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Fusion gene ID: 34869 |
FusionGeneSummary for SMC6_PTPRA |
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Fusion gene information | Fusion gene name: SMC6_PTPRA | Fusion gene ID: 34869 | Hgene | Tgene | Gene symbol | SMC6 | PTPRA | Gene ID | 79677 | 5786 |
Gene name | structural maintenance of chromosomes 6 | protein tyrosine phosphatase, receptor type A | |
Synonyms | SMC-6|SMC6L1|hSMC6 | HEPTP|HLPR|HPTPA|HPTPalpha|LRP|PTPA|PTPRL2|R-PTP-alpha|RPTPA | |
Cytomap | 2p24.2 | 20p13 | |
Type of gene | protein-coding | protein-coding | |
Description | structural maintenance of chromosomes protein 6SMC protein 6SMC6 structural maintenance of chromosomes 6-like 1 | receptor-type tyrosine-protein phosphatase alphaLeukocyte common antigen-related peptide (protein tyrosine phosphate)PTPLCA-related phosphatasePTPase-alphaprotein tyrosine phosphatase, receptor type, alpha polypeptideprotein-tyrosine phosphatase alph | |
Modification date | 20180519 | 20180527 | |
UniProtAcc | Q96SB8 | P18433 | |
Ensembl transtripts involved in fusion gene | ENST00000402989, ENST00000448223, ENST00000351948, ENST00000381272, ENST00000489535, | ENST00000380393, ENST00000216877, ENST00000358719, ENST00000399903, ENST00000425918, ENST00000318266, ENST00000356147, | |
Fusion gene scores | * DoF score | 2 X 2 X 1=4 | 3 X 3 X 1=9 |
# samples | 2 | 3 | |
** MAII score | log2(2/4*10)=2.32192809488736 | log2(3/9*10)=1.73696559416621 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: SMC6 [Title/Abstract] AND PTPRA [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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | SMC6 | GO:0006974 | cellular response to DNA damage stimulus | 11408570|25931565 |
![]() (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 | DA756796 | SMC6 | chr2 | 17980902 | - | PTPRA | chr20 | 2903852 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * 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-5UTR | ENST00000402989 | ENST00000380393 | SMC6 | chr2 | 17980902 | - | PTPRA | chr20 | 2903852 | + |
5UTR-5UTR | ENST00000402989 | ENST00000216877 | SMC6 | chr2 | 17980902 | - | PTPRA | chr20 | 2903852 | + |
5UTR-5UTR | ENST00000402989 | ENST00000358719 | SMC6 | chr2 | 17980902 | - | PTPRA | chr20 | 2903852 | + |
5UTR-5UTR | ENST00000402989 | ENST00000399903 | SMC6 | chr2 | 17980902 | - | PTPRA | chr20 | 2903852 | + |
5UTR-5UTR | ENST00000402989 | ENST00000425918 | SMC6 | chr2 | 17980902 | - | PTPRA | chr20 | 2903852 | + |
5UTR-5UTR | ENST00000402989 | ENST00000318266 | SMC6 | chr2 | 17980902 | - | PTPRA | chr20 | 2903852 | + |
5UTR-5UTR | ENST00000402989 | ENST00000356147 | SMC6 | chr2 | 17980902 | - | PTPRA | chr20 | 2903852 | + |
intron-5UTR | ENST00000448223 | ENST00000380393 | SMC6 | chr2 | 17980902 | - | PTPRA | chr20 | 2903852 | + |
intron-5UTR | ENST00000448223 | ENST00000216877 | SMC6 | chr2 | 17980902 | - | PTPRA | chr20 | 2903852 | + |
intron-5UTR | ENST00000448223 | ENST00000358719 | SMC6 | chr2 | 17980902 | - | PTPRA | chr20 | 2903852 | + |
intron-5UTR | ENST00000448223 | ENST00000399903 | SMC6 | chr2 | 17980902 | - | PTPRA | chr20 | 2903852 | + |
intron-5UTR | ENST00000448223 | ENST00000425918 | SMC6 | chr2 | 17980902 | - | PTPRA | chr20 | 2903852 | + |
intron-5UTR | ENST00000448223 | ENST00000318266 | SMC6 | chr2 | 17980902 | - | PTPRA | chr20 | 2903852 | + |
intron-5UTR | ENST00000448223 | ENST00000356147 | SMC6 | chr2 | 17980902 | - | PTPRA | chr20 | 2903852 | + |
intron-5UTR | ENST00000351948 | ENST00000380393 | SMC6 | chr2 | 17980902 | - | PTPRA | chr20 | 2903852 | + |
