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Fusion gene ID: 15830 |
FusionGeneSummary for HARBI1_PTPRS |
Fusion gene summary |
Fusion gene information | Fusion gene name: HARBI1_PTPRS | Fusion gene ID: 15830 | Hgene | Tgene | Gene symbol | HARBI1 | PTPRS | Gene ID | 283254 | 5802 |
Gene name | harbinger transposase derived 1 | protein tyrosine phosphatase, receptor type S | |
Synonyms | C11orf77 | PTPSIGMA|R-PTP-S|R-PTP-sigma | |
Cytomap | 11p11.2 | 19p13.3 | |
Type of gene | protein-coding | protein-coding | |
Description | putative nuclease HARBI1harbinger transposase-derived nuclease | receptor-type tyrosine-protein phosphatase Sprotein tyrosine phosphatase PTPsigmareceptor-type tyrosine-protein phosphatase sigma | |
Modification date | 20180519 | 20180519 | |
UniProtAcc | Q96MB7 | Q13332 | |
Ensembl transtripts involved in fusion gene | ENST00000326737, | ENST00000588552, ENST00000262963, ENST00000372412, ENST00000348075, ENST00000357368, ENST00000353284, ENST00000587303, ENST00000588012, ENST00000592099, ENST00000590509, | |
Fusion gene scores | * DoF score | 2 X 1 X 2=4 | 5 X 5 X 5=125 |
# samples | 3 | 5 | |
** MAII score | log2(3/4*10)=2.90689059560852 | log2(5/125*10)=-1.32192809488736 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: HARBI1 [Title/Abstract] AND PTPRS [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 |
Tgene | PTPRS | GO:0006470 | protein dephosphorylation | 8524829 |
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 | GBM | TCGA-14-0789-01A | HARBI1 | chr11 | 46637118 | - | PTPRS | chr19 | 5246056 | - |
* 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 |
5CDS-5UTR | ENST00000326737 | ENST00000588552 | HARBI1 | chr11 | 46637118 | - | PTPRS | chr19 | 5246056 | - |
5CDS-5UTR | ENST00000326737 | ENST00000262963 | HARBI1 | chr11 | 46637118 | - | PTPRS | chr19 | 5246056 | - |
5CDS-5UTR | ENST00000326737 | ENST00000372412 | HARBI1 | chr11 | 46637118 | - | PTPRS | chr19 | 5246056 | - |
5CDS-5UTR | ENST00000326737 | ENST00000348075 | HARBI1 | chr11 | 46637118 | - | PTPRS | chr19 | 5246056 | - |
5CDS-5UTR | ENST00000326737 | ENST00000357368 | HARBI1 | chr11 | 46637118 | - | PTPRS | chr19 | 5246056 | - |
5CDS-5UTR | ENST00000326737 | ENST00000353284 | HARBI1 | chr11 | 46637118 | - | PTPRS | chr19 | 5246056 | - |
5CDS-5UTR | ENST00000326737 | ENST00000587303 | HARBI1 | chr11 | 46637118 | - | PTPRS | chr19 | 5246056 | - |
5CDS-5UTR | ENST00000326737 | ENST00000588012 | HARBI1 | chr11 | 46637118 | - | PTPRS | chr19 | 5246056 | - |
5CDS-5UTR | ENST00000326737 | ENST00000592099 | HARBI1 | chr11 | 46637118 | - | PTPRS | chr19 | 5246056 | - |
5CDS-intron | ENST00000326737 | ENST00000590509 | HARBI1 | chr11 | 46637118 | - | PTPRS | chr19 | 5246056 | - |
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FusionProtFeatures for HARBI1_PTPRS |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
HARBI1 | PTPRS |
Transposase-derived protein that may have nucleaseactivity (Potential). Does not have transposase activity.{ECO:0000269|PubMed:15169610, ECO:0000269|PubMed:18339812,ECO:0000305}. | Cell surface receptor that binds to glycosaminoglycans,including chondroitin sulfate proteoglycans and heparan sulfateproteoglycan (PubMed:21454754). Binding to chondroitin sulfate andheparan sulfate proteoglycans has opposite effects on PTPRSoligomerization and regulation of neurite outgrowth. Contributesto the inhibition of neurite and axonal outgrowth by chondroitinsulfate proteoglycans, also after nerve transection. Plays a rolein stimulating neurite outgrowth in response to the heparansulfate proteoglycan GPC2. Required for normal brain development,especially for normal development of the pituitary gland and theolfactory bulb. Functions as tyrosine phosphatase(PubMed:8524829). Mediates dephosphorylation of NTRK1, NTRK2 andNTRK3 (By similarity). Plays a role in down-regulation ofsignaling cascades that lead to the activation of Akt and MAPkinases (By similarity). Down-regulates TLR9-mediated activationof NF-kappa-B, as well as production of TNF, interferon alpha andinterferon beta (PubMed:26231120). {ECO:0000250|UniProtKB:B0V2N1,ECO:0000250|UniProtKB:F1NWE3, ECO:0000269|PubMed:21454754,ECO:0000269|PubMed:26231120, ECO:0000269|PubMed:8524829}. |
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 HARBI1_PTPRS |
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 HARBI1_PTPRS |
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 |
HARBI1 | NAIF1 | PTPRS | EIF4A2, CHD3, FEZ1, PFN2, UTP14A, SETDB1, MOB4, KAT5, TUBB2A, UBR1, PTN, EEF1G, KIAA1377, UNC119, PPFIA1, PTPRD, PPFIA2, PPFIA3, RYK, FBXO6, HLA-DPA1, CEACAM21, TMEM231, TGFBR2, GINM1, MMP3, TNF, HEPACAM2, NTRK1, TRIO, PTPRF, CASKIN2, NTRK3, PCDH12, CLU, LRRIQ1, SLC39A5, PCDHGB1, FKBP9, TNFSF8, KLRG2, MRAP2, LIPG, FCGRT, CRP, C16orf58, MANSC1, IL13RA2, STX11, ARRDC3, TMEM30B, TRIM25 |
- 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 HARBI1_PTPRS |
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 |
Tgene | PTPRS | Q13332 | DB00630 | Alendronic acid | Receptor-type tyrosine-protein phosphatase S | small molecule | approved |
Tgene | PTPRS | Q13332 | DB01077 | Etidronic acid | Receptor-type tyrosine-protein phosphatase S | small molecule | approved |
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RelatedDiseases for HARBI1_PTPRS |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |