CDS-intron | ENST00000356641 | ENST00000534735 | ARHGEF12 | chr11 | 120207984 | + | OAF | chr11 | 120096370 | + |
intron-3CDS | ENST00000532993 | ENST00000328965 | ARHGEF12 | chr11 | 120207984 | + | OAF | chr11 | 120096370 | + |
intron-intron | ENST00000532993 | ENST00000531220 | ARHGEF12 | chr11 | 120207984 | + | OAF | chr11 | 120096370 | + |
intron-intron | ENST00000532993 | ENST00000534735 | ARHGEF12 | chr11 | 120207984 | + | OAF | chr11 | 120096370 | + |
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FusionProtFeatures for ARHGEF12_OAF |
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Hgene | Tgene |
ARHGEF12 | OAF |
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}. |
![]() * 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_OAF |
![]() (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_OAF |
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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 | OAF | TM2D3, FCGR3B, HLA-DQB2, TRAC, CEACAM21, ST3GAL4, FIGF, ATP1B4, SIAE, NAAA, BOC, DKKL1, PLA2G10, ARL4C, SFTA2, ST8SIA4, CFB, CCL22, LYPD4, EPHA7, F9 |
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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_OAF |
![]() (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_OAF |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | ARHGEF12 | C0043094 | Weight Gain | 1 | CTD_human |