|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 30905 |
FusionGeneSummary for RECQL4_CPSF1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: RECQL4_CPSF1 | Fusion gene ID: 30905 | Hgene | Tgene | Gene symbol | RECQL4 | CPSF1 | Gene ID | 9401 | 29894 |
| Gene name | RecQ like helicase 4 | cleavage and polyadenylation specific factor 1 | |
| Synonyms | RECQ4 | CPSF160|HSU37012|P/cl.18 | |
| Cytomap | 8q24.3 | 8q24.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | ATP-dependent DNA helicase Q4DNA helicase, RecQ-like, type 4RecQ helicase-like 4RecQ protein-like 4 | cleavage and polyadenylation specificity factor subunit 1CPSF 160 kDa subunitcleavage and polyadenylation specific factor 1, 160kDacleavage and polyadenylation specificity factor 160 kDa subunitpolyadenylation specificity factor | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q10570 | ||
| Ensembl transtripts involved in fusion gene | ENST00000428558, ENST00000532237, | ENST00000349769, ENST00000531727, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 4 X 4 X 4=64 |
| # samples | 1 | 4 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(4/64*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: RECQL4 [Title/Abstract] AND CPSF1 [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 | RECQL4 | GO:0000733 | DNA strand renaturation | 19177149 |
| Hgene | RECQL4 | GO:0006260 | DNA replication | 19177149 |
| Hgene | RECQL4 | GO:0032508 | DNA duplex unwinding | 19177149 |
| Hgene | RECQL4 | GO:0061820 | telomeric D-loop disassembly | 22039056 |
| 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 | LD | BRCA | TCGA-AR-A1AY-01A | RECQL4 | chr8 | 145739406 | - | CPSF1 | chr8 | 145623429 | - |
| * 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-intron | ENST00000428558 | ENST00000349769 | RECQL4 | chr8 | 145739406 | - | CPSF1 | chr8 | 145623429 | - |
| intron-intron | ENST00000428558 | ENST00000531727 | RECQL4 | chr8 | 145739406 | - | CPSF1 | chr8 | 145623429 | - |
| intron-intron | ENST00000532237 | ENST00000349769 | RECQL4 | chr8 | 145739406 | - | CPSF1 | chr8 | 145623429 | - |
| intron-intron | ENST00000532237 | ENST00000531727 | RECQL4 | chr8 | 145739406 | - | CPSF1 | chr8 | 145623429 | - |
Top |
FusionProtFeatures for RECQL4_CPSF1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| RECQL4 | CPSF1 |
| 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}. | Component of the cleavage and polyadenylationspecificity factor (CPSF) complex that plays a key role in pre-mRNA 3'-end formation, recognizing the AAUAAA signal sequence andinteracting with poly(A) polymerase and other factors to bringabout cleavage and poly(A) addition. This subunit is involved inthe RNA recognition step of the polyadenylation reaction.{ECO:0000269|PubMed:14749727}. |
| 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 |
Top |
FusionGeneSequence for RECQL4_CPSF1 |
| 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). |
Top |
FusionGenePPI for RECQL4_CPSF1 |
| 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 |
| RECQL4 | PRSS23, RECQL5, EP300, TERF1, TERF2IP, ACD, POT1, UBR1, UBR2, SIRT1, PASK, KCTD17, FBL, LUC7L, MAPK14, SKAP1, FAM160B2, ARHGAP25, FOXL2, CDC16, NLGN3, NEUROG3, LZTS2, P4HA2, VWCE | CPSF1 | PRRC2A, CSTF2, COPS5, COPS2, CDC73, GLIS2, TBP, TAF7, TAF12, TAF5, CSTF3, PAPOLA, CSTF2T, SMARCAD1, SIRT7, CUL3, COPS6, POLR2A, CPSF2, CPSF3, FIP1L1, WDR33, RNPC3, GTF3C3, MED8, NPM1, TUT1, HMOX1, IL7R, HDAC6, ICK, CLK2, TARDBP, NEDD4, WWOX, RPA3, RPA2, RPA1, LGR4, STAU1, RBBP6, REL, MOV10, NXF1, CUL7, OBSL1, EZH2, EED, NTRK1, CHD3, CPSF4, PPP1CB, RANGAP1, SYMPK, GPS1, KIF21B, CEP170P1, SNW1, FBXW7, SSU72 |
| - 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 |
Top |
RelatedDrugs for RECQL4_CPSF1 |
| 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 |
Top |
RelatedDiseases for RECQL4_CPSF1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | RECQL4 | C0032339 | Rothmund-Thomson syndrome | 1 | CTD_human |
| Hgene | RECQL4 | C0265308 | Baller-Gerold syndrome | 1 | CTD_human;ORPHANET;UNIPROT |
| Tgene | CPSF1 | C0038356 | Stomach Neoplasms | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|