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Fusion gene ID: 16782 |
FusionGeneSummary for HS3ST1_EXD2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: HS3ST1_EXD2 | Fusion gene ID: 16782 | Hgene | Tgene | Gene symbol | HS3ST1 | EXD2 | Gene ID | 9957 | 55218 |
| Gene name | heparan sulfate-glucosamine 3-sulfotransferase 1 | exonuclease 3'-5' domain containing 2 | |
| Synonyms | 3OST|3OST1 | C14orf114|EXDL2 | |
| Cytomap | 4p15.33 | 14q24.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | heparan sulfate glucosamine 3-O-sulfotransferase 13-OST-1h3-OST-1heparan sulfate (glucosamine) 3-O-sulfotransferase 1heparan sulfate 3-O-sulfotransferase 1heparan sulfate D-glucosaminyl 3-O-sulfotransferase 1heparin-glucosamine 3-O-sulfotransferase | exonuclease 3'-5' domain-containing protein 2exonuclease 3'-5' domain-like 2exonuclease 3'-5' domain-like-containing protein 2 | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | O14792 | Q9NVH0 | |
| Ensembl transtripts involved in fusion gene | ENST00000002596, | ENST00000409018, ENST00000492815, ENST00000409014, ENST00000409675, ENST00000409949, ENST00000409242, ENST00000312994, ENST00000449989, | |
| Fusion gene scores | * DoF score | 2 X 1 X 2=4 | 4 X 4 X 3=48 |
| # samples | 2 | 5 | |
| ** MAII score | log2(2/4*10)=2.32192809488736 | log2(5/48*10)=0.0588936890535686 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: HS3ST1 [Title/Abstract] AND EXD2 [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 | EXD2 | GO:0000724 | double-strand break repair via homologous recombination | 26807646 |
| Tgene | EXD2 | GO:0000729 | DNA double-strand break processing | 26807646 |
| Tgene | EXD2 | GO:0006302 | double-strand break repair | 26807646 |
| Tgene | EXD2 | GO:0090305 | nucleic acid phosphodiester bond hydrolysis | 26807646 |
| 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 | DA418439 | HS3ST1 | chr4 | 11430323 | - | EXD2 | chr14 | 69676138 | + |
| * 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-5UTR | ENST00000002596 | ENST00000409018 | HS3ST1 | chr4 | 11430323 | - | EXD2 | chr14 | 69676138 | + |
| 5UTR-3UTR | ENST00000002596 | ENST00000492815 | HS3ST1 | chr4 | 11430323 | - | EXD2 | chr14 | 69676138 | + |
| 5UTR-5UTR | ENST00000002596 | ENST00000409014 | HS3ST1 | chr4 | 11430323 | - | EXD2 | chr14 | 69676138 | + |
| 5UTR-intron | ENST00000002596 | ENST00000409675 | HS3ST1 | chr4 | 11430323 | - | EXD2 | chr14 | 69676138 | + |
| 5UTR-5UTR | ENST00000002596 | ENST00000409949 | HS3ST1 | chr4 | 11430323 | - | EXD2 | chr14 | 69676138 | + |
| 5UTR-5UTR | ENST00000002596 | ENST00000409242 | HS3ST1 | chr4 | 11430323 | - | EXD2 | chr14 | 69676138 | + |
| 5UTR-5UTR | ENST00000002596 | ENST00000312994 | HS3ST1 | chr4 | 11430323 | - | EXD2 | chr14 | 69676138 | + |
| 5UTR-intron | ENST00000002596 | ENST00000449989 | HS3ST1 | chr4 | 11430323 | - | EXD2 | chr14 | 69676138 | + |
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FusionProtFeatures for HS3ST1_EXD2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| HS3ST1 | EXD2 |
| Sulfotransferase that utilizes 3'-phospho-5'-adenylylsulfate (PAPS) to catalyze the transfer of a sulfo group toposition 3 of glucosamine residues in heparan. Catalyzes the ratelimiting step in the biosynthesis of heparan sulfate (HSact). Thismodification is a crucial step in the biosynthesis ofanticoagulant heparan sulfate as it completes the structure of theantithrombin pentasaccharide binding site.{ECO:0000269|PubMed:9346953}. | Exonuclease required for double-strand breaks resectionand efficient homologous recombination. Plays a key role incontrolling the initial steps of chromosomal break repair, it isrecruited to chromatin in a damage-dependent manner andfunctionally interacts with the MRN complex to accelerateresection through its 3'-5' exonuclease activity, whichefficiently processes double-stranded DNA substrates containingnicks. {ECO:0000269|PubMed:20603073, ECO:0000269|PubMed:26807646}. |
| 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 HS3ST1_EXD2 |
| 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 HS3ST1_EXD2 |
| 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 |
| HS3ST1 | APP, LGR4 | EXD2 | CCDC8, PEX19, DCTN2, GRAMD3, NTRK1, HERC2, RBBP8, BRCA1, MRE11A, NME3, EVL, ASPH, CLPX |
| - 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 HS3ST1_EXD2 |
| 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 HS3ST1_EXD2 |
| 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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