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Fusion gene ID: 2702 |
FusionGeneSummary for ARL13B_EPHA6 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ARL13B_EPHA6 | Fusion gene ID: 2702 | Hgene | Tgene | Gene symbol | ARL13B | EPHA6 | Gene ID | 200894 | 285220 |
| Gene name | ADP ribosylation factor like GTPase 13B | EPH receptor A6 | |
| Synonyms | ARL2L1|JBTS8 | EHK-2|EHK2|EK12|EPA6|HEK12|PRO57066 | |
| Cytomap | 3q11.1-q11.2 | 3q11.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | ADP-ribosylation factor-like protein 13BADP-ribosylation factor-like 13BADP-ribosylation factor-like 2-like 1ARL2-like protein 1 | ephrin type-A receptor 6EPH homology kinase 2EPH-like kinase 12ephrin receptor EphA6 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q3SXY8 | Q9UF33 | |
| Ensembl transtripts involved in fusion gene | ENST00000535334, ENST00000303097, ENST00000394222, ENST00000539730, ENST00000471138, ENST00000486562, | ENST00000470610, ENST00000389672, ENST00000542517, ENST00000514100, ENST00000502694, ENST00000442602, | |
| Fusion gene scores | * DoF score | 3 X 1 X 3=9 | 8 X 8 X 4=256 |
| # samples | 3 | 8 | |
| ** MAII score | log2(3/9*10)=1.73696559416621 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(8/256*10)=-1.67807190511264 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: ARL13B [Title/Abstract] AND EPHA6 [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 | BLCA | TCGA-XF-AAMX-01A | ARL13B | chr3 | 93722752 | + | EPHA6 | chr3 | 96728848 | + |
| * 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 | ENST00000535334 | ENST00000470610 | ARL13B | chr3 | 93722752 | + | EPHA6 | chr3 | 96728848 | + |
| 5CDS-intron | ENST00000535334 | ENST00000389672 | ARL13B | chr3 | 93722752 | + | EPHA6 | chr3 | 96728848 | + |
| 5CDS-intron | ENST00000535334 | ENST00000542517 | ARL13B | chr3 | 93722752 | + | EPHA6 | chr3 | 96728848 | + |
| 5CDS-intron | ENST00000535334 | ENST00000514100 | ARL13B | chr3 | 93722752 | + | EPHA6 | chr3 | 96728848 | + |
| 5CDS-intron | ENST00000535334 | ENST00000502694 | ARL13B | chr3 | 93722752 | + | EPHA6 | chr3 | 96728848 | + |
| 5CDS-intron | ENST00000535334 | ENST00000442602 | ARL13B | chr3 | 93722752 | + | EPHA6 | chr3 | 96728848 | + |
| intron-intron | ENST00000303097 | ENST00000470610 | ARL13B | chr3 | 93722752 | + | EPHA6 | chr3 | 96728848 | + |
| intron-intron | ENST00000303097 | ENST00000389672 | ARL13B | chr3 | 93722752 | + | EPHA6 | chr3 | 96728848 | + |
| intron-intron | ENST00000303097 | ENST00000542517 | ARL13B | chr3 | 93722752 | + | EPHA6 | chr3 | 96728848 | + |
| intron-intron | ENST00000303097 | ENST00000514100 | ARL13B | chr3 | 93722752 | + | EPHA6 | chr3 | 96728848 | + |
| intron-intron | ENST00000303097 | ENST00000502694 | ARL13B | chr3 | 93722752 | + | EPHA6 | chr3 | 96728848 | + |
| intron-intron | ENST00000303097 | ENST00000442602 | ARL13B | chr3 | 93722752 | + | EPHA6 | chr3 | 96728848 | + |
| 5CDS-intron | ENST00000394222 | ENST00000470610 | ARL13B | chr3 | 93722752 | + | EPHA6 | chr3 | 96728848 | + |
| 5CDS-intron | ENST00000394222 | ENST00000389672 | ARL13B | chr3 | 93722752 | + | EPHA6 | chr3 | 96728848 | + |
| 5CDS-intron | ENST00000394222 | ENST00000542517 | ARL13B | chr3 | 93722752 | + | EPHA6 | chr3 | 96728848 | + |
| 5CDS-intron | ENST00000394222 | ENST00000514100 | ARL13B | chr3 | 93722752 | + | EPHA6 | chr3 | 96728848 | + |
| 5CDS-intron | ENST00000394222 | ENST00000502694 | ARL13B | chr3 | 93722752 | + | EPHA6 | chr3 | 96728848 | + |
