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Fusion gene ID: 35375 |
FusionGeneSummary for SON_XPC |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SON_XPC | Fusion gene ID: 35375 | Hgene | Tgene | Gene symbol | SON | XPC | Gene ID | 6651 | 7508 |
| Gene name | SON DNA binding protein | XPC complex subunit, DNA damage recognition and repair factor | |
| Synonyms | BASS1|C21orf50|DBP-5|NREBP|SON3|TOKIMS | RAD4|XP3|XPCC|p125 | |
| Cytomap | 21q22.11 | 3p25.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | protein SONBax antagonist selected in Saccharomyces 1NRE-binding proteinnegative regulatory element-binding protein | DNA repair protein complementing XP-C cellsmutant xeroderma pigmentosum group Cxeroderma pigmentosum, complementation group C | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | P18583 | Q01831 | |
| Ensembl transtripts involved in fusion gene | ENST00000356577, ENST00000290239, ENST00000381692, ENST00000300278, ENST00000381679, ENST00000470533, | ENST00000285021, ENST00000449060, | |
| Fusion gene scores | * DoF score | 7 X 6 X 3=126 | 4 X 4 X 3=48 |
| # samples | 7 | 4 | |
| ** MAII score | log2(7/126*10)=-0.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: SON [Title/Abstract] AND XPC [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 | SON | GO:0006397 | mRNA processing | 21504830 |
| Hgene | SON | GO:0043066 | negative regulation of apoptotic process | 10509013 |
| Hgene | SON | GO:0048024 | regulation of mRNA splicing, via spliceosome | 21504830 |
| Tgene | XPC | GO:0000715 | nucleotide-excision repair, DNA damage recognition | 10873465|19941824 |
| Tgene | XPC | GO:0006289 | nucleotide-excision repair | 8168482|9734359 |
| Tgene | XPC | GO:0070914 | UV-damage excision repair | 8077226 |
| 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 | AV736879 | SON | chr21 | 34915373 | - | XPC | chr3 | 14214540 | - |
| * 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 | ENST00000356577 | ENST00000285021 | SON | chr21 | 34915373 | - | XPC | chr3 | 14214540 | - |
| 5UTR-3CDS | ENST00000356577 | ENST00000449060 | SON | chr21 | 34915373 | - | XPC | chr3 | 14214540 | - |
| 5UTR-3CDS | ENST00000290239 | ENST00000285021 | SON | chr21 | 34915373 | - | XPC | chr3 | 14214540 | - |
| 5UTR-3CDS | ENST00000290239 | ENST00000449060 | SON | chr21 | 34915373 | - | XPC | chr3 | 14214540 | - |
| 5UTR-3CDS | ENST00000381692 | ENST00000285021 | SON | chr21 | 34915373 | - | XPC | chr3 | 14214540 | - |
| 5UTR-3CDS | ENST00000381692 | ENST00000449060 | SON | chr21 | 34915373 | - | XPC | chr3 | 14214540 | - |
| intron-3CDS | ENST00000300278 | ENST00000285021 | SON | chr21 | 34915373 | - | XPC | chr3 | 14214540 | - |
| intron-3CDS | ENST00000300278 | ENST00000449060 | SON | chr21 | 34915373 | - | XPC | chr3 | 14214540 | - |
| intron-3CDS | ENST00000381679 | ENST00000285021 | SON | chr21 | 34915373 | - | XPC | chr3 | 14214540 | - |
| intron-3CDS | ENST00000381679 | ENST00000449060 | SON | chr21 | 34915373 | - | XPC | chr3 | 14214540 | - |
| intron-3CDS | ENST00000470533 | ENST00000285021 | SON | chr21 | 34915373 | - | XPC | chr3 | 14214540 | - |
| intron-3CDS | ENST00000470533 | ENST00000449060 | SON | chr21 | 34915373 | - | XPC | chr3 | 14214540 | - |
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FusionProtFeatures for SON_XPC |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SON | XPC |
| Involved in global genome nucleotide excision repair(GG-NER) by acting as damage sensing and DNA-binding factorcomponent of the XPC complex. Has only a low DNA repair activityby itself which is stimulated by RAD23B and RAD23A. Has apreference to bind DNA containing a short single-stranded segmentbut not to damaged oligonucleotides. This feature is proposed tobe related to a dynamic sensor function: XPC can rapidly screenduplex DNA for non-hydrogen-bonded bases by forming a transientnucleoprotein intermediate complex which matures into a stablerecognition complex through an intrinsic single-stranded DNA-binding activity. The XPC complex is proposed to represent the firstfactor bound at the sites of DNA damage and together with othercore recognition factors, XPA, RPA and the TFIIH complex, is partof the pre-incision (or initial recognition) complex. The XPCcomplex recognizes a wide spectrum of damaged DNA characterized bydistortions of the DNA helix such as single-stranded loops,mismatched bubbles or single-stranded overhangs. The orientationof XPC complex binding appears to be crucial for inducing aproductive NER. XPC complex is proposed to recognize and tointeract with unpaired bases on the undamaged DNA strand which isfollowed by recruitment of the TFIIH complex and subsequentscanning for lesions in the opposite strand in a 5'-to-3'direction by the NER machinery. Cyclobutane pyrimidine dimers(CPDs) which are formed upon UV-induced DNA damage esacpedetection by the XPC complex due to a low degree of structuralperurbation. Instead they are detected by the UV-DDB complex whichin turn recruits and cooperates with the XPC complex in therespective DNA repair. In vitro, the XPC:RAD23B dimer issufficient to initiate NER; it preferentially binds to cisplatinand UV-damaged double-stranded DNA and also binds to a variety ofchemically and structurally diverse DNA adducts. XPC:RAD23Bcontacts DNA both 5' and 3' of a cisplatin lesion with apreference for the 5' side. XPC:RAD23B induces a bend in DNA uponbinding. XPC:RAD23B stimulates the activity of DNA glycosylasesTDG and SMUG1. |
| 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 SON_XPC |
| 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 SON_XPC |
| 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 |
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RelatedDrugs for SON_XPC |
| 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 SON_XPC |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | SON | C0010606 | Adenoid Cystic Carcinoma | 1 | CTD_human |
| Hgene | SON | C0036095 | Salivary Gland Neoplasms | 1 | CTD_human |
| Tgene | XPC | C2752147 | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C | 2 | CTD_human;UNIPROT |
| Tgene | XPC | C0002514 | Amino Acid Metabolism, Inborn Errors | 1 | CTD_human |
| Tgene | XPC | C0004352 | Autistic Disorder | 1 | CTD_human |
| Tgene | XPC | C0008625 | Chromosome Aberrations | 1 | CTD_human |
| Tgene | XPC | C0024121 | Lung Neoplasms | 1 | CTD_human |
| Tgene | XPC | C0152013 | Adenocarcinoma of lung (disorder) | 1 | CTD_human |
| Tgene | XPC | C1449861 | Micronuclei, Chromosome-Defective | 1 | CTD_human |
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