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Fusion gene ID: 34904 |
FusionGeneSummary for SMG6_ANKFY1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SMG6_ANKFY1 | Fusion gene ID: 34904 | Hgene | Tgene | Gene symbol | SMG6 | ANKFY1 | Gene ID | 23293 | 51479 |
| Gene name | SMG6, nonsense mediated mRNA decay factor | ankyrin repeat and FYVE domain containing 1 | |
| Synonyms | C17orf31|EST1A|SMG-6|hSMG5/7a | ANKHZN|BTBD23|ZFYVE14 | |
| Cytomap | 17p13.3 | 17p13.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | telomerase-binding protein EST1AEST1 telomerase component homolog Aever shorter telomeres 1Asmg-6 homolog, nonsense mediated mRNA decay factortelomerase subunit EST1A | rabankyrin-5Rabankyrin-5ankyrin repeat and FYVE domain-containing protein 1ankyrin repeat hooked to zinc finger motifankyrin repeats hooked to a zinc finger motifrank-5 | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | Q86US8 | Q9P2R3 | |
| Ensembl transtripts involved in fusion gene | ENST00000544865, ENST00000263073, ENST00000354901, ENST00000536871, ENST00000573166, | ENST00000341657, ENST00000570535, ENST00000574367, ENST00000573722, ENST00000433651, | |
| Fusion gene scores | * DoF score | 12 X 8 X 5=480 | 4 X 4 X 3=48 |
| # samples | 12 | 4 | |
| ** MAII score | log2(12/480*10)=-2 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: SMG6 [Title/Abstract] AND ANKFY1 [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 | SMG6 | GO:1904354 | negative regulation of telomere capping | 12676087 |
| Tgene | ANKFY1 | GO:0034058 | endosomal vesicle fusion | 15328530 |
| Tgene | ANKFY1 | GO:0048549 | positive regulation of pinocytosis | 15328530 |
| 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 | PRAD | TCGA-YJ-A8SW-01A | SMG6 | chr17 | 1985104 | - | ANKFY1 | chr17 | 4145743 | - |
| * 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 |
| Frame-shift | ENST00000544865 | ENST00000341657 | SMG6 | chr17 | 1985104 | - | ANKFY1 | chr17 | 4145743 | - |
| Frame-shift | ENST00000544865 | ENST00000570535 | SMG6 | chr17 | 1985104 | - | ANKFY1 | chr17 | 4145743 | - |
| Frame-shift | ENST00000544865 | ENST00000574367 | SMG6 | chr17 | 1985104 | - | ANKFY1 | chr17 | 4145743 | - |
| 5CDS-intron | ENST00000544865 | ENST00000573722 | SMG6 | chr17 | 1985104 | - | ANKFY1 | chr17 | 4145743 | - |
| 5CDS-intron | ENST00000544865 | ENST00000433651 | SMG6 | chr17 | 1985104 | - | ANKFY1 | chr17 | 4145743 | - |
| Frame-shift | ENST00000263073 | ENST00000341657 | SMG6 | chr17 | 1985104 | - | ANKFY1 | chr17 | 4145743 | - |
| Frame-shift | ENST00000263073 | ENST00000570535 | SMG6 | chr17 | 1985104 | - | ANKFY1 | chr17 | 4145743 | - |
| Frame-shift | ENST00000263073 | ENST00000574367 | SMG6 | chr17 | 1985104 | - | ANKFY1 | chr17 | 4145743 | - |
| 5CDS-intron | ENST00000263073 | ENST00000573722 | SMG6 | chr17 | 1985104 | - | ANKFY1 | chr17 | 4145743 | - |
| 5CDS-intron | ENST00000263073 | ENST00000433651 | SMG6 | chr17 | 1985104 | - | ANKFY1 | chr17 | 4145743 | - |
| Frame-shift | ENST00000354901 | ENST00000341657 | SMG6 | chr17 | 1985104 | - | ANKFY1 | chr17 | 4145743 | - |
| Frame-shift | ENST00000354901 | ENST00000570535 | SMG6 | chr17 | 1985104 | - | ANKFY1 | chr17 | 4145743 | - |
| Frame-shift | ENST00000354901 | ENST00000574367 | SMG6 | chr17 | 1985104 | - | ANKFY1 | chr17 | 4145743 | - |
| 5CDS-intron | ENST00000354901 | ENST00000573722 | SMG6 | chr17 | 1985104 | - | ANKFY1 | chr17 | 4145743 | - |
| 5CDS-intron | ENST00000354901 | ENST00000433651 | SMG6 | chr17 | 1985104 | - | ANKFY1 | chr17 | 4145743 | - |
| Frame-shift | ENST00000536871 | ENST00000341657 | SMG6 | chr17 | 1985104 | - | ANKFY1 | chr17 | 4145743 | - |
