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Fusion gene ID: 12337 |
FusionGeneSummary for EXTL2_DPH5 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: EXTL2_DPH5 | Fusion gene ID: 12337 | Hgene | Tgene | Gene symbol | EXTL2 | DPH5 | Gene ID | 2135 | 51611 |
| Gene name | exostosin like glycosyltransferase 2 | diphthamide biosynthesis 5 | |
| Synonyms | EXTR2 | AD-018|CGI-30|HSPC143|NPD015 | |
| Cytomap | 1p21.2 | 1p21.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | exostosin-like 2EXT-related protein 2alpha-1,4-N-acetylhexosaminyltransferase EXTL2alpha-GalNAcT EXTL2exostoses (multiple)-like 2glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferaseprocessed exostosin-like 2 | diphthine methyl ester synthaseDPH5 homologdiphthamide biosynthesis methyltransferasediphthine synthaseprotein x 0011 | |
| Modification date | 20180519 | 20180519 | |
| UniProtAcc | Q9UBQ6 | Q9H2P9 | |
| Ensembl transtripts involved in fusion gene | ENST00000370113, ENST00000370114, ENST00000535414, ENST00000480774, | ENST00000370105, ENST00000370109, ENST00000427040, ENST00000342173, ENST00000488176, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 2 X 2 X 2=8 |
| # samples | 2 | 2 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: EXTL2 [Title/Abstract] AND DPH5 [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 | EXTL2 | GO:0006044 | N-acetylglucosamine metabolic process | 10318803 |
| Hgene | EXTL2 | GO:0019276 | UDP-N-acetylgalactosamine metabolic process | 10318803 |
| 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 | BRCA | TCGA-AN-A0FJ-01A | EXTL2 | chr1 | 101360189 | - | DPH5 | chr1 | 101487321 | - |
| * 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 | ENST00000370113 | ENST00000370105 | EXTL2 | chr1 | 101360189 | - | DPH5 | chr1 | 101487321 | - |
| 5UTR-5UTR | ENST00000370113 | ENST00000370109 | EXTL2 | chr1 | 101360189 | - | DPH5 | chr1 | 101487321 | - |
| 5UTR-intron | ENST00000370113 | ENST00000427040 | EXTL2 | chr1 | 101360189 | - | DPH5 | chr1 | 101487321 | - |
| 5UTR-intron | ENST00000370113 | ENST00000342173 | EXTL2 | chr1 | 101360189 | - | DPH5 | chr1 | 101487321 | - |
| 5UTR-intron | ENST00000370113 | ENST00000488176 | EXTL2 | chr1 | 101360189 | - | DPH5 | chr1 | 101487321 | - |
| 5UTR-5UTR | ENST00000370114 | ENST00000370105 | EXTL2 | chr1 | 101360189 | - | DPH5 | chr1 | 101487321 | - |
| 5UTR-5UTR | ENST00000370114 | ENST00000370109 | EXTL2 | chr1 | 101360189 | - | DPH5 | chr1 | 101487321 | - |
| 5UTR-intron | ENST00000370114 | ENST00000427040 | EXTL2 | chr1 | 101360189 | - | DPH5 | chr1 | 101487321 | - |
| 5UTR-intron | ENST00000370114 | ENST00000342173 | EXTL2 | chr1 | 101360189 | - | DPH5 | chr1 | 101487321 | - |
| 5UTR-intron | ENST00000370114 | ENST00000488176 | EXTL2 | chr1 | 101360189 | - | DPH5 | chr1 | 101487321 | - |
| 5UTR-5UTR | ENST00000535414 | ENST00000370105 | EXTL2 | chr1 | 101360189 | - | DPH5 | chr1 | 101487321 | - |
| 5UTR-5UTR | ENST00000535414 | ENST00000370109 | EXTL2 | chr1 | 101360189 | - | DPH5 | chr1 | 101487321 | - |
| 5UTR-intron | ENST00000535414 | ENST00000427040 | EXTL2 | chr1 | 101360189 | - | DPH5 | chr1 | 101487321 | - |
| 5UTR-intron | ENST00000535414 | ENST00000342173 | EXTL2 | chr1 | 101360189 | - | DPH5 | chr1 | 101487321 | - |
| 5UTR-intron | ENST00000535414 | ENST00000488176 | EXTL2 | chr1 | 101360189 | - | DPH5 | chr1 | 101487321 | - |
| 5UTR-5UTR | ENST00000480774 | ENST00000370105 | EXTL2 | chr1 | 101360189 | - | DPH5 | chr1 | 101487321 | - |
| 5UTR-5UTR | ENST00000480774 | ENST00000370109 | EXTL2 | chr1 | 101360189 | - | DPH5 | chr1 | 101487321 | - |
| 5UTR-intron | ENST00000480774 | ENST00000427040 | EXTL2 | chr1 | 101360189 | - | DPH5 | chr1 | 101487321 | - |
| 5UTR-intron | ENST00000480774 | ENST00000342173 | EXTL2 | chr1 | 101360189 | - | DPH5 | chr1 | 101487321 | - |
| 5UTR-intron | ENST00000480774 | ENST00000488176 | EXTL2 | chr1 | 101360189 | - | DPH5 | chr1 | 101487321 | - |
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FusionProtFeatures for EXTL2_DPH5 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| EXTL2 | DPH5 |
| Glycosyltransferase required for the biosynthesis ofheparan-sulfate and responsible for the alternating addition ofbeta-1-4-linked glucuronic acid (GlcA) and alpha-1-4-linked N-acetylglucosamine (GlcNAc) units to nascent heparan sulfatechains. {ECO:0000269|PubMed:10318803}. | S-adenosyl-L-methionine-dependent methyltransferase thatcatalyzes four methylations of the modified target histidineresidue in translation elongation factor 2 (EF-2), to form anintermediate called diphthine methyl ester. The four successivemethylation reactions represent the second step of diphthamidebiosynthesis. {ECO:0000250|UniProtKB:P32469,ECO:0000269|PubMed:23486472}. |
| 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 EXTL2_DPH5 |
| 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 EXTL2_DPH5 |
| 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 |
| EXTL2 | GJC1, LPAR1, GOLT1B, CSGALNACT2, AOC3, SLC39A5, SCN3B, SPPL2B, KCNA10, CLU, SLC39A8, IPPK, MGAT4C, ADPGK, CHRNA3, SLC22A9 | DPH5 | ENO1, MOV10, NXF1, C12orf10, CD2AP, HNRNPL, SFPQ, UFD1L, GCLC, NMD3, PARVA, SPG20, ZYX |
| - 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 EXTL2_DPH5 |
| 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 EXTL2_DPH5 |
| 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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