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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 12340

FusionGeneSummary for EXTL3_PNOC

check button Fusion gene summary
Fusion gene informationFusion gene name: EXTL3_PNOC
Fusion gene ID: 12340
HgeneTgene
Gene symbol

EXTL3

PNOC

Gene ID

2137

5368

Gene nameexostosin like glycosyltransferase 3prepronociceptin
SynonymsBOTV|EXTL1L|EXTR1|ISDNA|REGR|RPRN/OFQ|NOP|OFQ|PPNOC|ppN/OFQ
Cytomap

8p21.1

8p21.1

Type of geneprotein-codingprotein-coding
Descriptionexostosin-like 3EXT-related 1exostoses (multiple)-like 3exostosin tumor-like 3glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferasehereditary multiple exostoses gene isologputative tumor suppressor protein EXTL3reg receptorprepronociceptinnociceptinnocistatinorphanin FQpre-pro-N/OFQpronociceptin
Modification date2018052720180523
UniProtAcc

O43909

Q13519

Ensembl transtripts involved in fusion geneENST00000523149, ENST00000220562, 
ENST00000519886, 
ENST00000301908, 
ENST00000522209, 
Fusion gene scores* DoF score2 X 1 X 2=45 X 3 X 5=75
# samples 25
** MAII scorelog2(2/4*10)=2.32192809488736log2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneEXTL3

GO:0015012

heparan sulfate proteoglycan biosynthetic process

28132690|28148688


check button 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGALDOVTCGA-10-0927-01AEXTL3chr8

28480327

+PNOCchr8

28186652

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
5UTR-5UTRENST00000523149ENST00000301908EXTL3chr8

28480327

+PNOCchr8

28186652

+
5UTR-intronENST00000523149ENST00000522209EXTL3chr8

28480327

+PNOCchr8

28186652

+
intron-5UTRENST00000220562ENST00000301908EXTL3chr8

28480327

+PNOCchr8

28186652

+
intron-intronENST00000220562ENST00000522209EXTL3chr8

28480327

+PNOCchr8

28186652

+
intron-5UTRENST00000519886ENST00000301908EXTL3chr8

28480327

+PNOCchr8

28186652

+
intron-intronENST00000519886ENST00000522209EXTL3chr8

28480327

+PNOCchr8

28186652

+

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FusionProtFeatures for EXTL3_PNOC


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
EXTL3

O43909

PNOC

Q13519

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}.

check buttonRetention 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

download page

.

* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for EXTL3_PNOC


check button 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


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
EXTL3PLEKHA5, XIAP, NRG1, SYNE4, SLC39A4, WBP1, ZACN, LPAR1, GLRA2, SCARA3, CD79B, DEFA6, MPPE1, HTR3A, IPPK, HTR2C, SV2C, SPPL2B, PPP6R2, CD97, CHRND, SLC39A5PNOCOPRL1


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for EXTL3_PNOC


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for EXTL3_PNOC


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgenePNOCC0011570Mental Depression3PSYGENET
TgenePNOCC0011581Depressive disorder3PSYGENET
TgenePNOCC0020429Hyperalgesia2CTD_human
TgenePNOCC0036341Schizophrenia2PSYGENET
TgenePNOCC0020649Hypotension1CTD_human
TgenePNOCC0023186Learning Disorders1CTD_human
TgenePNOCC0025261Memory Disorders1CTD_human
TgenePNOCC0030193Pain1CTD_human
TgenePNOCC0038587Substance Withdrawal Syndrome1CTD_human
TgenePNOCC0525045Mood Disorders1PSYGENET
TgenePNOCC0600467Neurogenic Inflammation1CTD_human