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Fusion gene ID: 7861 |
FusionGeneSummary for COL18A1_SNW1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: COL18A1_SNW1 | Fusion gene ID: 7861 | Hgene | Tgene | Gene symbol | COL18A1 | SNW1 | Gene ID | 80781 | 22938 |
| Gene name | collagen type XVIII alpha 1 chain | SNW domain containing 1 | |
| Synonyms | KNO|KNO1|KS | Bx42|FUN20|NCOA-62|PRPF45|Prp45|SKIIP|SKIP|SKIP1 | |
| Cytomap | 21q22.3 | 14q24.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | collagen alpha-1(XVIII) chainantiangiogenic agentcollagen alpha-1(XVIII) chain isoform 1 preproproteincollagen, type XVIII, alpha 1endostatinmulti-functional protein MFP | SNW domain-containing protein 1SKI interacting proteinhomolog of Drosophila BX42nuclear protein SkiPnuclear receptor coactivator NCoA-62nuclear receptor coactivator, 62-kDski-interacting protein | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | P39060 | Q13573 | |
| Ensembl transtripts involved in fusion gene | ENST00000400337, ENST00000355480, ENST00000359759, ENST00000459895, | ENST00000261531, ENST00000554775, ENST00000555761, | |
| Fusion gene scores | * DoF score | 8 X 8 X 6=384 | 15 X 4 X 12=720 |
| # samples | 8 | 16 | |
| ** MAII score | log2(8/384*10)=-2.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(16/720*10)=-2.16992500144231 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: COL18A1 [Title/Abstract] AND SNW1 [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 |
| Tgene | SNW1 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 14985122 |
| Tgene | SNW1 | GO:0000398 | mRNA splicing, via spliceosome | 15194481|28076346 |
| Tgene | SNW1 | GO:0030511 | positive regulation of transforming growth factor beta receptor signaling pathway | 11278756 |
| Tgene | SNW1 | GO:0043923 | positive regulation by host of viral transcription | 15905409 |
| Tgene | SNW1 | GO:0045892 | negative regulation of transcription, DNA-templated | 10713164|15878163 |
| Tgene | SNW1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 14985122|19934264 |
| Tgene | SNW1 | GO:0048384 | retinoic acid receptor signaling pathway | 19934264 |
| Tgene | SNW1 | GO:0048385 | regulation of retinoic acid receptor signaling pathway | 14985122 |
| Tgene | SNW1 | GO:0070562 | regulation of vitamin D receptor signaling pathway | 14985122 |
| Tgene | SNW1 | GO:0070564 | positive regulation of vitamin D receptor signaling pathway | 9632709|11514567 |
| Tgene | SNW1 | GO:0071300 | cellular response to retinoic acid | 19934264 |
| 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 | UCS | TCGA-N6-A4VG-01A | COL18A1 | chr21 | 46933633 | + | SNW1 | chr14 | 78189203 | - |
