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Fusion gene ID: 31691 |
FusionGeneSummary for ROCK1_RBM47 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ROCK1_RBM47 | Fusion gene ID: 31691 | Hgene | Tgene | Gene symbol | ROCK1 | RBM47 | Gene ID | 6093 | 54502 |
| Gene name | Rho associated coiled-coil containing protein kinase 1 | RNA binding motif protein 47 | |
| Synonyms | P160ROCK|ROCK-I | NET18 | |
| Cytomap | 18q11.1 | 4p14 | |
| Type of gene | protein-coding | protein-coding | |
| Description | rho-associated protein kinase 1p160 ROCK-1renal carcinoma antigen NY-REN-35 | RNA-binding protein 47 | |
| Modification date | 20180527 | 20180519 | |
| UniProtAcc | Q13464 | A0AV96 | |
| Ensembl transtripts involved in fusion gene | ENST00000399799, | ENST00000319592, ENST00000381793, ENST00000381795, ENST00000295971, ENST00000514014, ENST00000515809, | |
| Fusion gene scores | * DoF score | 21 X 11 X 11=2541 | 6 X 7 X 3=126 |
| # samples | 23 | 7 | |
| ** MAII score | log2(23/2541*10)=-3.46569060910898 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(7/126*10)=-0.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: ROCK1 [Title/Abstract] AND RBM47 [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 |
| Hgene | ROCK1 | GO:0007159 | leukocyte cell-cell adhesion | 12082081 |
| Hgene | ROCK1 | GO:0022614 | membrane to membrane docking | 12082081 |
| Hgene | ROCK1 | GO:0032091 | negative regulation of protein binding | 18573880 |
| Hgene | ROCK1 | GO:0032956 | regulation of actin cytoskeleton organization | 25911094 |
| Hgene | ROCK1 | GO:0050900 | leukocyte migration | 12082081 |
| Hgene | ROCK1 | GO:0050901 | leukocyte tethering or rolling | 12082081 |
| 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 | LD | PRAD | TCGA-KK-A6E6-01A | ROCK1 | chr18 | 18650493 | - | RBM47 | chr4 | 40546523 | - |
| * 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 |
| 5CDS-5UTR | ENST00000399799 | ENST00000319592 | ROCK1 | chr18 | 18650493 | - | RBM47 | chr4 | 40546523 | - |
| 5CDS-intron | ENST00000399799 | ENST00000381793 | ROCK1 | chr18 | 18650493 | - | RBM47 | chr4 | 40546523 | - |
| 5CDS-intron | ENST00000399799 | ENST00000381795 | ROCK1 | chr18 | 18650493 | - | RBM47 | chr4 | 40546523 | - |
| 5CDS-5UTR | ENST00000399799 | ENST00000295971 | ROCK1 | chr18 | 18650493 | - | RBM47 | chr4 | 40546523 | - |
| 5CDS-5UTR | ENST00000399799 | ENST00000514014 | ROCK1 | chr18 | 18650493 | - | RBM47 | chr4 | 40546523 | - |
| 5CDS-intron | ENST00000399799 | ENST00000515809 | ROCK1 | chr18 | 18650493 | - | RBM47 | chr4 | 40546523 | - |
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FusionProtFeatures for ROCK1_RBM47 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ROCK1 | RBM47 |
| Protein kinase which is a key regulator of actincytoskeleton and cell polarity. Involved in regulation of smoothmuscle contraction, actin cytoskeleton organization, stress fiberand focal adhesion formation, neurite retraction, cell adhesionand motility via phosphorylation of DAPK3, GFAP, LIMK1, LIMK2,MYL9/MLC2, PFN1 and PPP1R12A. Phosphorylates FHOD1 and actssynergistically with it to promote SRC-dependent non-apoptoticplasma membrane blebbing. Phosphorylates JIP3 and regulates therecruitment of JNK to JIP3 upon UVB-induced stress. Acts as asuppressor of inflammatory cell migration by regulating PTENphosphorylation and stability. Acts as a negative regulator ofVEGF-induced angiogenic endothelial cell activation. Required forcentrosome positioning and centrosome-dependent exit from mitosis.Plays a role in terminal erythroid differentiation. May regulateclosure of the eyelids and ventral body wall by inducing theassembly of actomyosin bundles. Promotes keratinocyte terminaldifferentiation. Involved in osteoblast compaction through thefibronectin fibrillogenesis cell-mediated matrix assembly process,essential for osteoblast mineralization.{ECO:0000269|PubMed:10436159, ECO:0000269|PubMed:10652353,ECO:0000269|PubMed:11018042, ECO:0000269|PubMed:11283607,ECO:0000269|PubMed:17158456, ECO:0000269|PubMed:18573880,ECO:0000269|PubMed:18694941, ECO:0000269|PubMed:19036714,ECO:0000269|PubMed:19131646, ECO:0000269|PubMed:19181962,ECO:0000269|PubMed:19997641, ECO:0000269|PubMed:21072057,ECO:0000269|PubMed:8617235, ECO:0000269|PubMed:9722579}. |
| 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 ROCK1_RBM47 |
| 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 ROCK1_RBM47 |
| 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 |
| ROCK1 | CDC25A, PFN2, RHOA, RND3, GAB1, CFL1, LIMK2, HNRNPA1, ITSN2, ARRB1, TSG101, NOTCH1, SMURF1, SMAD2, CASP3, CASP7, CDK15, ANKFY1, MON2, FAM21A, KIAA1033, IKBKB, LMO2, MAGEB4, POLR3C, C6orf165, FAM124A, NXF1, NTRK1, MED23, XRCC5, NEIL3, TRIM15, HGS, SLC9A1, UBE2T, CDKN3, TENC1, ROCK2, ADD2, IL20RA, CYLD | RBM47 | ELAVL1, C1orf94, HSFY1, RNF2, ATM, 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 ROCK1_RBM47 |
| 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 ROCK1_RBM47 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | RBM47 | C3495559 | Juvenile arthritis | 1 | CTD_human |
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