| Frame-shift | ENST00000536871 | ENST00000570535 | SMG6 | chr17 | 1985104 | - | ANKFY1 | chr17 | 4145743 | - |
| Frame-shift | ENST00000536871 | ENST00000574367 | SMG6 | chr17 | 1985104 | - | ANKFY1 | chr17 | 4145743 | - |
| 5CDS-intron | ENST00000536871 | ENST00000573722 | SMG6 | chr17 | 1985104 | - | ANKFY1 | chr17 | 4145743 | - |
| 5CDS-intron | ENST00000536871 | ENST00000433651 | SMG6 | chr17 | 1985104 | - | ANKFY1 | chr17 | 4145743 | - |
| 5UTR-3CDS | ENST00000573166 | ENST00000341657 | SMG6 | chr17 | 1985104 | - | ANKFY1 | chr17 | 4145743 | - |
| 5UTR-3CDS | ENST00000573166 | ENST00000570535 | SMG6 | chr17 | 1985104 | - | ANKFY1 | chr17 | 4145743 | - |
| 5UTR-3CDS | ENST00000573166 | ENST00000574367 | SMG6 | chr17 | 1985104 | - | ANKFY1 | chr17 | 4145743 | - |
| 5UTR-intron | ENST00000573166 | ENST00000573722 | SMG6 | chr17 | 1985104 | - | ANKFY1 | chr17 | 4145743 | - |
| 5UTR-intron | ENST00000573166 | ENST00000433651 | SMG6 | chr17 | 1985104 | - | ANKFY1 | chr17 | 4145743 | - |
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FusionProtFeatures for SMG6_ANKFY1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SMG6 | ANKFY1 |
| Component of the telomerase ribonucleoprotein (RNP)complex that is essential for the replication of chromosometermini. May have a general role in telomere regulation. Promotesin vitro the ability of TERT to elongate telomeres. Overexpressioninduces telomere uncapping, chromosomal end-to-end fusions(telomeric DNA persists at the fusion points) and did not perturbTRF2 telomeric localization. Binds to the single-stranded 5'-(GTGTGG)(4)GTGT-3' telomeric DNA, but not to a telomerase RNAtemplate component (TER). Plays a role in nonsense-mediated mRNA decay. Is thoughtto provide a link to the mRNA degradation machinery as it hasendonuclease activity required to initiate NMD, and to serve as anadapter for UPF1 to protein phosphatase 2A (PP2A), therebytriggering UPF1 dephosphorylation. Degrades single-stranded RNA(ssRNA), but not ssDNA or dsRNA. | Proposed effector of Rab5. Binds to phosphatidylinositol3-phosphate (PI(3)P). Involved in homotypic early endosome fusionand to a lesser extent in heterotypic fusion of chlathrin-coatedvesicles with early endosomes. Involved in macropinocytosis; thefunction is dependent on Rab5-GTP. Required for correct endosomallocalization. Involved in the internalization and trafficking ofactivated tyrosine kinase receptors such as PDGFRB. Regulates thesubcellular localization of the retromer complex in a EHD1-dependent manner. Involved in endosome-to-Golgi transport andbiosynthetic transport to late endosomes and lysosomes indicativefor a regulation of retromer complex-mediated retrogradetransport. {ECO:0000269|PubMed:15328530,ECO:0000269|PubMed:22284051, ECO:0000269|PubMed:24102721}. |
| 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 SMG6_ANKFY1 |
| 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 SMG6_ANKFY1 |
| 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 |
| SMG6 | TERT, HDAC8, UPF1, HBB, PPP1CC, SOX2, RBM8A, MAGOH, PABPC1, SMG6, UPF3B, SMG5, SMG7, PSG1, C2orf68, FAM221B, SPATA1, HAO2, LPIN3, TRIM25 | ANKFY1 | USPL1, ATG101, DDA1, GABARAP, GBAS, PIK3C2A, CUL3, RAB5A, EHD1, MICALL1, VPS35, VPS26A, GRK5, SMURF1, KIAA0101, FAM21A, MON2, ROCK1, KIAA1033, RHOD, RHOF, EZH2, ANKRD44, CCDC183, MEMO1, TTC29, NTRK1, SRPK2, CLK1, ERAL1, CAMSAP3, HIF1AN, C19orf45, CYLD |
| - 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 SMG6_ANKFY1 |
| 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 SMG6_ANKFY1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | ANKFY1 | C0005695 | Bladder Neoplasm | 1 | CTD_human |
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