| * 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 | ENST00000400337 | ENST00000261531 | COL18A1 | chr21 | 46933633 | + | SNW1 | chr14 | 78189203 | - |
| 5CDS-intron | ENST00000400337 | ENST00000554775 | COL18A1 | chr21 | 46933633 | + | SNW1 | chr14 | 78189203 | - |
| 5CDS-intron | ENST00000400337 | ENST00000555761 | COL18A1 | chr21 | 46933633 | + | SNW1 | chr14 | 78189203 | - |
| 5CDS-intron | ENST00000355480 | ENST00000261531 | COL18A1 | chr21 | 46933633 | + | SNW1 | chr14 | 78189203 | - |
| 5CDS-intron | ENST00000355480 | ENST00000554775 | COL18A1 | chr21 | 46933633 | + | SNW1 | chr14 | 78189203 | - |
| 5CDS-intron | ENST00000355480 | ENST00000555761 | COL18A1 | chr21 | 46933633 | + | SNW1 | chr14 | 78189203 | - |
| 5CDS-intron | ENST00000359759 | ENST00000261531 | COL18A1 | chr21 | 46933633 | + | SNW1 | chr14 | 78189203 | - |
| 5CDS-intron | ENST00000359759 | ENST00000554775 | COL18A1 | chr21 | 46933633 | + | SNW1 | chr14 | 78189203 | - |
| 5CDS-intron | ENST00000359759 | ENST00000555761 | COL18A1 | chr21 | 46933633 | + | SNW1 | chr14 | 78189203 | - |
| intron-intron | ENST00000459895 | ENST00000261531 | COL18A1 | chr21 | 46933633 | + | SNW1 | chr14 | 78189203 | - |
| intron-intron | ENST00000459895 | ENST00000554775 | COL18A1 | chr21 | 46933633 | + | SNW1 | chr14 | 78189203 | - |
| intron-intron | ENST00000459895 | ENST00000555761 | COL18A1 | chr21 | 46933633 | + | SNW1 | chr14 | 78189203 | - |
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FusionProtFeatures for COL18A1_SNW1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| COL18A1 | SNW1 |
| Involved in pre-mRNA splicing as component of thespliceosome (PubMed:11991638, PubMed:28502770, PubMed:28076346).Is required in the specific splicing of CDKN1A pre-mRNA; thefunction probably involves the recruitment of U2AF2 to the mRNA.Is proposed to recruit PPIL1 to the spliceosome. May be involvedin cyclin-D1/CCND1 mRNA stability through the SNARP complex whichassociates with both the 3'end of the CCND1 gene and its mRNA.Involved in transcriptional regulation. Modulates TGF-beta-mediated transcription via association with SMAD proteins, MYOD1-mediated transcription via association with PABPN1, RB1-mediatedtranscriptional repression, and retinoid-X receptor (RXR)- andvitamin D receptor (VDR)-dependent gene transcription in a cellline-specific manner probably involving coactivators NCOA1 andGRIP1. Is involved in NOTCH1-mediated transcriptional activation.Binds to multimerized forms of Notch intracellular domain (NICD)and is proposed to recruit transcriptional coactivators such asMAML1 to form an intermediate preactivation complex whichassociates with DNA-bound CBF-1/RBPJ to form a transcriptionalactivation complex by releasing SNW1 and redundant NOTCH1 NICD.