|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 8741 |
FusionGeneSummary for CTCF_HNRNPDL |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CTCF_HNRNPDL | Fusion gene ID: 8741 | Hgene | Tgene | Gene symbol | CTCF | HNRNPDL | Gene ID | 10664 | 9987 |
| Gene name | CCCTC-binding factor | heterogeneous nuclear ribonucleoprotein D like | |
| Synonyms | MRD21 | HNRNP|HNRPDL|JKTBP|JKTBP2|LGMD1G|laAUF1 | |
| Cytomap | 16q22.1 | 4q21.22 | |
| Type of gene | protein-coding | protein-coding | |
| Description | transcriptional repressor CTCF11 zinc finger transcriptional repressor11-zinc finger proteinCCCTC-binding factor (zinc finger protein)CTCFL paralog | heterogeneous nuclear ribonucleoprotein D-likeA+U-rich element RNA binding factorAU-rich element RNA-binding factorJKT41-binding proteinhnRNP D-likehnRNP DLprotein laAUF1 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | P49711 | O14979 | |
| Ensembl transtripts involved in fusion gene | ENST00000264010, ENST00000401394, | ENST00000295470, ENST00000349655, ENST00000602300, ENST00000502762, ENST00000514511, | |
| Fusion gene scores | * DoF score | 10 X 5 X 9=450 | 7 X 7 X 3=147 |
| # samples | 10 | 9 | |
| ** MAII score | log2(10/450*10)=-2.16992500144231 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(9/147*10)=-0.70781924850669 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: CTCF [Title/Abstract] AND HNRNPDL [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 | CTCF | GO:0000122 | negative regulation of transcription by RNA polymerase II | 8649389 |
| Hgene | CTCF | GO:0016584 | nucleosome positioning | 18654629 |
| Hgene | CTCF | GO:0045892 | negative regulation of transcription, DNA-templated | 8649389|18413740 |
| Hgene | CTCF | GO:0045893 | positive regulation of transcription, DNA-templated | 9407128 |
| 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 | ESCA | TCGA-V5-AASV-01A | CTCF | chr16 | 67605167 | + | HNRNPDL | chr4 | 83350565 | - |
| * 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 |
| 5UTR-3CDS | ENST00000264010 | ENST00000295470 | CTCF | chr16 | 67605167 | + | HNRNPDL | chr4 | 83350565 | - |
| 5UTR-5UTR | ENST00000264010 | ENST00000349655 | CTCF | chr16 | 67605167 | + | HNRNPDL | chr4 | 83350565 | - |
| 5UTR-5UTR | ENST00000264010 | ENST00000602300 | CTCF | chr16 | 67605167 | + | HNRNPDL | chr4 | 83350565 | - |
| 5UTR-5UTR | ENST00000264010 | ENST00000502762 | CTCF | chr16 | 67605167 | + | HNRNPDL | chr4 | 83350565 | - |
| 5UTR-5UTR | ENST00000264010 | ENST00000514511 | CTCF | chr16 | 67605167 | + | HNRNPDL | chr4 | 83350565 | - |
| 5UTR-3CDS | ENST00000401394 | ENST00000295470 | CTCF | chr16 | 67605167 | + | HNRNPDL | chr4 | 83350565 | - |
| 5UTR-5UTR | ENST00000401394 | ENST00000349655 | CTCF | chr16 | 67605167 | + | HNRNPDL | chr4 | 83350565 | - |
| 5UTR-5UTR | ENST00000401394 | ENST00000602300 | CTCF | chr16 | 67605167 | + | HNRNPDL | chr4 | 83350565 | - |
| 5UTR-5UTR | ENST00000401394 | ENST00000502762 | CTCF | chr16 | 67605167 | + | HNRNPDL | chr4 | 83350565 | - |
| 5UTR-5UTR | ENST00000401394 | ENST00000514511 | CTCF | chr16 | 67605167 | + | HNRNPDL | chr4 | 83350565 | - |
Top |
FusionProtFeatures for CTCF_HNRNPDL |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CTCF | HNRNPDL |
| Chromatin binding factor that binds to DNA sequencespecific sites. Involved in transcriptional regulation by bindingto chromatin insulators and preventing interaction betweenpromoter and nearby enhancers and silencers. Acts astranscriptional repressor binding to promoters of vertebrate MYCgene and BAG1 gene. Also binds to the PLK and PIM1 promoters. Actsas a transcriptional activator of APP. Regulates APOA1/C3/A4/A5gene cluster and controls MHC class II gene expression. Plays anessential role in oocyte and preimplantation embryo development byactivating or repressing transcription. Seems to act as tumorsuppressor. Plays a critical role in the epigenetic regulation.Participates in the allele-specific gene expression at theimprinted IGF2/H19 gene locus. On the maternal allele, bindingwithin the H19 imprinting control region (ICR) mediates maternallyinherited higher-order chromatin conformation to restrict enhanceraccess to IGF2. Plays a critical role in gene silencing overconsiderable distances in the genome. Preferentially interactswith unmethylated DNA, preventing