|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 31697 |
FusionGeneSummary for ROCK2_CC2D2A |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ROCK2_CC2D2A | Fusion gene ID: 31697 | Hgene | Tgene | Gene symbol | ROCK2 | CC2D2A | Gene ID | 9475 | 57545 |
| Gene name | Rho associated coiled-coil containing protein kinase 2 | coiled-coil and C2 domain containing 2A | |
| Synonyms | ROCK-II | JBTS9|MKS6 | |
| Cytomap | 2p25.1 | 4p15.32 | |
| Type of gene | protein-coding | protein-coding | |
| Description | rho-associated protein kinase 2p164 ROCK-2rho-associated, coiled-coil-containing protein kinase II | coiled-coil and C2 domain-containing protein 2A | |
| Modification date | 20180527 | 20180519 | |
| UniProtAcc | O75116 | Q9P2K1 | |
| Ensembl transtripts involved in fusion gene | ENST00000315872, ENST00000462366, ENST00000401753, | ENST00000424120, ENST00000413206, ENST00000503292, ENST00000389652, ENST00000438599, ENST00000511544, ENST00000513811, ENST00000507954, ENST00000515124, ENST00000503658, | |
| Fusion gene scores | * DoF score | 10 X 6 X 8=480 | 4 X 4 X 2=32 |
| # samples | 10 | 4 | |
| ** MAII score | log2(10/480*10)=-2.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/32*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: ROCK2 [Title/Abstract] AND CC2D2A [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 | ROCK2 | GO:0006468 | protein phosphorylation | 18559669 |
| 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 | DA225869 | ROCK2 | chr2 | 11322028 | - | CC2D2A | chr4 | 15547493 | - |
| * 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-intron | ENST00000315872 | ENST00000424120 | ROCK2 | chr2 | 11322028 | - | CC2D2A | chr4 | 15547493 | - |
| intron-intron | ENST00000315872 | ENST00000413206 | ROCK2 | chr2 | 11322028 | - | CC2D2A | chr4 | 15547493 | - |
| intron-intron | ENST00000315872 | ENST00000503292 | ROCK2 | chr2 | 11322028 | - | CC2D2A | chr4 | 15547493 | - |
| intron-intron | ENST00000315872 | ENST00000389652 | ROCK2 | chr2 | 11322028 | - | CC2D2A | chr4 | 15547493 | - |
| intron-intron | ENST00000315872 | ENST00000438599 | ROCK2 | chr2 | 11322028 | - | CC2D2A | chr4 | 15547493 | - |
| intron-intron | ENST00000315872 | ENST00000511544 | ROCK2 | chr2 | 11322028 | - | CC2D2A | chr4 | 15547493 | - |
| intron-intron | ENST00000315872 | ENST00000513811 | ROCK2 | chr2 | 11322028 | - | CC2D2A | chr4 | 15547493 | - |
| intron-intron | ENST00000315872 | ENST00000507954 | ROCK2 | chr2 | 11322028 | - | CC2D2A | chr4 | 15547493 | - |
| intron-intron | ENST00000315872 | ENST00000515124 | ROCK2 | chr2 | 11322028 | - | CC2D2A | chr4 | 15547493 | - |
| intron-intron | ENST00000315872 | ENST00000503658 | ROCK2 | chr2 | 11322028 | - | CC2D2A | chr4 | 15547493 | - |
| intron-intron | ENST00000462366 | ENST00000424120 | ROCK2 | chr2 | 11322028 | - | CC2D2A | chr4 | 15547493 | - |
| intron-intron | ENST00000462366 | ENST00000413206 | ROCK2 | chr2 | 11322028 | - | CC2D2A | chr4 | 15547493 | - |
| intron-intron | ENST00000462366 | ENST00000503292 | ROCK2 | chr2 | 11322028 | - | CC2D2A | chr4 | 15547493 | - |
| intron-intron | ENST00000462366 | ENST00000389652 | ROCK2 | chr2 | 11322028 | - | CC2D2A | chr4 | 15547493 | - |
| intron-intron | ENST00000462366 | ENST00000438599 | ROCK2 | chr2 | 11322028 | - | CC2D2A | chr4 | 15547493 | - |
| intron-intron | ENST00000462366 | ENST00000511544 | ROCK2 | chr2 | 11322028 | - | CC2D2A | chr4 | 15547493 | - |
| intron-intron | ENST00000462366 | ENST00000513811 | ROCK2 | chr2 | 11322028 | - | CC2D2A | chr4 | 15547493 | - |