{ECO:0000269|PubMed:10644367, ECO:0000269|PubMed:11278756,ECO:0000269|PubMed:11371506, ECO:0000269|PubMed:11514567,ECO:0000269|PubMed:11991638, ECO:0000269|PubMed:12840015,ECO:0000269|PubMed:14985122, ECO:0000269|PubMed:15194481,ECO:0000269|PubMed:15905409, ECO:0000269|PubMed:18794151,ECO:0000269|PubMed:19818711, ECO:0000269|PubMed:21245387,ECO:0000269|PubMed:21460037, ECO:0000269|PubMed:28076346,ECO:0000269|PubMed:28502770, ECO:0000269|PubMed:9632709}. (Microbial infection) Is recruited by HIV-1 Tat toTat:P-TEFb:TAR RNA complexes and is involved in Tat transcriptionby recruitment of MYC, MEN1 and TRRAP to the HIV promoter.{ECO:0000269|PubMed:15905409, ECO:0000269|PubMed:19818711}. (Microbial infection) Proposed to be involved intranscriptional activation by EBV EBNA2 of CBF-1/RBPJ-repressedpromoters. {ECO:0000269|PubMed:10644367}. |
| 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 COL18A1_SNW1 |
| 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 COL18A1_SNW1 |
| 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 |
| COL18A1 | KDR, TECPR1, HNRNPD, FBXO6, TUBG1, FUS, TAZ, C1QTNF9, TMEM25, PTCH1, SIAE, COL8A2, LIPH, OLFM4, ITCH, PLOD1, MMP2, CRP, MMP9, DEFA1, TRIM11, C1QL4, APP | SNW1 | SKI, RBPJ, CIR1, HDAC2, SIN3A, NCOR2, SND1, NOTCH1, NOTCH3, ASCC2, RB1, RBL1, RBL2, SMAD2, SMAD3, SMAD4, SKIL, VDR, PABPN1, MYOD1, RXRA, NCOA2, NCOA1, TCEA2, CCNT1, MYC, CDK9, KMT2A, MEN1, IKBKG, PCBD2, TRIM15, ZSCAN1, SRRM1, NCOR1, EP300, TADA2A, PRPF8, UBR5, ZMAT3, EFTUD2, HNRNPU, DDB1, SFPQ, DDX23, CDC5L, HSPA5, PFKL, ABCF2, TUBB4A, EEF1G, EEF1A1, TUBB1, MSH2, NR0B1, NR0B2, ACTN2, CKAP5, MAPK6, TNNT1, VAV2, SIRT7, PRKAA2, CUL3, CUL2, DAXX, LNX1, MAGEA1, TOP1, PABPC1, CWC27, DHX38, SKIV2L2, DHX15, SNRPD2, DDX5, RAD21, EIF4A3, MAGOH, NHP2L1, SART1, CTNNBL1, XAB2, SNIP1, MFAP1, ZNF830, CXorf56, TTC14, HDAC11, HECW2, AURKB, TP53, TUBGCP3, GOLGA2, TRAF1, IKZF1, MTUS2, TFIP11, PPIL1, CEP55, TEX11, RINT1, LZTS2, KRT40, NXF1, MSL1, ZDHHC17, CUL7, OBSL1, SIRT1, RARA, SUZ12, RNF2, BMI1, OCLN, SNRPA1, DHX8, TSSC4, USB1, FHL3, PPIE, WDR83, CCDC94, LUC7L2, HSPB1, NTRK1, GCN1L1, HARS, HNRNPR, PFKM, PRPF4, SEPT2, SEPT7, SNRNP200, BUD31, CDC40, CRNKL1, PFKP, PLRG1, PRPF19, SARS, TRMT6, SYF2, TTC37, VARS, MUS81, KRAS, SF3B4, SYNCRIP, CPSF4, HNRNPA0, EBNA1BP2, CLP1, CPSF6, SRSF3, HNRNPA3, RBMX, CPSF1, HNRNPA1, HNRNPAB, HNRNPD, NCBP1, PCF11, LUC7L3, PPP2R1B, PRPF40A, METTL3, SRSF2, SRSF5, SRSF6, SNRPB2, RBM10, SRSF11, DDX46, PPP1CA, LOC102724594, BCAS2, SF3A1, CHERP, SF3A3, SF3B2, DDX42, U2AF2, HNRNPK, TRUB1, CSTF3, ELAVL1, XRN2, SNW1, U2SURP, TARDBP, SF3B3, SF3B1, PRPF6, FUS, HNRNPA2B1, HNRNPC, HNRNPF, HNRNPH1, HSPA8, HNRNPM, NONO, GEMIN4, PCBP1, SF3B6, CPSF3, EXOSC10, CPSF2, LUC7L, RBM4, SRSF1, SMN1, SMN2, SNRNP70, SNRPD3, U2AF1, CPSF7, RBM17, HNRNPLL, SNRNP40, RBM39, BZW1