intron-5UTR | ENST00000351948 | ENST00000216877 | SMC6 | chr2 | 17980902 | - | PTPRA | chr20 | 2903852 | + |
intron-5UTR | ENST00000351948 | ENST00000358719 | SMC6 | chr2 | 17980902 | - | PTPRA | chr20 | 2903852 | + |
intron-5UTR | ENST00000351948 | ENST00000399903 | SMC6 | chr2 | 17980902 | - | PTPRA | chr20 | 2903852 | + |
intron-5UTR | ENST00000351948 | ENST00000425918 | SMC6 | chr2 | 17980902 | - | PTPRA | chr20 | 2903852 | + |
intron-5UTR | ENST00000351948 | ENST00000318266 | SMC6 | chr2 | 17980902 | - | PTPRA | chr20 | 2903852 | + |
intron-5UTR | ENST00000351948 | ENST00000356147 | SMC6 | chr2 | 17980902 | - | PTPRA | chr20 | 2903852 | + |
intron-5UTR | ENST00000381272 | ENST00000380393 | SMC6 | chr2 | 17980902 | - | PTPRA | chr20 | 2903852 | + |
intron-5UTR | ENST00000381272 | ENST00000216877 | SMC6 | chr2 | 17980902 | - | PTPRA | chr20 | 2903852 | + |
intron-5UTR | ENST00000381272 | ENST00000358719 | SMC6 | chr2 | 17980902 | - | PTPRA | chr20 | 2903852 | + |
intron-5UTR | ENST00000381272 | ENST00000399903 | SMC6 | chr2 | 17980902 | - | PTPRA | chr20 | 2903852 | + |
intron-5UTR | ENST00000381272 | ENST00000425918 | SMC6 | chr2 | 17980902 | - | PTPRA | chr20 | 2903852 | + |
intron-5UTR | ENST00000381272 | ENST00000318266 | SMC6 | chr2 | 17980902 | - | PTPRA | chr20 | 2903852 | + |
intron-5UTR | ENST00000381272 | ENST00000356147 | SMC6 | chr2 | 17980902 | - | PTPRA | chr20 | 2903852 | + |
5UTR-5UTR | ENST00000489535 | ENST00000380393 | SMC6 | chr2 | 17980902 | - | PTPRA | chr20 | 2903852 | + |
5UTR-5UTR | ENST00000489535 | ENST00000216877 | SMC6 | chr2 | 17980902 | - | PTPRA | chr20 | 2903852 | + |
5UTR-5UTR | ENST00000489535 | ENST00000358719 | SMC6 | chr2 | 17980902 | - | PTPRA | chr20 | 2903852 | + |
5UTR-5UTR | ENST00000489535 | ENST00000399903 | SMC6 | chr2 | 17980902 | - | PTPRA | chr20 | 2903852 | + |
5UTR-5UTR | ENST00000489535 | ENST00000425918 | SMC6 | chr2 | 17980902 | - | PTPRA | chr20 | 2903852 | + |
5UTR-5UTR | ENST00000489535 | ENST00000318266 | SMC6 | chr2 | 17980902 | - | PTPRA | chr20 | 2903852 | + |
5UTR-5UTR | ENST00000489535 | ENST00000356147 | SMC6 | chr2 | 17980902 | - | PTPRA | chr20 | 2903852 | + |
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FusionProtFeatures for SMC6_PTPRA |
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Hgene | Tgene |
SMC6 | PTPRA |
Core component of the SMC5-SMC6 complex, a complexinvolved in DNA double-strand breaks by homologous recombination.The complex may promote sister chromatid homologous recombinationby recruiting the SMC1-SMC3 cohesin complex to double-strandbreaks. The complex is required for telomere maintenance viarecombination in ALT (alternative lengthening of telomeres) celllines and mediates sumoylation of shelterin complex (telosome)components which is proposed to lead to shelterin complexdisassembly in ALT-associated PML bodies (APBs). Required forrecruitment of telomeres to PML nuclear bodies. SMC5-SMC6 complexmay prevent transcription of episomal DNA, such as circular viralDNA genome (PubMed:26983541). {ECO:0000269|PubMed:16810316,ECO:0000269|PubMed:17589526, ECO:0000269|PubMed:26983541}. |
![]() * 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 SMC6_PTPRA |
![]() (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 SMC6_PTPRA |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for SMC6_PTPRA |
![]() (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 SMC6_PTPRA |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | PTPRA | C0036341 | Schizophrenia | 2 | PSYGENET |
Tgene | PTPRA | C0151744 | Myocardial Ischemia | 1 | CTD_human |