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Fusion gene ID: 4702 |
FusionGeneSummary for C14orf37_KIAA0586 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: C14orf37_KIAA0586 | Fusion gene ID: 4702 | Hgene | Tgene | Gene symbol | C14orf37 | KIAA0586 | Gene ID | 9786 |
| Gene name | KIAA0586 | ||
| Synonyms | JBTS23|SRTD14|Talpid3 | ||
| Cytomap | 14q23.1 | ||
| Type of gene | protein-coding | ||
| Description | protein TALPID3 | ||
| Modification date | 20180523 | ||
| UniProtAcc | Q9BVV6 | ||
| Ensembl transtripts involved in fusion gene | ENST00000267485, ENST00000334342, | ENST00000354386, ENST00000556134, ENST00000423743, ENST00000261244, ENST00000538571, | |
| Fusion gene scores | * DoF score | 9 X 8 X 4=288 | 2 X 2 X 3=12 |
| # samples | 9 | 3 | |
| ** MAII score | log2(9/288*10)=-1.67807190511264 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/12*10)=1.32192809488736 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: C14orf37 [Title/Abstract] AND KIAA0586 [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 | LGG | TCGA-DU-7006-01A | C14orf37 | chr14 | 58764673 | - | KIAA0586 | chr14 | 58975273 | + |
| * 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-3CDS | ENST00000267485 | ENST00000354386 | C14orf37 | chr14 | 58764673 | - | KIAA0586 | chr14 | 58975273 | + |
| intron-3CDS | ENST00000267485 | ENST00000556134 | C14orf37 | chr14 | 58764673 | - | KIAA0586 | chr14 | 58975273 | + |
| intron-3CDS | ENST00000267485 | ENST00000423743 | C14orf37 | chr14 | 58764673 | - | KIAA0586 | chr14 | 58975273 | + |
| intron-3CDS | ENST00000267485 | ENST00000261244 | C14orf37 | chr14 | 58764673 | - | KIAA0586 | chr14 | 58975273 | + |
| intron-3UTR | ENST00000267485 | ENST00000538571 | C14orf37 | chr14 | 58764673 | - | KIAA0586 | chr14 | 58975273 | + |
| intron-3CDS | ENST00000334342 | ENST00000354386 | C14orf37 | chr14 | 58764673 | - | KIAA0586 | chr14 | 58975273 | + |
| intron-3CDS | ENST00000334342 | ENST00000556134 | C14orf37 | chr14 | 58764673 | - | KIAA0586 | chr14 | 58975273 | + |
| intron-3CDS | ENST00000334342 | ENST00000423743 | C14orf37 | chr14 | 58764673 | - | KIAA0586 | chr14 | 58975273 | + |
| intron-3CDS | ENST00000334342 | ENST00000261244 | C14orf37 | chr14 | 58764673 | - | KIAA0586 | chr14 | 58975273 | + |
| intron-3UTR | ENST00000334342 | ENST00000538571 | C14orf37 | chr14 | 58764673 | - | KIAA0586 | chr14 | 58975273 | + |
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FusionProtFeatures for C14orf37_KIAA0586 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| C14orf37 | KIAA0586 |
| Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}. | Required for ciliogenesis and sonic hedgehog/SHHsignaling. Required for the centrosomal recruitment of RAB8A andfor the targeting of centriole satellite proteins to centrosomessuch as of PCM1. May play a role in early ciliogenesis in thedisappearance of centriolar satellites that preceeds ciliaryvesicle formation (PubMed:24421332). Involved in regulation ofcell intracellular organization. Involved in regulation of cellpolarity (By similarity). Required for asymmetrical localizationof CEP120 to daughter centrioles (By similarity).{ECO:0000250|UniProtKB:E9PV87, ECO:0000250|UniProtKB:Q1G7G9,ECO:0000269|PubMed:24421332}. |
| 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 C14orf37_KIAA0586 |
| 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 C14orf37_KIAA0586 |
| 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 |
| C14orf37 | BMPR2, BMPR1A, NDFIP1, CD320, FGFR1, TRIM25 | KIAA0586 | UBC, HECW2, CENPJ, KIAA0753, CEP120, DYNLT1, TSC22D2, CDC16, C6orf141, NCAPH2, IL17RA |
| - 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 C14orf37_KIAA0586 |
| 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 C14orf37_KIAA0586 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | KIAA0586 | C0152427 | Polydactyly | 1 | CTD_human |
| Tgene | KIAA0586 | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
| Tgene | KIAA0586 | C4084822 | JOUBERT SYNDROME 23 | 1 | UNIPROT |
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