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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: 23886

FusionGeneSummary for NDUFS4_EXTL3

check button Fusion gene summary
Fusion gene informationFusion gene name: NDUFS4_EXTL3
Fusion gene ID: 23886
HgeneTgene
Gene symbol

NDUFS4

EXTL3

Gene ID

4724

2137

Gene nameNADH:ubiquinone oxidoreductase subunit S4exostosin like glycosyltransferase 3
SynonymsAQDQ|CI-18|CI-18 kDa|CI-AQDQBOTV|EXTL1L|EXTR1|ISDNA|REGR|RPR
Cytomap

5q11.2

8p21.1

Type of geneprotein-codingprotein-coding
DescriptionNADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrialNADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)NADH-ubiquinone oxidoreductase 18 kDa subunitcomplex I 18kDa subunitcomplex I-AQDQmitochondrial respiexostosin-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
Modification date2018052320180527
UniProtAcc

O43181

O43909

Ensembl transtripts involved in fusion geneENST00000296684, ENST00000523149, 
ENST00000220562, ENST00000519886, 
Fusion gene scores* DoF score7 X 4 X 7=1961 X 1 X 1=1
# samples 71
** MAII scorelog2(7/196*10)=-1.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(1/1*10)=3.32192809488736
Context

PubMed: NDUFS4 [Title/Abstract] AND EXTL3 [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
TgeneEXTL3

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
TCGARVLUSCTCGA-43-5668-01ANDUFS4chr5

52899360

+EXTL3chr8

28595036

+
* 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
Frame-shiftENST00000296684ENST00000523149NDUFS4chr5

52899360

+EXTL3chr8

28595036

+
Frame-shiftENST00000296684ENST00000220562NDUFS4chr5

52899360

+EXTL3chr8

28595036

+
5CDS-intronENST00000296684ENST00000519886NDUFS4chr5

52899360

+EXTL3chr8

28595036

+

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FusionProtFeatures for NDUFS4_EXTL3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
NDUFS4

O43181

EXTL3

O43909

Accessory subunit of the mitochondrial membranerespiratory chain NADH dehydrogenase (Complex I), that is believednot to be involved in catalysis. Complex I functions in thetransfer of electrons from NADH to the respiratory chain. Theimmediate electron acceptor for the enzyme is believed to beubiquinone. {ECO:0000269|PubMed:12611891,ECO:0000269|PubMed:9463323}. 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}.

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 NDUFS4_EXTL3


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 NDUFS4_EXTL3


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
NDUFS4APP, NDUFA12, NDUFS6, NDUFB5, NDUFS7, CYC1, UQCRB, ATP5O, MRPL15, M6PR, COX15, DLAT, NDUFAF3, RPS2, NUP188, PRPH, ABCD3, MGST3, CACNA2D1, MARC1, TOMM20, UBE2G2, PARK2, NDUFS3, DNAJC30, PRRT2, NDUFA8, ATP5C1, ALDOA, ALDOC, ATAD3A, ATP1A1, ATP2A2, ATP5A1, ATP5F1, ATP6V0D1, COX4I1, FUBP1, FUBP3, NDUFA2, NDUFS1, OGDH, RPL23, RPS14, SDHB, SLC25A5, UQCRC2, UQCRH, VDAC3, NDUFV1, RPL14, VDAC1, VDAC2, NDUFA9, NDUFA13, NDUFV3, NDUFV2, COX7A2L, NDUFB8, NDUFS2, ND5, NDUFA11, NDUFB10, ND4, NDUFB4, NDUFA7, NDUFS8, ND1, NDUFS5, VAPA, GOLT1B, NDUFA4, COX6B1, NDUFB11, YIPF3, VAPB, GDPD5, FUT1, IL1R2, GALNT6EXTL3PLEKHA5, XIAP, NRG1, SYNE4, SLC39A4, WBP1, ZACN, LPAR1, GLRA2, SCARA3, CD79B, DEFA6, MPPE1, HTR3A, IPPK, HTR2C, SV2C, SPPL2B, PPP6R2, CD97, CHRND, SLC39A5


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 NDUFS4_EXTL3


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 NDUFS4_EXTL3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneNDUFS4C0023264Leigh Disease1CTD_human;ORPHANET