spreading of CpG methylation andmaintaining methylation-free zones. Inversely, binding to targetsites is prevented by CpG methylation. Plays a important role inchromatin remodeling. Can dimerize when it is bound to differentDNA sequences, mediating long-range chromatin looping. Mediatesinterchromosomal association between IGF2/H19 and WSB1/NF1 and maydirect distant DNA segments to a common transcription factory.Causes local loss of histone acetylation and gain of histonemethylation in the beta-globin locus, without affectingtranscription. When bound to chromatin, it provides an anchorpoint for nucleosomes positioning. Seems to be essential forhomologous X-chromosome pairing. May participate with Tsix inestablishing a regulatable epigenetic switch for X chromosomeinactivation. May play a role in preventing the propagation ofstable methylation at the escape genes from X- inactivation.Involved in sister chromatid cohesion. Associates with bothcentromeres and chromosomal arms during metaphase and required forcohesin localization to CTCF sites. Regulates asynchronousreplication of IGF2/H19. Plays a role in the recruitment of CENPEto the pericentromeric/centromeric regions of the chromosomeduring mitosis (PubMed:26321640). {ECO:0000269|PubMed:11743158,ECO:0000269|PubMed:16815976, ECO:0000269|PubMed:17827499,ECO:0000269|PubMed:18347100, ECO:0000269|PubMed:18413740,ECO:0000269|PubMed:18550811, ECO:0000269|PubMed:18654629,ECO:0000269|PubMed:19322193, ECO:0000269|PubMed:26321640,ECO:0000269|PubMed:8649389, ECO:0000269|PubMed:9591631}. | Acts as a transcriptional regulator. Promotestranscription repression. Promotes transcription activation indifferentiated myotubes (By similarity). Binds to double- andsingle-stranded DNA sequences. Binds to the transcriptionsuppressor CATR sequence of the COX5B promoter (By similarity).Binds with high affinity to RNA molecules that contain AU-richelements (AREs) found within the 3'-UTR of many proto-oncogenesand cytokine mRNAs. Binds both to nuclear and cytoplasmic poly(A)mRNAs. Binds to poly(G) and poly(A), but not to poly(U) or poly(C)RNA homopolymers. Binds to the 5'-ACUAGC-3' RNA consensussequence. {ECO:0000250, ECO:0000269|PubMed:9538234}. |
| 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 CTCF_HNRNPDL |
| 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 CTCF_HNRNPDL |
| 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 |
| CTCF | YBX1, CHD8, CHD7, SUZ12, YY1, POLR2A, RAD21, SMC1A, SIN3A, SMAD3, TRB, RXRA, PARP1, NPM1, TOP2A, LMNA, KPNA4, KPNA2, HIST2H2AC, H2AFZ, SMC3, TAF3, SIRT7, TFAP4, CAND1, ZBTB33, CDK19, ZMYM2, KANSL1, ZMYM4, EED, BMI1, TOP2B, NCL, HIST1H1A, FBL, PRR11, IFI16, SET, CHMP4B, RHOU, TSSC1, H2AFX, ZCRB1, HIST1H1E, DGCR8, KIAA0020, ZBTB48, ZNF2, GLTSCR2, TRIM25 | HNRNPDL | ATIC, HGS, KHDRBS2, HNRNPA1, H2AFX, ICT1, VHL, ELAVL1, ERG, LRP1, CUL3, CUL4A, CUL4B, CUL5, CUL2, CUL1, COPS5, COPS6, DCUN1D1, CAND1, NEDD8, HNRNPA3, HNRNPH1, HNRNPM, DDX3X, HNRNPUL1, SRSF2, SNRNP70, HNRNPA2B1, U2AF2, SRSF3, PTBP1, HNRNPR, HNRNPF, SRSF9, SRSF1, EEF1A1, HNRNPH3, HNRNPL, ATP6V1B1, HNRNPH2, RPL36, EIF4H, LSM14A, HNRNPD, WIPF2, HNRNPA0, RMDN3, PDHA1, MRPS16, RPS7, PICALM, EEF2, UBE2S, BARD1, FN1, CSNK2A1, IFIT2, IFIT3, IL7R, ITGA4, HMGA1, FBXO6, TARDBP, PARK2, RPA3, RPA2, RPA1, HSPA5, SPRTN, CUL7, OBSL1, EED, RNF2, MARK3, FBXW11, PABPC4, YARS2, MTERF3, MRPL32, ERAL1, LARP1, MRPS9, NGRN, SUPV3L1, MRPL55, MALSU1, MRPL19, PAIP1, MCAT, MKRN2, CDKN2AIP, MRPL14, UNK, AHNAK, APMAP, ARMC1, FUS, NAA50, UBAP2L, UBE2G2, WDR12, STIP1, NTRK1, EWSR1, HNRNPU, MATR3, CRY2, NANOG, MRPS35, NR3C1, CYLD, COX15, DNM1L, HSD17B10, PARK7, VDAC1, UBE2A, BRCA1 |
| - 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 CTCF_HNRNPDL |
| 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 CTCF_HNRNPDL |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | CTCF | C0036341 | Schizophrenia | 1 | PSYGENET |
| Hgene | CTCF | C0079773 | Lymphoma, T-Cell, Cutaneous | 1 | CTD_human |
| Hgene | CTCF | C1860789 | Leukemia, Megakaryoblastic, of Down Syndrome | 1 | CTD_human |
| Hgene | CTCF | C3809686 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 | 1 | ORPHANET;UNIPROT |
| Tgene | HNRNPDL | C1836765 | LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 1G (disorder) | 1 | ORPHANET;UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|