| intron-intron | ENST00000462366 | ENST00000507954 | ROCK2 | chr2 | 11322028 | - | CC2D2A | chr4 | 15547493 | - |
| intron-intron | ENST00000462366 | ENST00000515124 | ROCK2 | chr2 | 11322028 | - | CC2D2A | chr4 | 15547493 | - |
| intron-intron | ENST00000462366 | ENST00000503658 | ROCK2 | chr2 | 11322028 | - | CC2D2A | chr4 | 15547493 | - |
| intron-intron | ENST00000401753 | ENST00000424120 | ROCK2 | chr2 | 11322028 | - | CC2D2A | chr4 | 15547493 | - |
| intron-intron | ENST00000401753 | ENST00000413206 | ROCK2 | chr2 | 11322028 | - | CC2D2A | chr4 | 15547493 | - |
| intron-intron | ENST00000401753 | ENST00000503292 | ROCK2 | chr2 | 11322028 | - | CC2D2A | chr4 | 15547493 | - |
| intron-intron | ENST00000401753 | ENST00000389652 | ROCK2 | chr2 | 11322028 | - | CC2D2A | chr4 | 15547493 | - |
| intron-intron | ENST00000401753 | ENST00000438599 | ROCK2 | chr2 | 11322028 | - | CC2D2A | chr4 | 15547493 | - |
| intron-intron | ENST00000401753 | ENST00000511544 | ROCK2 | chr2 | 11322028 | - | CC2D2A | chr4 | 15547493 | - |
| intron-intron | ENST00000401753 | ENST00000513811 | ROCK2 | chr2 | 11322028 | - | CC2D2A | chr4 | 15547493 | - |
| intron-intron | ENST00000401753 | ENST00000507954 | ROCK2 | chr2 | 11322028 | - | CC2D2A | chr4 | 15547493 | - |
| intron-intron | ENST00000401753 | ENST00000515124 | ROCK2 | chr2 | 11322028 | - | CC2D2A | chr4 | 15547493 | - |
| intron-intron | ENST00000401753 | ENST00000503658 | ROCK2 | chr2 | 11322028 | - | CC2D2A | chr4 | 15547493 | - |
Top |
FusionProtFeatures for ROCK2_CC2D2A |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ROCK2 | CC2D2A |
| 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 ADD1, BRCA2, CNN1, EZR,DPYSL2, EP300, MSN, MYL9/MLC2, NPM1, RDX, PPP1R12A and VIM.Phosphorylates SORL1 and IRF4. Acts as a negative regulator ofVEGF-induced angiogenic endothelial cell activation. Positivelyregulates the activation of p42/MAPK1-p44/MAPK3 and ofp90RSK/RPS6KA1 during myogenic differentiation. Plays an importantrole in the timely initiation of centrosome duplication. Inhibitskeratinocyte terminal differentiation. May regulate closure of theeyelids and ventral body wall through organization of actomyosinbundles. Plays a critical role in the regulation of spine andsynaptic properties in the hippocampus. Plays an important role ingenerating the circadian rhythm of the aortic myofilament Ca(2+)sensitivity and vascular contractility by modulating the myosinlight chain phosphorylation. {ECO:0000269|PubMed:10579722,ECO:0000269|PubMed:15699075, ECO:0000269|PubMed:16574662,ECO:0000269|PubMed:17015463, ECO:0000269|PubMed:19131646,ECO:0000269|PubMed:19997641, ECO:0000269|PubMed:21084279,ECO:0000269|PubMed:21147781}. | Component of the tectonic-like complex, a complexlocalized at the transition zone of primary cilia and acting as abarrier that prevents diffusion of transmembrane proteins betweenthe cilia and plasma membranes. Required for ciliogenesis andsonic hedgehog/SHH signaling (By similarity). {ECO:0000250,ECO:0000269|PubMed:18513680}. |
| 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 ROCK2_CC2D2A |
| 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 ROCK2_CC2D2A |
| 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 ROCK2_CC2D2A |
| 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 ROCK2_CC2D2A |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | CC2D2A | C2676788 | JOUBERT SYNDROME 9 (disorder) | 8 | CTD_human;UNIPROT |
| Tgene | CC2D2A | C1857662 | COACH syndrome | 2 | CTD_human;ORPHANET;UNIPROT |
| Tgene | CC2D2A | C2676790 | MECKEL SYNDROME, TYPE 6 (disorder) | 2 | CTD_human;UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|