| 5CDS-intron | ENST00000394222 | ENST00000442602 | ARL13B | chr3 | 93722752 | + | EPHA6 | chr3 | 96728848 | + |
| intron-intron | ENST00000539730 | ENST00000470610 | ARL13B | chr3 | 93722752 | + | EPHA6 | chr3 | 96728848 | + |
| intron-intron | ENST00000539730 | ENST00000389672 | ARL13B | chr3 | 93722752 | + | EPHA6 | chr3 | 96728848 | + |
| intron-intron | ENST00000539730 | ENST00000542517 | ARL13B | chr3 | 93722752 | + | EPHA6 | chr3 | 96728848 | + |
| intron-intron | ENST00000539730 | ENST00000514100 | ARL13B | chr3 | 93722752 | + | EPHA6 | chr3 | 96728848 | + |
| intron-intron | ENST00000539730 | ENST00000502694 | ARL13B | chr3 | 93722752 | + | EPHA6 | chr3 | 96728848 | + |
| intron-intron | ENST00000539730 | ENST00000442602 | ARL13B | chr3 | 93722752 | + | EPHA6 | chr3 | 96728848 | + |
| 5CDS-intron | ENST00000471138 | ENST00000470610 | ARL13B | chr3 | 93722752 | + | EPHA6 | chr3 | 96728848 | + |
| 5CDS-intron | ENST00000471138 | ENST00000389672 | ARL13B | chr3 | 93722752 | + | EPHA6 | chr3 | 96728848 | + |
| 5CDS-intron | ENST00000471138 | ENST00000542517 | ARL13B | chr3 | 93722752 | + | EPHA6 | chr3 | 96728848 | + |
| 5CDS-intron | ENST00000471138 | ENST00000514100 | ARL13B | chr3 | 93722752 | + | EPHA6 | chr3 | 96728848 | + |
| 5CDS-intron | ENST00000471138 | ENST00000502694 | ARL13B | chr3 | 93722752 | + | EPHA6 | chr3 | 96728848 | + |
| 5CDS-intron | ENST00000471138 | ENST00000442602 | ARL13B | chr3 | 93722752 | + | EPHA6 | chr3 | 96728848 | + |
| intron-intron | ENST00000486562 | ENST00000470610 | ARL13B | chr3 | 93722752 | + | EPHA6 | chr3 | 96728848 | + |
| intron-intron | ENST00000486562 | ENST00000389672 | ARL13B | chr3 | 93722752 | + | EPHA6 | chr3 | 96728848 | + |
| intron-intron | ENST00000486562 | ENST00000542517 | ARL13B | chr3 | 93722752 | + | EPHA6 | chr3 | 96728848 | + |
| intron-intron | ENST00000486562 | ENST00000514100 | ARL13B | chr3 | 93722752 | + | EPHA6 | chr3 | 96728848 | + |
| intron-intron | ENST00000486562 | ENST00000502694 | ARL13B | chr3 | 93722752 | + | EPHA6 | chr3 | 96728848 | + |
| intron-intron | ENST00000486562 | ENST00000442602 | ARL13B | chr3 | 93722752 | + | EPHA6 | chr3 | 96728848 | + |
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FusionProtFeatures for ARL13B_EPHA6 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ARL13B | EPHA6 |
| 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}. | Receptor tyrosine kinase which binds promiscuously GPI-anchored ephrin-A family ligands residing on adjacent cells,leading to contact-dependent bidirectional signaling intoneighboring cells. The signaling pathway downstream of thereceptor is referred to as forward signaling while the signalingpathway downstream of the ephrin ligand is referred to as reversesignaling (By similarity). {ECO:0000250}. |
| 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 ARL13B_EPHA6 |
| 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 ARL13B_EPHA6 |
| 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 |
| ARL13B | UBE2I, MAPK14, FAM63B, TTC30A, STK25, TTC26, VAC14, IFT81, IFT46, TTI1, ARV1, FASTKD1, IFT74, IFT52, IPO11, TNPO2, ANKRD50, PDXDC1, IFT22, RAB18, TMEM17, CTDSPL, PTPRH | EPHA6 | GPHA2, PROC, DEFA5 |
| - 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 ARL13B_EPHA6 |
| 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 ARL13B_EPHA6 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | ARL13B | C2676771 | JOUBERT SYNDROME 8 (disorder) | 2 | CTD_human;UNIPROT |
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