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Fusion gene ID: 1038 |
FusionGeneSummary for AFP_SORT1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: AFP_SORT1 | Fusion gene ID: 1038 | Hgene | Tgene | Gene symbol | AFP | SORT1 | Gene ID | 7726 | 6272 |
| Gene name | tripartite motif containing 26 | sortilin 1 | |
| Synonyms | AFP|RNF95|ZNF173 | Gp95|LDLCQ6|NT3|NTR3 | |
| Cytomap | 6p22.1 | 1p13.3|1p21.3-p13.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | tripartite motif-containing protein 26RING finger protein 95acid finger proteinwidely expressed acid zinc finger proteinzinc finger protein 173 | sortilin100 kDa NT receptorglycoprotein 95neurotensin receptor 3 | |
| Modification date | 20180519 | 20180522 | |
| UniProtAcc | P02771 | Q99523 | |
| Ensembl transtripts involved in fusion gene | ENST00000395792, ENST00000226359, ENST00000506820, | ENST00000256637, ENST00000538502, ENST00000482236, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 7 X 8 X 5=280 |
| # samples | 2 | 9 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(9/280*10)=-1.63742992061529 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: AFP [Title/Abstract] AND SORT1 [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 | AFP | GO:0045087 | innate immune response | 18248090 |
| Hgene | AFP | GO:0046597 | negative regulation of viral entry into host cell | 18248090 |
| Hgene | AFP | GO:0051091 | positive regulation of DNA binding transcription factor activity | 23077300 |
| Hgene | AFP | GO:1902187 | negative regulation of viral release from host cell | 18248090 |
| Tgene | SORT1 | GO:0006895 | Golgi to endosome transport | 11331584 |
| Tgene | SORT1 | GO:0006897 | endocytosis | 11331584 |
| Tgene | SORT1 | GO:0007218 | neuropeptide signaling pathway | 9756851 |
| Tgene | SORT1 | GO:0008333 | endosome to lysosome transport | 11331584 |
| Tgene | SORT1 | GO:0008625 | extrinsic apoptotic signaling pathway via death domain receptors | 14985763 |
| Tgene | SORT1 | GO:0016050 | vesicle organization | 15992544 |
| Tgene | SORT1 | GO:0032509 | endosome transport via multivesicular body sorting pathway | 11331584 |
| Tgene | SORT1 | GO:0048227 | plasma membrane to endosome transport | 11331584 |
| Tgene | SORT1 | GO:0051005 | negative regulation of lipoprotein lipase activity | 10085125 |
| 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 |
| ChiTaRS3.1 | BP238936 | AFP | chr4 | 74315824 | + | SORT1 | chr1 | 109855264 | - |
| * 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-3UTR | ENST00000395792 | ENST00000256637 | AFP | chr4 | 74315824 | + | SORT1 | chr1 | 109855264 | - |
| 5CDS-intron | ENST00000395792 | ENST00000538502 | AFP | chr4 | 74315824 | + | SORT1 | chr1 | 109855264 | - |
| 5CDS-intron | ENST00000395792 | ENST00000482236 | AFP | chr4 | 74315824 | + | SORT1 | chr1 | 109855264 | - |
| 5CDS-3UTR | ENST00000226359 | ENST00000256637 | AFP | chr4 | 74315824 | + | SORT1 | chr1 | 109855264 | - |
| 5CDS-intron | ENST00000226359 | ENST00000538502 | AFP | chr4 | 74315824 | + | SORT1 | chr1 | 109855264 | - |
| 5CDS-intron | ENST00000226359 | ENST00000482236 | AFP | chr4 | 74315824 | + | SORT1 | chr1 | 109855264 | - |
| intron-3UTR | ENST00000506820 | ENST00000256637 | AFP | chr4 | 74315824 | + | SORT1 | chr1 | 109855264 | - |
| intron-intron | ENST00000506820 | ENST00000538502 | AFP | chr4 | 74315824 | + | SORT1 | chr1 | 109855264 | - |
| intron-intron | ENST00000506820 | ENST00000482236 | AFP | chr4 | 74315824 | + | SORT1 | chr1 | 109855264 | - |
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FusionProtFeatures for AFP_SORT1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| AFP | SORT1 |
| Binds copper, nickel, and fatty acids as well as, andbilirubin less well than, serum albumin. Only a small percentage(less than 2%) of the human AFP shows estrogen-binding properties. | Functions as a sorting receptor in the Golgi compartmentand as a clearance receptor on the cell surface. Required forprotein transport from the Golgi apparatus to the lysosomes by apathway that is independent of the mannose-6-phosphate receptor(M6PR). Also required for protein transport from the Golgiapparatus to the endosomes. Promotes neuronal apoptosis bymediating endocytosis of the proapoptotic precursor forms of BDNF(proBDNF) and NGFB (proNGFB). Also acts as a receptor forneurotensin. May promote mineralization of the extracellularmatrix during osteogenic differentiation by scavengingextracellular LPL. Probably required in adipocytes for theformation of specialized storage vesicles containing the glucosetransporter SLC2A4/GLUT4 (GLUT4 storage vesicles, or GSVs). Thesevesicles provide a stable pool of SLC2A4 and confer increasedresponsiveness to insulin. May also mediate transport from theendoplasmic reticulum to the Golgi. {ECO:0000269|PubMed:10085125,ECO:0000269|PubMed:11331584, ECO:0000269|PubMed:11390366,ECO:0000269|PubMed:12209882, ECO:0000269|PubMed:12598608,ECO:0000269|PubMed:14657016, ECO:0000269|PubMed:14985763,ECO:0000269|PubMed:15313463, ECO:0000269|PubMed:15930396,ECO:0000269|PubMed:15987945}. |
| 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 AFP_SORT1 |
| 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 AFP_SORT1 |
| 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 |
| - 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 AFP_SORT1 |
| 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 AFP_SORT1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | AFP | C2239176 | Liver carcinoma | 3 | CTD_human |
| Hgene | AFP | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Hgene | AFP | C0023895 | Liver diseases | 1 | CTD_human |
| Hgene | AFP | C0023904 | Liver Neoplasms, Experimental | 1 | CTD_human |
| Hgene | AFP | C0024668 | Mammary Neoplasms, Experimental | 1 | CTD_human |
| Hgene | AFP | C0038356 | Stomach Neoplasms | 1 | CTD_human |
| Hgene | AFP | C1458155 | Mammary Neoplasms | 1 | CTD_human |
| Tgene | SORT1 | C0007222 | Cardiovascular Diseases | 1 | CTD_human |
| Tgene | SORT1 | C1956346 | Coronary Artery Disease | 1 | CTD_human |
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