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Fusion gene ID: 16081 |
FusionGeneSummary for HELZ_PTPRN |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: HELZ_PTPRN | Fusion gene ID: 16081 | Hgene | Tgene | Gene symbol | HELZ | PTPRN | Gene ID | 9931 | 5798 |
| Gene name | helicase with zinc finger | protein tyrosine phosphatase, receptor type N | |
| Synonyms | DHRC|DRHC|HUMORF5 | IA-2|IA-2/PTP|IA2|ICA512|R-PTP-N | |
| Cytomap | 17q24.2 | 2q35 | |
| Type of gene | protein-coding | protein-coding | |
| Description | probable helicase with zinc finger domaindown-regulated in human cancers proteinhelicase with zinc finger domain | receptor-type tyrosine-protein phosphatase-like NICA 512PTP IA-2insulinoma-associated tyrosine-phosphatase-like proteinislet cell antigen 2islet cell antigen 512islet cell autoantigen 3protein tyrosine phosphatase-like N | |
| Modification date | 20180526 | 20180522 | |
| UniProtAcc | P42694 | Q16849 | |
| Ensembl transtripts involved in fusion gene | ENST00000358691, ENST00000580168, ENST00000580662, | ENST00000409251, ENST00000295718, ENST00000423636, ENST00000497977, | |
| Fusion gene scores | * DoF score | 17 X 16 X 7=1904 | 2 X 2 X 1=4 |
| # samples | 17 | 2 | |
| ** MAII score | log2(17/1904*10)=-3.48542682717024 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/4*10)=2.32192809488736 | |
| Context | PubMed: HELZ [Title/Abstract] AND PTPRN [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 | PTPRN | GO:0000302 | response to reactive oxygen species | 18048354 |
| Tgene | PTPRN | GO:0045944 | positive regulation of transcription by RNA polymerase II | 15596545 |
| Tgene | PTPRN | GO:1904692 | positive regulation of type B pancreatic cell proliferation | 18178618 |
| 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 | BP389573 | HELZ | chr17 | 65149848 | + | PTPRN | chr2 | 220154559 | - |
| * 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 | ENST00000358691 | ENST00000409251 | HELZ | chr17 | 65149848 | + | PTPRN | chr2 | 220154559 | - |
| intron-3UTR | ENST00000358691 | ENST00000295718 | HELZ | chr17 | 65149848 | + | PTPRN | chr2 | 220154559 | - |
| intron-intron | ENST00000358691 | ENST00000423636 | HELZ | chr17 | 65149848 | + | PTPRN | chr2 | 220154559 | - |
| intron-intron | ENST00000358691 | ENST00000497977 | HELZ | chr17 | 65149848 | + | PTPRN | chr2 | 220154559 | - |
| intron-3UTR | ENST00000580168 | ENST00000409251 | HELZ | chr17 | 65149848 | + | PTPRN | chr2 | 220154559 | - |
| intron-3UTR | ENST00000580168 | ENST00000295718 | HELZ | chr17 | 65149848 | + | PTPRN | chr2 | 220154559 | - |
| intron-intron | ENST00000580168 | ENST00000423636 | HELZ | chr17 | 65149848 | + | PTPRN | chr2 | 220154559 | - |
| intron-intron | ENST00000580168 | ENST00000497977 | HELZ | chr17 | 65149848 | + | PTPRN | chr2 | 220154559 | - |
| intron-3UTR | ENST00000580662 | ENST00000409251 | HELZ | chr17 | 65149848 | + | PTPRN | chr2 | 220154559 | - |
| intron-3UTR | ENST00000580662 | ENST00000295718 | HELZ | chr17 | 65149848 | + | PTPRN | chr2 | 220154559 | - |
| intron-intron | ENST00000580662 | ENST00000423636 | HELZ | chr17 | 65149848 | + | PTPRN | chr2 | 220154559 | - |
| intron-intron | ENST00000580662 | ENST00000497977 | HELZ | chr17 | 65149848 | + | PTPRN | chr2 | 220154559 | - |
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FusionProtFeatures for HELZ_PTPRN |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| HELZ | PTPRN |
| May act as a helicase that plays a role in RNAmetabolism in multiple tissues and organs within the developingembryo. | Plays a role in vesicle-mediated secretory processes(PubMed:24843546). Required for normal accumulation of secretoryvesicles in hippocampus, pituitary and pancreatic islets (Bysimilarity). Required for the accumulation of normal levels ofinsulin-containing vesicles and preventing their degradation(PubMed:24843546). Plays a role in insulin secretion in responseto glucose stimuli (PubMed:24843546). Required for normalaccumulation of the neurotransmitters norepinephrine, dopamine andserotonin in the brain (By similarity). In females, but not inmales, required for normal accumulation and secretion of pituitaryhormones, such as luteinizing hormone (LH) and follicle-stimulating hormone (FSH) (By similarity). Required to maintainnormal levels of renin expression and renin release (Bysimilarity). Seems to lack intrinsic enzyme activity (Bysimilarity). May regulate catalytic active protein-tyrosinephosphatases such as PTPRA through dimerization (By similarity).{ECO:0000250|UniProtKB:Q60673, ECO:0000269|PubMed:24843546}. ICA512-transmembrane fragment: ICA512-TMF regulatesdynamics and exocytosis of insulin secretory granules (SGs);binding of ICA512-TMF to SNTB2/beta-2-syntrophin is proposed torestrain SGs mobility and exocytosis by tethering them to theactin cytoskeleton depending on UTRN; the function is inhibited bycytoplasmic ICA512-CFF dimerizing with ICA512-TMF and displacingSNTB2. {ECO:0000269|PubMed:18824546, ECO:0000269|PubMed:20886068}. ICA512-cleaved cytosolic fragment: ICA512-CCFtranslocated to the nucleus promotes expression of insulin andother granule-related genes; the function implicates binding toand regulating activity of STAT5B probably by preventing itsdephosphorylation and potentially by inducing its sumoylation byrecruiting PIAS4 (PubMed:15596545, PubMed:16622421,PubMed:18178618). Enhances pancreatic beta-cell proliferation byconverging with signaling by STAT5B and STAT3 (PubMed:15596545,PubMed:16622421, PubMed:18178618). ICA512-CCF located in thecytoplasm regulates dynamics and exocytosis of insulin secretorygranules (SGs) by dimerizing with ICA512-TMF and displacing SNTB2thus enhancing SGs mobility and exocytosis (PubMed:18824546,PubMed:20886068). {ECO:0000269|PubMed:15596545,ECO:0000269|PubMed:16622421, ECO:0000269|PubMed:18178618,ECO:0000269|PubMed:18824546, ECO:0000269|PubMed:20886068}. |
| 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 HELZ_PTPRN |
| 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 HELZ_PTPRN |
| 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 HELZ_PTPRN |
| 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 HELZ_PTPRN |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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