|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 2485 |
FusionGeneSummary for ARHGAP9_MARS |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ARHGAP9_MARS | Fusion gene ID: 2485 | Hgene | Tgene | Gene symbol | ARHGAP9 | MARS | Gene ID | 64333 | 84174 |
| Gene name | Rho GTPase activating protein 9 | Src like adaptor 2 | |
| Synonyms | 10C|RGL1 | C20orf156|MARS|SLAP-2|SLAP2 | |
| Cytomap | 12q13.3 | 20q11.23 | |
| Type of gene | protein-coding | protein-coding | |
| Description | rho GTPase-activating protein 9rho-type GTPase-activating protein 9 | src-like-adapter 2Src-like adapter protein-2modulator of antigen receptor signaling | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q9BRR9 | P56192 | |
| Ensembl transtripts involved in fusion gene | ENST00000393791, ENST00000356411, ENST00000424809, ENST00000393797, ENST00000550288, ENST00000430041, ENST00000550454, | ENST00000262027, ENST00000315473, ENST00000447721, | |
| Fusion gene scores | * DoF score | 2 X 2 X 1=4 | 11 X 11 X 4=484 |
| # samples | 5 | 15 | |
| ** MAII score | log2(5/4*10)=3.64385618977473 | log2(15/484*10)=-1.69004454677871 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: ARHGAP9 [Title/Abstract] AND MARS [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | |||
| * DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Tgene | MARS | GO:0000122 | negative regulation of transcription by RNA polymerase II | 11696592 |
| Tgene | MARS | GO:0050849 | negative regulation of calcium-mediated signaling | 11696592 |
| Fusion gene information from three resources (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 |
| ChiTaRS3.1 | AW409902 | ARHGAP9 | chr12 | 57883307 | + | MARS | chr12 | 57883326 | - | ||
| ChiTaRS3.1 | BE269882 | ARHGAP9 | chr12 | 57883307 | + | MARS | chr12 | 57883326 | - | ||
| ChiTaRS3.1 | BE295899 | ARHGAP9 | chr12 | 57883307 | + | MARS | chr12 | 57883326 | - |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| 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. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| intron-3CDS | ENST00000393791 | ENST00000262027 | ARHGAP9 | chr12 | 57883307 | + | MARS | chr12 | 57883326 | - |
| intron-5UTR | ENST00000393791 | ENST00000315473 | ARHGAP9 | chr12 | 57883307 | + | MARS | chr12 | 57883326 | - |
| intron-intron | ENST00000393791 | ENST00000447721 | ARHGAP9 | chr12 | 57883307 | + | MARS | chr12 | 57883326 | - |
| intron-3CDS | ENST00000356411 | ENST00000262027 | ARHGAP9 | chr12 | 57883307 | + | MARS | chr12 | 57883326 | - |
| intron-5UTR | ENST00000356411 | ENST00000315473 | ARHGAP9 | chr12 | 57883307 | + | MARS | chr12 | 57883326 | - |
| intron-intron | ENST00000356411 | ENST00000447721 | ARHGAP9 | chr12 | 57883307 | + | MARS | chr12 | 57883326 | - |
| intron-3CDS | ENST00000424809 | ENST00000262027 | ARHGAP9 | chr12 | 57883307 | + | MARS | chr12 | 57883326 | - |
| intron-5UTR | ENST00000424809 | ENST00000315473 | ARHGAP9 | chr12 | 57883307 | + | MARS | chr12 | 57883326 | - |
| intron-intron | ENST00000424809 | ENST00000447721 | ARHGAP9 | chr12 | 57883307 | + | MARS | chr12 | 57883326 | - |
| intron-3CDS | ENST00000393797 | ENST00000262027 | ARHGAP9 | chr12 | 57883307 | + | MARS | chr12 | 57883326 | - |
| intron-5UTR | ENST00000393797 | ENST00000315473 | ARHGAP9 | chr12 | 57883307 | + | MARS | chr12 | 57883326 | - |
| intron-intron | ENST00000393797 | ENST00000447721 | ARHGAP9 | chr12 | 57883307 | + | MARS | chr12 | 57883326 | - |
| intron-3CDS | ENST00000550288 | ENST00000262027 | ARHGAP9 | chr12 | 57883307 | + | MARS | chr12 | 57883326 | - |
| intron-5UTR | ENST00000550288 | ENST00000315473 | ARHGAP9 | chr12 | 57883307 | + | MARS | chr12 | 57883326 | - |
| intron-intron | ENST00000550288 | ENST00000447721 | ARHGAP9 | chr12 | 57883307 | + | MARS | chr12 | 57883326 | - |
| intron-3CDS | ENST00000430041 | ENST00000262027 | ARHGAP9 | chr12 | 57883307 | + | MARS | chr12 | 57883326 | - |
| intron-5UTR | ENST00000430041 | ENST00000315473 | ARHGAP9 | chr12 | 57883307 | + | MARS | chr12 | 57883326 | - |
| intron-intron | ENST00000430041 | ENST00000447721 | ARHGAP9 | chr12 | 57883307 | + | MARS | chr12 | 57883326 | - |
| intron-3CDS | ENST00000550454 | ENST00000262027 | ARHGAP9 | chr12 | 57883307 | + | MARS | chr12 | 57883326 | - |
| intron-5UTR | ENST00000550454 | ENST00000315473 | ARHGAP9 | chr12 | 57883307 | + | MARS | chr12 | 57883326 | - |
| intron-intron | ENST00000550454 | ENST00000447721 | ARHGAP9 | chr12 | 57883307 | + | MARS | chr12 | 57883326 | - |
Top |
FusionProtFeatures for ARHGAP9_MARS |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ARHGAP9 | MARS |
| GTPase activator for the Rho-type GTPases by convertingthem to an inactive GDP-bound state. Has a substantial GAPactivity toward CDC42 and RAC1 and less toward RHOA. Has a role inregulating adhesion of hematopoietic cells to the extracellularmatrix. Binds phosphoinositides, and has the highest affinity forphosphatidylinositol 3,4,5-trisphosphate, followed byphosphatidylinositol 3,4-bisphosphate and phosphatidylinositol4,5-bisphosphate. {ECO:0000269|PubMed:11396949}. | Catalyzes the specific attachment of an amino acid toits cognate tRNA in a 2 step reaction: the amino acid (AA) isfirst activated by ATP to form AA-AMP and then transferred to theacceptor end of the tRNA. {ECO:0000269|PubMed:11714285}. |
| Retention 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 . * 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 |
Top |
FusionGeneSequence for ARHGAP9_MARS |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (nt: nucleotides, aa: amino acids) |
| * Fusion amino acid sequences. |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| * Fusion transcript sequences (Full-length transcript). |
Top |
FusionGenePPI for ARHGAP9_MARS |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
Top |
RelatedDrugs for ARHGAP9_MARS |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
RelatedDiseases for ARHGAP9_MARS |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | ARHGAP9 | C0010073 | Coronary Artery Vasospasm | 1 | CTD_human |
| Hgene | ARHGAP9 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Tgene | MARS | C4084821 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U | 2 | ORPHANET;UNIPROT |
| Tgene | MARS | C4225400 | INTERSTITIAL LUNG AND LIVER DISEASE | 2 | ORPHANET;UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|