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Fusion gene ID: 32445 |
FusionGeneSummary for RYBP_ARL13B |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: RYBP_ARL13B | Fusion gene ID: 32445 | Hgene | Tgene | Gene symbol | RYBP | ARL13B | Gene ID | 23429 | 200894 |
| Gene name | RING1 and YY1 binding protein | ADP ribosylation factor like GTPase 13B | |
| Synonyms | AAP1|APAP-1|DEDAF|YEAF1 | ARL2L1|JBTS8 | |
| Cytomap | 3p13 | 3q11.1-q11.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | RING1 and YY1-binding proteinDED-associated factorYY1 and E4TF1 associated factor 1apoptin-associating protein 1death effector domain-associated factorring1 interactor RYBP | ADP-ribosylation factor-like protein 13BADP-ribosylation factor-like 13BADP-ribosylation factor-like 2-like 1ARL2-like protein 1 | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q8N488 | Q3SXY8 | |
| Ensembl transtripts involved in fusion gene | ENST00000477973, | ENST00000535334, ENST00000303097, ENST00000394222, ENST00000539730, ENST00000471138, ENST00000486562, | |
| Fusion gene scores | * DoF score | 6 X 2 X 5=60 | 3 X 3 X 2=18 |
| # samples | 7 | 4 | |
| ** MAII score | log2(7/60*10)=0.222392421336448 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(4/18*10)=1.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: RYBP [Title/Abstract] AND ARL13B [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 | RYBP | GO:0035518 | histone H2A monoubiquitination | 16943429 |
| 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 | OV | TCGA-04-1348-01A | RYBP | chr3 | 72495647 | - | ARL13B | chr3 | 93714718 | + |
| * 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-intron | ENST00000477973 | ENST00000535334 | RYBP | chr3 | 72495647 | - | ARL13B | chr3 | 93714718 | + |
| 5CDS-intron | ENST00000477973 | ENST00000303097 | RYBP | chr3 | 72495647 | - | ARL13B | chr3 | 93714718 | + |
| 5CDS-intron | ENST00000477973 | ENST00000394222 | RYBP | chr3 | 72495647 | - | ARL13B | chr3 | 93714718 | + |
| 5CDS-5UTR | ENST00000477973 | ENST00000539730 | RYBP | chr3 | 72495647 | - | ARL13B | chr3 | 93714718 | + |
| 5CDS-5UTR | ENST00000477973 | ENST00000471138 | RYBP | chr3 | 72495647 | - | ARL13B | chr3 | 93714718 | + |
| 5CDS-3UTR | ENST00000477973 | ENST00000486562 | RYBP | chr3 | 72495647 | - | ARL13B | chr3 | 93714718 | + |
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FusionProtFeatures for RYBP_ARL13B |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| RYBP | ARL13B |
| Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain thetranscriptionally repressive state of many genes, including Hoxgenes, throughout development. PcG PRC1-like complex acts viachromatin remodeling and modification of histones; it mediatesmonoubiquitination of histone H2A 'Lys-119', rendering chromatinheritably changed in its expressibility (PubMed:25519132).Component of a PRC1-like complex that mediates monoubiquitinationof histone H2A 'Lys-119' on the X chromosome and is required fornormal silencing of one copy of the X chromosome in XX females.May stimulate ubiquitination of histone H2A 'Lys-119' byrecruiting the complex to target sites (By similarity). Inhibitsubiquitination and subsequent degradation of TP53, and therebyplays a role in regulating transcription of TP53 target genes(PubMed:19098711). May also regulate the ubiquitin-mediatedproteasomal degradation of other proteins like FANK1 to regulateapoptosis (PubMed:14765135, PubMed:27060496). May be implicated inthe regulation of the transcription as a repressor of thetranscriptional activity of E4TF1 (PubMed:11953439). May bind toDNA (By similarity). {ECO:0000250|UniProtKB:Q8CCI5,ECO:0000269|PubMed:11953439, ECO:0000269|PubMed:14765135,ECO:0000269|PubMed:19098711, ECO:0000269|PubMed:27060496}. | Cilium-specific protein required to control themicrotubule-based, ciliary axoneme structure. May act bymaintaining the association between IFT subcomplexes A and B.Binds GTP but is not able to hydrolyze it; the GTPase activityremains unclear. Required to pattern the neural tube. Involved incerebral cortex development: required for the initial formation ofa polarized radial glial scaffold, the first step in theconstruction of the cerebral cortex, by regulating ciliarysignaling. Regulates the migration and placement of postmitoticinterneurons in the developing cerebral cortex. May regulateendocytic recycling traffic; however, additional evidences arerequired to confirm these data. {ECO:0000269|PubMed:23150559}. |
| 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 RYBP_ARL13B |
| 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 RYBP_ARL13B |
| 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 |
| RYBP | E2F6, RING1, CBX2, YY1, E2F2, E2F3, E2F4, CASP10, FADD, ABL1, MDM2, TP53, BCOR, PCGF1, RNF2, SOCS2, ZFP42, ELAVL1, PCGF2, PCGF3, BMI1, PCGF5, PCGF6, L3MBTL2, CBX3, TFDP1, WDR5, MGA, SKP1, BCORL1, KDM2B, USP7, FBRS, FBRSL1, CSNK2A1, CSNK2A2, CSNK2B, GABPB1, GABPB2, EED, MORC4, ATF7IP, HERC2, AUTS2, HSPB1, CRK, NOS1AP, MAPK8IP2, FANK1, DDX5, CASP8, MLLT1, YAF2, TFDP2, HDAC1, DCAF7, TRIM25 | ARL13B | UBE2I, MAPK14, FAM63B, TTC30A, STK25, TTC26, VAC14, IFT81, IFT46, TTI1, ARV1, FASTKD1, IFT74, IFT52, IPO11, TNPO2, ANKRD50, PDXDC1, IFT22, RAB18, TMEM17, CTDSPL, PTPRH |
| - 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 RYBP_ARL13B |
| 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 RYBP_ARL13B |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | ARL13B | C2676771 | JOUBERT SYNDROME 8 (disorder) | 2 | CTD_human;UNIPROT |
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