|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 11988 |
FusionGeneSummary for ERCC6_CEP350 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ERCC6_CEP350 | Fusion gene ID: 11988 | Hgene | Tgene | Gene symbol | ERCC6 | CEP350 | Gene ID | 2074 | 9857 |
| Gene name | ERCC excision repair 6, chromatin remodeling factor | centrosomal protein 350 | |
| Synonyms | ARMD5|CKN2|COFS|COFS1|CSB|CSB-PGBD3|POF11|RAD26|UVSS1 | CAP350|GM133 | |
| Cytomap | 10q11.23 | 1q25.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | DNA excision repair protein ERCC-6ERCC6-PGBD3 fusion proteinATP-dependent helicase ERCC6Chimeric CSB-PGBD3 proteinChimeric ERCC6-PGBD3 proteinCockayne syndrome group B proteincockayne syndrome protein CSBexcision repair cross-complementation group | centrosome-associated protein 350centrosomal protein 350kDa | |
| Modification date | 20180519 | 20180522 | |
| UniProtAcc | Q03468 | Q5VT06 | |
| Ensembl transtripts involved in fusion gene | ENST00000355832, ENST00000542458, ENST00000465653, | ENST00000367607, ENST00000490141, | |
| Fusion gene scores | * DoF score | 3 X 3 X 2=18 | 4 X 4 X 1=16 |
| # samples | 3 | 4 | |
| ** MAII score | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(4/16*10)=1.32192809488736 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: ERCC6 [Title/Abstract] AND CEP350 [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 | ERCC6 | GO:0006979 | response to oxidative stress | 16107709 |
| Hgene | ERCC6 | GO:0009411 | response to UV | 16916636 |
| Hgene | ERCC6 | GO:0032784 | regulation of DNA-templated transcription, elongation | 9326587 |
| Hgene | ERCC6 | GO:0032786 | positive regulation of DNA-templated transcription, elongation | 9326587 |
| 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 | BF094116 | ERCC6 | chr10 | 50678306 | + | CEP350 | chr1 | 180081105 | - |
| * 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-3UTR | ENST00000355832 | ENST00000367607 | ERCC6 | chr10 | 50678306 | + | CEP350 | chr1 | 180081105 | - |
| intron-intron | ENST00000355832 | ENST00000490141 | ERCC6 | chr10 | 50678306 | + | CEP350 | chr1 | 180081105 | - |
| intron-3UTR | ENST00000542458 | ENST00000367607 | ERCC6 | chr10 | 50678306 | + | CEP350 | chr1 | 180081105 | - |
| intron-intron | ENST00000542458 | ENST00000490141 | ERCC6 | chr10 | 50678306 | + | CEP350 | chr1 | 180081105 | - |
| intron-3UTR | ENST00000465653 | ENST00000367607 | ERCC6 | chr10 | 50678306 | + | CEP350 | chr1 | 180081105 | - |
| intron-intron | ENST00000465653 | ENST00000490141 | ERCC6 | chr10 | 50678306 | + | CEP350 | chr1 | 180081105 | - |
Top |
FusionProtFeatures for ERCC6_CEP350 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ERCC6 | CEP350 |
| Essential factor involved in transcription-couplednucleotide excision repair which allows RNA polymerase II-blockinglesions to be rapidly removed from the transcribed strand ofactive genes. Upon DNA-binding, it locally modifies DNAconformation by wrapping the DNA around itself, thereby modifyingthe interface between stalled RNA polymerase II and DNA. It isrequired for transcription-coupled repair complex formation. Itrecruits the CSA complex (DCX(ERCC8) complex), nucleotide excisionrepair proteins and EP300 to the at sites of RNA polymerase II-blocking lesions. {ECO:0000269|PubMed:15548521,ECO:0000269|PubMed:16916636, ECO:0000269|PubMed:20541997,ECO:0000269|PubMed:22483866}. | Plays an essential role in centriole growth bystabilizing a procentriolar seed composed of at least, SASS6 andCENPJ (PubMed:19052644). Required for anchoring microtubules tothe centrosomes and for the integrity of the microtubule network(PubMed:16314388, PubMed:17878239, PubMed:28659385). RecruitsPPARA to discrete subcellular compartments and thereby modulatesPPARA activity (PubMed:15615782). Required for ciliation(PubMed:28659385). {ECO:0000269|PubMed:15615782,ECO:0000269|PubMed:16314388, ECO:0000269|PubMed:17878239,ECO:0000269|PubMed:19052644, ECO:0000269|PubMed:28659385}. |
| 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 ERCC6_CEP350 |
| 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 ERCC6_CEP350 |
| 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 |
Top |
RelatedDrugs for ERCC6_CEP350 |
| 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 ERCC6_CEP350 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | ERCC6 | C0009207 | Cockayne Syndrome | 6 | CTD_human |
| Hgene | ERCC6 | C0025958 | Microcephaly | 2 | CTD_human |
| Hgene | ERCC6 | C0751038 | Cockayne Syndrome, Type II | 2 | ORPHANET;UNIPROT |
| Hgene | ERCC6 | C0003886 | Arthrogryposis | 1 | CTD_human;HPO |
| Hgene | ERCC6 | C0018273 | Growth Disorders | 1 | CTD_human |
| Hgene | ERCC6 | C0024121 | Lung Neoplasms | 1 | CTD_human |
| Hgene | ERCC6 | C0026010 | Microphthalmos | 1 | CTD_human;HPO |
| Hgene | ERCC6 | C0033922 | Psychomotor Disorders | 1 | CTD_human |
| Hgene | ERCC6 | C0086543 | Cataract | 1 | CTD_human;HPO |
| Hgene | ERCC6 | C0220722 | Cerebrooculofacioskeletal Syndrome 1 | 1 | CTD_human;ORPHANET;UNIPROT |
| Hgene | ERCC6 | C0231341 | Premature aging syndrome | 1 | CTD_human |
| Hgene | ERCC6 | C0242383 | Age related macular degeneration | 1 | CTD_human |
| Hgene | ERCC6 | C0265201 | De Sanctis-Cacchione syndrome | 1 | CTD_human |
| Hgene | ERCC6 | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
| Hgene | ERCC6 | C1384666 | hearing impairment | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|