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Fusion gene ID: 12340 |
FusionGeneSummary for EXTL3_PNOC |
Fusion gene summary |
Fusion gene information | Fusion gene name: EXTL3_PNOC | Fusion gene ID: 12340 | Hgene | Tgene | Gene symbol | EXTL3 | PNOC | Gene ID | 2137 | 5368 |
Gene name | exostosin like glycosyltransferase 3 | prepronociceptin | |
Synonyms | BOTV|EXTL1L|EXTR1|ISDNA|REGR|RPR | N/OFQ|NOP|OFQ|PPNOC|ppN/OFQ | |
Cytomap | 8p21.1 | 8p21.1 | |
Type of gene | protein-coding | protein-coding | |
Description | exostosin-like 3EXT-related 1exostoses (multiple)-like 3exostosin tumor-like 3glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferasehereditary multiple exostoses gene isologputative tumor suppressor protein EXTL3reg receptor | prepronociceptinnociceptinnocistatinorphanin FQpre-pro-N/OFQpronociceptin | |
Modification date | 20180527 | 20180523 | |
UniProtAcc | O43909 | Q13519 | |
Ensembl transtripts involved in fusion gene | ENST00000523149, ENST00000220562, ENST00000519886, | ENST00000301908, ENST00000522209, | |
Fusion gene scores | * DoF score | 2 X 1 X 2=4 | 5 X 3 X 5=75 |
# samples | 2 | 5 | |
** MAII score | log2(2/4*10)=2.32192809488736 | log2(5/75*10)=-0.584962500721156 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: EXTL3 [Title/Abstract] AND PNOC [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 | EXTL3 | GO:0015012 | heparan sulfate proteoglycan biosynthetic process | 28132690|28148688 |
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 | OV | TCGA-10-0927-01A | EXTL3 | chr8 | 28480327 | + | PNOC | chr8 | 28186652 | + |
* 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 | ENST00000523149 | ENST00000301908 | EXTL3 | chr8 | 28480327 | + | PNOC | chr8 | 28186652 | + |
5UTR-intron | ENST00000523149 | ENST00000522209 | EXTL3 | chr8 | 28480327 | + | PNOC | chr8 | 28186652 | + |
intron-5UTR | ENST00000220562 | ENST00000301908 | EXTL3 | chr8 | 28480327 | + | PNOC | chr8 | 28186652 | + |
intron-intron | ENST00000220562 | ENST00000522209 | EXTL3 | chr8 | 28480327 | + | PNOC | chr8 | 28186652 | + |
intron-5UTR | ENST00000519886 | ENST00000301908 | EXTL3 | chr8 | 28480327 | + | PNOC | chr8 | 28186652 | + |
intron-intron | ENST00000519886 | ENST00000522209 | EXTL3 | chr8 | 28480327 | + | PNOC | chr8 | 28186652 | + |
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FusionProtFeatures for EXTL3_PNOC |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
EXTL3 | PNOC |
Glycosyltransferase which regulates the biosynthesis ofheparan sulfate (HS). Important for both skeletal development andhematopoiesis, through the formation of HS proteoglycans (HSPGs)(PubMed:28132690, PubMed:28148688). Required for the function ofREG3A in regulating keratinocyte proliferation and differentiation(PubMed:22727489). {ECO:0000269|PubMed:22727489,ECO:0000269|PubMed:28132690, ECO:0000269|PubMed:28148688}. | Nociceptin: Ligand of the opioid receptor-like receptorOPRL1. It may act as a transmitter in the brain by modulatingnociceptive and locomotor behavior. May be involved in neuronaldifferentiation and development. {ECO:0000250|UniProtKB:P55791}. Nocistatin: Blocks nociceptin action in paintransmission by inhibiting nociceptin-induced hyperalgesia andallodynia. {ECO:0000250|UniProtKB:O62647}. Orphanin FQ2: Has potent analgesic activity.{ECO:0000250|UniProtKB:Q64387}. |
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 EXTL3_PNOC |
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 EXTL3_PNOC |
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 |
EXTL3 | PLEKHA5, XIAP, NRG1, SYNE4, SLC39A4, WBP1, ZACN, LPAR1, GLRA2, SCARA3, CD79B, DEFA6, MPPE1, HTR3A, IPPK, HTR2C, SV2C, SPPL2B, PPP6R2, CD97, CHRND, SLC39A5 | PNOC | OPRL1 |
- 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 EXTL3_PNOC |
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 EXTL3_PNOC |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | PNOC | C0011570 | Mental Depression | 3 | PSYGENET |
Tgene | PNOC | C0011581 | Depressive disorder | 3 | PSYGENET |
Tgene | PNOC | C0020429 | Hyperalgesia | 2 | CTD_human |
Tgene | PNOC | C0036341 | Schizophrenia | 2 | PSYGENET |
Tgene | PNOC | C0020649 | Hypotension | 1 | CTD_human |
Tgene | PNOC | C0023186 | Learning Disorders | 1 | CTD_human |
Tgene | PNOC | C0025261 | Memory Disorders | 1 | CTD_human |
Tgene | PNOC | C0030193 | Pain | 1 | CTD_human |
Tgene | PNOC | C0038587 | Substance Withdrawal Syndrome | 1 | CTD_human |
Tgene | PNOC | C0525045 | Mood Disorders | 1 | PSYGENET |
Tgene | PNOC | C0600467 | Neurogenic Inflammation | 1 | CTD_human |