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Fusion gene ID: 35419 |
FusionGeneSummary for SORT1_FAF1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SORT1_FAF1 | Fusion gene ID: 35419 | Hgene | Tgene | Gene symbol | SORT1 | FAF1 | Gene ID | 6272 | 11124 |
| Gene name | sortilin 1 | Fas associated factor 1 | |
| Synonyms | Gp95|LDLCQ6|NT3|NTR3 | CGI-03|HFAF1s|UBXD12|UBXN3A|hFAF1 | |
| Cytomap | 1p13.3|1p21.3-p13.1 | 1p32.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | sortilin100 kDa NT receptorglycoprotein 95neurotensin receptor 3 | FAS-associated factor 1Fas (TNFRSF6) associated factor 1TNFRSF6-associated factor 1UBX domain protein 3AUBX domain-containing protein 12UBX domain-containing protein 3A | |
| Modification date | 20180522 | 20180522 | |
| UniProtAcc | Q99523 | Q9UNN5 | |
| Ensembl transtripts involved in fusion gene | ENST00000256637, ENST00000538502, ENST00000482236, | ENST00000396153, ENST00000371778, ENST00000545823, ENST00000472808, | |
| Fusion gene scores | * DoF score | 6 X 6 X 2=72 | 17 X 15 X 9=2295 |
| # samples | 6 | 22 | |
| ** MAII score | log2(6/72*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(22/2295*10)=-3.38291872477651 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: SORT1 [Title/Abstract] AND FAF1 [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 | SORT1 | GO:0006895 | Golgi to endosome transport | 11331584 |
| Hgene | SORT1 | GO:0006897 | endocytosis | 11331584 |
| Hgene | SORT1 | GO:0007218 | neuropeptide signaling pathway | 9756851 |
| Hgene | SORT1 | GO:0008333 | endosome to lysosome transport | 11331584 |
| Hgene | SORT1 | GO:0008625 | extrinsic apoptotic signaling pathway via death domain receptors | 14985763 |
| Hgene | SORT1 | GO:0016050 | vesicle organization | 15992544 |
| Hgene | SORT1 | GO:0032509 | endosome transport via multivesicular body sorting pathway | 11331584 |
| Hgene | SORT1 | GO:0048227 | plasma membrane to endosome transport | 11331584 |
| Hgene | SORT1 | GO:0051005 | negative regulation of lipoprotein lipase activity | 10085125 |
| Tgene | FAF1 | GO:0010942 | positive regulation of cell death | 15596450 |
| 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 | DB467995 | SORT1 | chr1 | 109935649 | - | FAF1 | chr1 | 51061890 | - |
| * 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 | ENST00000256637 | ENST00000396153 | SORT1 | chr1 | 109935649 | - | FAF1 | chr1 | 51061890 | - |
| intron-3CDS | ENST00000256637 | ENST00000371778 | SORT1 | chr1 | 109935649 | - | FAF1 | chr1 | 51061890 | - |
| intron-3CDS | ENST00000256637 | ENST00000545823 | SORT1 | chr1 | 109935649 | - | FAF1 | chr1 | 51061890 | - |
| intron-5UTR | ENST00000256637 | ENST00000472808 | SORT1 | chr1 | 109935649 | - | FAF1 | chr1 | 51061890 | - |
| 5UTR-3CDS | ENST00000538502 | ENST00000396153 | SORT1 | chr1 | 109935649 | - | FAF1 | chr1 | 51061890 | - |
| 5UTR-3CDS | ENST00000538502 | ENST00000371778 | SORT1 | chr1 | 109935649 | - | FAF1 | chr1 | 51061890 | - |
| 5UTR-3CDS | ENST00000538502 | ENST00000545823 | SORT1 | chr1 | 109935649 | - | FAF1 | chr1 | 51061890 | - |
| 5UTR-5UTR | ENST00000538502 | ENST00000472808 | SORT1 | chr1 | 109935649 | - | FAF1 | chr1 | 51061890 | - |
| 5UTR-3CDS | ENST00000482236 | ENST00000396153 | SORT1 | chr1 | 109935649 | - | FAF1 | chr1 | 51061890 | - |
