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Fusion gene ID: 33920 |
FusionGeneSummary for SIPA1_RHOD |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SIPA1_RHOD | Fusion gene ID: 33920 | Hgene | Tgene | Gene symbol | SIPA1 | RHOD | Gene ID | 6494 | 29984 |
| Gene name | signal-induced proliferation-associated 1 | ras homolog family member D | |
| Synonyms | SPA1 | ARHD|RHOHP1|RHOM|Rho | |
| Cytomap | 11q13.1 | 11q13.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | signal-induced proliferation-associated protein 1GTPase-activating protein Spa-1p130 SPA-1signal-induced proliferation-associated gene 1sipa-1 | rho-related GTP-binding protein RhoDRho-related protein HP1ras homolog Dras homolog gene family, member Aras homolog gene family, member D | |
| Modification date | 20180522 | 20180523 | |
| UniProtAcc | Q96FS4 | O00212 | |
| Ensembl transtripts involved in fusion gene | ENST00000534313, ENST00000527525, ENST00000394224, ENST00000394227, | ENST00000308831, ENST00000533360, ENST00000532559, | |
| Fusion gene scores | * DoF score | 2 X 3 X 2=12 | 9 X 4 X 8=288 |
| # samples | 3 | 13 | |
| ** MAII score | log2(3/12*10)=1.32192809488736 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(13/288*10)=-1.14755718841386 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: SIPA1 [Title/Abstract] AND RHOD [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 |
| 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 |
| TCGA | RV | CESC | TCGA-C5-A1M8-01A | SIPA1 | chr11 | 65415129 | + | RHOD | chr11 | 66833367 | + |
| * 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 |
| Frame-shift | ENST00000534313 | ENST00000308831 | SIPA1 | chr11 | 65415129 | + | RHOD | chr11 | 66833367 | + |
| Frame-shift | ENST00000534313 | ENST00000533360 | SIPA1 | chr11 | 65415129 | + | RHOD | chr11 | 66833367 | + |
| 5CDS-intron | ENST00000534313 | ENST00000532559 | SIPA1 | chr11 | 65415129 | + | RHOD | chr11 | 66833367 | + |
| Frame-shift | ENST00000527525 | ENST00000308831 | SIPA1 | chr11 | 65415129 | + | RHOD | chr11 | 66833367 | + |
| Frame-shift | ENST00000527525 | ENST00000533360 | SIPA1 | chr11 | 65415129 | + | RHOD | chr11 | 66833367 | + |
| 5CDS-intron | ENST00000527525 | ENST00000532559 | SIPA1 | chr11 | 65415129 | + | RHOD | chr11 | 66833367 | + |
| Frame-shift | ENST00000394224 | ENST00000308831 | SIPA1 | chr11 | 65415129 | + | RHOD | chr11 | 66833367 | + |
| Frame-shift | ENST00000394224 | ENST00000533360 | SIPA1 | chr11 | 65415129 | + | RHOD | chr11 | 66833367 | + |
| 5CDS-intron | ENST00000394224 | ENST00000532559 | SIPA1 | chr11 | 65415129 | + | RHOD | chr11 | 66833367 | + |
| Frame-shift | ENST00000394227 | ENST00000308831 | SIPA1 | chr11 | 65415129 | + | RHOD | chr11 | 66833367 | + |
| Frame-shift | ENST00000394227 | ENST00000533360 | SIPA1 | chr11 | 65415129 | + | RHOD | chr11 | 66833367 | + |
| 5CDS-intron | ENST00000394227 | ENST00000532559 | SIPA1 | chr11 | 65415129 | + | RHOD | chr11 | 66833367 | + |
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FusionProtFeatures for SIPA1_RHOD |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SIPA1 | RHOD |
| GTPase activator for the nuclear Ras-related regulatoryproteins Rap1 and Rap2 in vitro, converting them to the putativelyinactive GDP-bound state (PubMed:9346962). Affects cell cycleprogression (By similarity). {ECO:0000250|UniProtKB:P46062,ECO:0000269|PubMed:9346962}. | Involved in endosome dynamics. May coordinate membranetransport with the function of the cytoskeleton. Involved in theinternalization and trafficking of activated tyrosine kinasereceptors such as PDGFRB. Participates in the reorganization ofactin cytoskeleton; the function seems to involve WHAMM andincludes regulation of filopodia formation and actin filamentbundling. Can modulate the effect of DAPK3 in reorganization ofactin cytoskeleton and focal adhesion dissolution.{ECO:0000269|PubMed:23087206, ECO:0000269|PubMed:23454120,ECO:0000269|PubMed:24102721}. |
| 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 |
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FusionGeneSequence for SIPA1_RHOD |
| 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). |
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FusionGenePPI for SIPA1_RHOD |
| 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 |
| SIPA1 | BRD4, FMNL1, FN1, DVL1, CDKN1A, CAPZA2, DBN1, MYH9, MYO1C, PPP1CB, IQGAP1, LIMA1, ANLN, MYO19, TRIM25 | RHOD | DIAPH2, PLXNA1, IHH, ADCK5, ADRB2, ANKFY1, SPTB, PLXNB2, DAAM1, TTC19, CETN3, TRMT61B, DIAPH1, PCBP3, C1orf198, TRIM25 |
| - 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 |
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RelatedDrugs for SIPA1_RHOD |
| 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 |
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RelatedDiseases for SIPA1_RHOD |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | SIPA1 | C0025202 | melanoma | 1 | CTD_human |
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