|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 32294 |
FusionGeneSummary for RSL1D1_CCP110 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: RSL1D1_CCP110 | Fusion gene ID: 32294 | Hgene | Tgene | Gene symbol | RSL1D1 | CCP110 | Gene ID | 26156 | 9738 |
| Gene name | ribosomal L1 domain containing 1 | centriolar coiled-coil protein 110 | |
| Synonyms | CSIG|L12|PBK1|UTP30 | CP110|Cep110 | |
| Cytomap | 16p13.13 | 16p12.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | ribosomal L1 domain-containing protein 1CATX-11cellular senescence-inhibited gene protein | centriolar coiled-coil protein of 110 kDacentriolar coiled-coil protein 110kDacentrosomal protein CP110centrosomal protein of 110 kDa | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | O76021 | O43303 | |
| Ensembl transtripts involved in fusion gene | ENST00000571133, ENST00000542106, | ENST00000396212, ENST00000381396, ENST00000573412, ENST00000396208, | |
| Fusion gene scores | * DoF score | 3 X 6 X 2=36 | 1 X 1 X 1=1 |
| # samples | 6 | 1 | |
| ** MAII score | log2(6/36*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: RSL1D1 [Title/Abstract] AND CCP110 [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 | RSL1D1 | GO:0042981 | regulation of apoptotic process | 18678645 |
| Hgene | RSL1D1 | GO:2000772 | regulation of cellular senescence | 18678645 |
| Tgene | CCP110 | GO:0051298 | centrosome duplication | 20596027 |
| 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 | BLCA | TCGA-GC-A4ZW-01A | RSL1D1 | chr16 | 11941525 | - | CCP110 | chr16 | 19539189 | + |
| * 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 | ENST00000571133 | ENST00000396212 | RSL1D1 | chr16 | 11941525 | - | CCP110 | chr16 | 19539189 | + |
| 5CDS-5UTR | ENST00000571133 | ENST00000381396 | RSL1D1 | chr16 | 11941525 | - | CCP110 | chr16 | 19539189 | + |
| 5CDS-intron | ENST00000571133 | ENST00000573412 | RSL1D1 | chr16 | 11941525 | - | CCP110 | chr16 | 19539189 | + |
| 5CDS-5UTR | ENST00000571133 | ENST00000396208 | RSL1D1 | chr16 | 11941525 | - | CCP110 | chr16 | 19539189 | + |
| 5UTR-5UTR | ENST00000542106 | ENST00000396212 | RSL1D1 | chr16 | 11941525 | - | CCP110 | chr16 | 19539189 | + |
| 5UTR-5UTR | ENST00000542106 | ENST00000381396 | RSL1D1 | chr16 | 11941525 | - | CCP110 | chr16 | 19539189 | + |
| 5UTR-intron | ENST00000542106 | ENST00000573412 | RSL1D1 | chr16 | 11941525 | - | CCP110 | chr16 | 19539189 | + |
| 5UTR-5UTR | ENST00000542106 | ENST00000396208 | RSL1D1 | chr16 | 11941525 | - | CCP110 | chr16 | 19539189 | + |
Top |
FusionProtFeatures for RSL1D1_CCP110 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| RSL1D1 | CCP110 |
| Necessary for centrosome duplication at different stagesof procentriole formation. Acts as a key negative regulator ofciliogenesis in collaboration with CEP97 by capping the mothercentriole thereby preventing cilia formation (PubMed:17719545PubMed:17681131, PubMed:23486064). Also involved in promotingciliogenesis. May play a role in the assembly of the mothercentriole subdistal appendages (SDA) thereby effecting the fusionof recycling endosomes to basal bodies during cilia formation (Bysimilarity). Required for correct spindle formation and has a rolein regulating cytokinesis and genome stability via cooperationwith CALM1 and CETN2 (PubMed:16760425).{ECO:0000250|UniProtKB:Q7TSH4, ECO:0000269|PubMed:12361598,ECO:0000269|PubMed:16760425, ECO:0000269|PubMed:17681131,ECO:0000269|PubMed:17719545, ECO:0000269|PubMed:23486064}. |
| 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 RSL1D1_CCP110 |
| 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 RSL1D1_CCP110 |
| 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 |
| RSL1D1 | CNBP, RRP1B, MRGBP, HDGF, SIRT7, CUL3, CUL1, COPS5, CAND1, NOP56, RPL19, HNRNPU, RPS13, MYBBP1A, NHP2L1, RPL4, RPS7, NOLC1, DDX21, FBL, NOP58, NOP2, NCSTN, HP1BP3, POLR3C, RRS1, POLR3F, RBM14, ESR1, FN1, CSNK2A1, IL7R, ITGA4, ADH6, SRPK3, BRCA1, CUL7, OBSL1, SUZ12, EED, RNF2, HIST1H1A, DHX8, NIFK, NPM1, ZC3H3, NTRK1, H1FX, DDX52, RPS11, RRP12, APP, MED4, SRPK2, CBX8, DPPA4, POU5F1, MDM2, CDH1, RBM4, KIAA0020, NCL, INO80B, COQ2, DLD, VDAC1, TRIM25, G3BP1, LMNA, MTF1 | CCP110 | CEP97, CCNF, NEURL4, CEP76, CEP290, ELAVL1, HERC2, ARPC2, SNAP23, LYN, ACTR3, FLOT2, SSSCA1, CAND1, GPI, COPS6, CDK2, CDK1, TUBG1, CALM1, CETN1, USP20, USP33, NLK, LATS1, LATS2, SHMT2, MOV10, JADE2, SKAP1, NTRK1, CENPJ, KIAA0753, MED4, RPGRIP1L, CEP162, PCM1, CALM2, CRK, DVL1, FAM21A, HAUS6, IGF2BP2, MAP7D3, NCAPH, NEDD1, UNC45A, CEP104, CEP120, CEP128, CEP135, NINL, ODF2, DYNLT1, SASS6, XPO1, CCDC14, CDC16, MTUS2, NCAPH2, NCAPG2, SMC2, CEP78, VPRBP, UBR5, DDB1, DYRK2 |
| - 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 RSL1D1_CCP110 |
| 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 RSL1D1_CCP110 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|