, PDCD6IP, SNUPN, ACTR1A, CDK3, STAG1, TUBB3, SEC23B, ARFGEF2, MAGED2, COPS6, CHD3, CHD4, WDR5, PKP3, KTI12, ARAP1, CSK, DCTN1, DDX1, DHX9, DOCK1, DOCK2, MLKL, CTTN, PUF60, ACIN1, WAPAL, XPO6, DNAJC13, SRRM2, GTPBP4, XRCC6, NIPBL, SEC31B, LDLRAP1, KIAA1279, ZNF326, BABAM1, GSPT1, OLA1, PIK3R4, IK, ILK, KPNA1, MLH1, ATM, PAK1, METTL13, CDK12, POLE, ATR, APBB1IP, ATRX, PPP2R1A, KIF27, UBE2Q1, CHD7, PRKAG1, ASUN, EXOC1, CAND1, MAP2K2, MAP2K3, LRRC47, TAOK1, PURA, WIZ, BLM, NCAPG, RBM15, YTHDC2, SRP19, AURKA, TTK, VASP, VRK1, NUP37, SPATA5L1, SHOC2, FIP1L1, DIAPH3, RIOK1, USP48, FYTTD1, RAE1, COPS3, API5, AP3B1, FUBP1, CPNE3, OTULIN, BCL7C, TRIP12, GNA14, AQR, CDK1, TOX4, G3BP2, NUP153, PSMC3, ACTB, SMC4, DNM1L, TUBB, ACTR2, RAD50, TRAP1, TUBA4A, PSMC6, DDX39A, PAK4, TUBB4B, NDC80, DCTN2, CCT7, CCT4, CCT2, EXOC5, KHDRBS1, CCT8, NUDC, SEPT9, TUBGCP2, RUVBL2, SUGT1, EHD1, KIF2C, CHEK1, DDX19B, PSMC1, RBM45, COPA, COPB1, CSE1L, AP1B1, SPATA5, DFNA5, DIAPH1, DYNC1LI2, DNM2, DSP, FASN, LRWD1, FEN1, COPG1, RALY, CCT5, CNOT1, MDN1, EXOC7, SMCHD1, NCAPH, ORC6, ORC3, KIF4A, HSPA12A, INTS1, PHGDH, VPS33B, COPG2, ZNF638, FHOD1, RACGAP1, MSH6, PARVB, HDLBP, HELLS, EHD4, DNAJA1, HSP90AA1, HSP90AB1, HSPD1, ARCN1, KIF11, KPNB1, KPNA2, LIMS1, LMNA, MRE11A, MYH9, NBN, DRG1, NSF, ORC2, ORC4, ORC5, UCHL5, DDX41, GULP1, RTCB, PLEC, PLK1, PNN, POLD1, ANLN, RIF1, FANCI, DDX19A, ABCF3, WDR33, CDKN2AIP, KIF21A, FERMT1, LRRC40, SCYL2, NSUN5, IPO9, ENAH, PARVA, EXOC2, PKN2, UNC45A, PRKDC, MAP2K7, RAD18, SMARCAD1, PSMC2, PSMC4, PSMC5, PSMD1, PSMD2, PSMD3, PSMD11, PSMD12, PSMD13, WDR18, TWF1, SHROOM3, CHD8, RANBP2, RANGAP1, RBBP5, RBBP7, UPF1, RFC2, RFC3, RFC4, RFC5, EXOC4, RPA1, SRSF7, ANAPC1, EPS8L2, FAM129B, INTS3, HLTF, SPTAN1, SPTBN1, SRP54, SRP68, SRP72, TCP1, BUB1, BUB1B, TLN1, TMPO, HSP90B1, CCT3, TUBG1, UBE2N, VIM, AHNAK, DDX39B, CDC73, UBA5, MYO15B, SYMPK, SEH1L, CAPG, SMC1A, UBL4A, ARID1A, CAPZA1, PICALM, EPPK1, NUF2, MAD1L1, CUL1, SMARCA5, RUVBL1, CDC23, IQGAP1, CCNB1, HIP1R, UBE2M, BTAF1, CCT6A, SMC3, ARHGEF1, DEPDC7, ARHGEF2, BUB3, PDLIM7, TRIP13, ROCK2, CHD1L, NUP155, NCAPD2, OXSR1, CDC27, MVP, TUBA1B, EXOC3, SNRPE, DVL3, ELAVL2, C11orf57, SNRPG, KIAA1143, SNRPF, ZC3H18, CD2BP2, EAPP |
| - 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 COL18A1_SNW1 |
| 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 COL18A1_SNW1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | COL18A1 | C0006663 | Calcinosis | 1 | CTD_human |
| Hgene | COL18A1 | C0018824 | Heart valve disease | 1 | CTD_human |
| Hgene | COL18A1 | C0018923 | Hemangiosarcoma | 1 | CTD_human |
| Hgene | COL18A1 | C3714756 | Intellectual Disability | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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