| 5UTR-3CDS | ENST00000482236 | ENST00000371778 | SORT1 | chr1 | 109935649 | - | FAF1 | chr1 | 51061890 | - |
| 5UTR-3CDS | ENST00000482236 | ENST00000545823 | SORT1 | chr1 | 109935649 | - | FAF1 | chr1 | 51061890 | - |
| 5UTR-5UTR | ENST00000482236 | ENST00000472808 | SORT1 | chr1 | 109935649 | - | FAF1 | chr1 | 51061890 | - |
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FusionProtFeatures for SORT1_FAF1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SORT1 | FAF1 |
| 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}. | Ubiquitin-binding protein (PubMed:19722279). Requiredfor the progression of DNA replication forks by targeting DNAreplication licensing factor CDT1 for degradation(PubMed:26842564). Potentiates but cannot initiate FAS-inducedapoptosis (By similarity). {ECO:0000250|UniProtKB:P54731,ECO:0000269|PubMed:19722279, ECO:0000269|PubMed:26842564}. |
| 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 SORT1_FAF1 |
| 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 SORT1_FAF1 |
| 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 |
| SORT1 | GGA2, CDK2, NGF, LRPAP1, GGA1, ELAVL1, GGA3, STAM, SORCS1, NUDCD3, NTRK1, APBB2, XIAP, ASS1, BAD, BLMH, CDK1, COPA, CSNK1G2, CSPG4, PHC2, EIF2B1, GOLGA3, HP, HSD17B4, KLC1, MAP3K4, MYH1, MYH6, NDUFB5, NHS, NOP2, YBX1, PI4KA, PLCB3, PRCC, RAB13, UPF1, RET, SRSF2, UAP1, SPTBN2, SSR1, TCOF1, TEC, ICAM5, TLN1, USP1, XRCC2, USP11, YARS, OASL, KRT75, GTF2IRD1, ARHGAP32, URB2, C2CD5, URB1, USP15, MPHOSPH6, TCIRG1, ABCA7, SYNCRIP, LAMTOR5, WWP2, TRIOBP, COBLL1, LMTK2, FNDC3A, MORC2, DIS3, RRP1B, FAF2, MED13L, DICER1, SIRT5, KLHDC2, RAB11FIP5, LSM14A, TXNDC11, FBXL19, APTX, PALMD, SSH3, UACA, RBM28, BRIX1, UFSP2, DNAJA4, DDX60, IPO9, UGGT2, BIN3, BAIAP2L1, ZC3HAV1, KIAA1191, FANCM, PAPD5, GPBP1, NOL6, MRPL24, ICE2, ZNF768, PEAK1, MRM1, MUS81, TSEN2, SBF2, PARP9, UTP15, USP32, TUBA1C, SLC25A25, MRPL55, EME1, CENPV, PDE12, TUBB, C2orf69, LEMD2, TMEM9, CDRT4, SH3PXD2B, NSMCE2, DDX51, MIA3, IRF3, FOXR1, PTPRN2, BACE1 | FAF1 | ASCC2, FAS, CSNK2B, G3BP1, RAE1, CASP8, CTNNB1, VCP, NPLOC4, UFD1L, CUL1, CUL2, CUL3, UBR1, HIF1A, ALPP, VCPIP1, SKP1, FBXW11, KLHL22, KBTBD7, WDR26, AMFR, UBR2, UBR4, PJA2, CDC73, TAF1D, RAP1B, UROD, TK1, ANXA1, DNAJB11, CDKN1A, TNNT1, SIRT6, HSD17B10, RCC1, NR1H2, ANXA7, TSC22D1, NR4A1, ITGB1BP1, IGF2, RAD23A, BTRC, NGLY1, UBC, HSPA4, RELA, HSPA8, FADD, IKBKB, NLRP3, NLRP2, NLRP7, NLRP12, NUDT21, SKIL, CARM1, CARS, FAM114A1, FARSB, GART, HIRIP3, HIST1H4A, HSPH1, ILK, PLOD2, PPM1G, PPP2R5C, PRMT3, PUF60, RANBP3, RPL24, SAMHD1, SEC23A, SET, SF1, SWAP70, TLN1, TROVE2, UGP2, XPO7, VAPA, VAPB, UBL4A, ASNA1, GET4, BAG6, RPN2, DDOST, FAF1, CD40, MAGIX, TCEAL1, CBX3, DNAJA1, ZC3H15, NTRK1, RAP1A, CDT1, IPO5, WDR24, YTHDF1, CDC5L, KCTD10, YTHDF3, WDR59, MMAB, NUP98, MYCBP2, USP11, NSFL1C, UBXN7, UBXN1, ASPSCR1, HSPA2, MIOS, UBXN6, BTBD9, KCTD13, TNFAIP1, UBXN2B, BHLHA15, CHCHD10, CLEC3A, PRCC, TRIM25, XIAP |
| - 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 SORT1_FAF1 |
| 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 SORT1_FAF1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | SORT1 | C0007222 | Cardiovascular Diseases | 1 | CTD_human |
| Hgene | SORT1 | C1956346 | Coronary Artery Disease | 1 | CTD_human |
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