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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: 12333

FusionGeneSummary for EXT2_ALKBH3

check button Fusion gene summary
Fusion gene informationFusion gene name: EXT2_ALKBH3
Fusion gene ID: 12333
HgeneTgene
Gene symbol

EXT2

ALKBH3

Gene ID

2132

221120

Gene nameexostosin glycosyltransferase 2alkB homolog 3, alpha-ketoglutaratedependent dioxygenase
SynonymsSOTV|SSMSABH3|DEPC-1|DEPC1|PCA1|hABH3
Cytomap

11p11.2

11p11.2

Type of geneprotein-codingprotein-coding
Descriptionexostosin-2N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferaseglucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferasemultiple exostoses protein 2multiple exostosis 2putativalpha-ketoglutarate-dependent dioxygenase alkB homolog 3alkB homolog 3, alpha-ketoglutarate-dependent dioxygenasealkB, alkylation repair homolog 3alkylated DNA repair protein alkB homolog 3prostate cancer antigen-1
Modification date2018052220180519
UniProtAcc

Q93063

Q96Q83

Ensembl transtripts involved in fusion geneENST00000533608, ENST00000358681, 
ENST00000395673, ENST00000343631, 
ENST00000529186, 
ENST00000302708, 
ENST00000378840, ENST00000532410, 
Fusion gene scores* DoF score4 X 4 X 5=804 X 3 X 5=60
# samples 55
** MAII scorelog2(5/80*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/60*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: EXT2 [Title/Abstract] AND ALKBH3 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationTumor suppressor gene involved fusion gene, retained protein feature but frameshift.
DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain.
DDR (DNA damage repair) gene involved fusion gene, retained protein feature but frameshift.
* 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
HgeneEXT2

GO:0006024

glycosaminoglycan biosynthetic process

12907669

HgeneEXT2

GO:0033692

cellular polysaccharide biosynthetic process

12907669

TgeneALKBH3

GO:0006281

DNA repair

16858410

TgeneALKBH3

GO:0006307

DNA dealkylation involved in DNA repair

16858410|22055184

TgeneALKBH3

GO:0035552

oxidative single-stranded DNA demethylation

16858410

TgeneALKBH3

GO:0035553

oxidative single-stranded RNA demethylation

26863196|26863410


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
TCGARVPCPGTCGA-QR-A6GW-01AEXT2chr11

44219568

+ALKBH3chr11

43940588

+
TCGARVSKCMTCGA-ER-A194-01AEXT2chr11

44135851

+ALKBH3chr11

43940588

+
* 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-shiftENST00000533608ENST00000302708EXT2chr11

44219568

+ALKBH3chr11

43940588

+
5CDS-intronENST00000533608ENST00000378840EXT2chr11

44219568

+ALKBH3chr11

43940588

+
5CDS-3UTRENST00000533608ENST00000532410EXT2chr11

44219568

+ALKBH3chr11

43940588

+
Frame-shiftENST00000358681ENST00000302708EXT2chr11

44219568

+ALKBH3chr11

43940588

+
5CDS-intronENST00000358681ENST00000378840EXT2chr11

44219568

+ALKBH3chr11

43940588

+
5CDS-3UTRENST00000358681ENST00000532410EXT2chr11

44219568

+ALKBH3chr11

43940588

+
Frame-shiftENST00000395673ENST00000302708EXT2chr11

44219568

+ALKBH3chr11

43940588

+
5CDS-intronENST00000395673ENST00000378840EXT2chr11

44219568

+ALKBH3chr11

43940588

+
5CDS-3UTRENST00000395673ENST00000532410EXT2chr11

44219568

+ALKBH3chr11

43940588

+
Frame-shiftENST00000343631ENST00000302708EXT2chr11

44219568

+ALKBH3chr11

43940588

+
5CDS-intronENST00000343631ENST00000378840EXT2chr11

44219568

+ALKBH3chr11

43940588

+
5CDS-3UTRENST00000343631ENST00000532410EXT2chr11

44219568

+ALKBH3chr11

43940588

+
intron-3CDSENST00000529186ENST00000302708EXT2chr11

44219568

+ALKBH3chr11

43940588

+
intron-intronENST00000529186ENST00000378840EXT2chr11

44219568

+ALKBH3chr11

43940588

+
intron-3UTRENST00000529186ENST00000532410EXT2chr11

44219568

+ALKBH3chr11

43940588

+
Frame-shiftENST00000533608ENST00000302708EXT2chr11

44135851

+ALKBH3chr11

43940588

+
5CDS-intronENST00000533608ENST00000378840EXT2chr11

44135851

+ALKBH3chr11

43940588

+
5CDS-3UTRENST00000533608ENST00000532410EXT2chr11

44135851

+ALKBH3chr11

43940588

+
Frame-shiftENST00000358681ENST00000302708EXT2chr11

44135851

+ALKBH3chr11

43940588

+
5CDS-intronENST00000358681ENST00000378840EXT2chr11

44135851

+ALKBH3chr11

43940588

+
5CDS-3UTRENST00000358681ENST00000532410EXT2chr11

44135851

+ALKBH3chr11

43940588

+
Frame-shiftENST00000395673ENST00000302708EXT2chr11

44135851

+ALKBH3chr11

43940588

+
5CDS-intronENST00000395673ENST00000378840EXT2chr11

44135851

+ALKBH3chr11

43940588

+
5CDS-3UTRENST00000395673ENST00000532410EXT2chr11

44135851

+ALKBH3chr11

43940588

+
Frame-shiftENST00000343631ENST00000302708EXT2chr11

44135851

+ALKBH3chr11

43940588

+
5CDS-intronENST00000343631ENST00000378840EXT2chr11

44135851

+ALKBH3chr11

43940588

+
5CDS-3UTRENST00000343631ENST00000532410EXT2chr11

44135851

+ALKBH3chr11

43940588

+
3UTR-3CDSENST00000529186ENST00000302708EXT2chr11

44135851

+ALKBH3chr11

43940588

+
3UTR-intronENST00000529186ENST00000378840EXT2chr11

44135851

+ALKBH3chr11

43940588

+
3UTR-3UTRENST00000529186ENST00000532410EXT2chr11

44135851

+ALKBH3chr11

43940588

+

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FusionProtFeatures for EXT2_ALKBH3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
EXT2

Q93063

ALKBH3

Q96Q83

Glycosyltransferase required for the biosynthesis ofheparan-sulfate. The EXT1/EXT2 complex possesses substantiallyhigher glycosyltransferase activity than EXT1 or EXT2 alone.Appears to be a tumor suppressor. Required for the exosomalrelease of SDCBP, CD63 and syndecan (PubMed:22660413).{ECO:0000269|PubMed:22660413}. Dioxygenase that mediates demethylation of DNA and RNAcontaining 1-methyladenosine (m1A) (PubMed:12486230,PubMed:12594517, PubMed:16174769, PubMed:26863196,PubMed:26863410). Repairs alkylated DNA containing 1-methyladenosine (m1A) and 3-methylcytosine (m3C) by oxidativedemethylation (PubMed:12486230, PubMed:12594517, PubMed:16174769,PubMed:25944111). Has a strong preference for single-stranded DNA(PubMed:12486230, PubMed:12594517, PubMed:16174769). Able toprocess alkylated m3C within double-stranded regions via itsinteraction with ASCC3, which promotes DNA unwinding to generatesingle-stranded substrate needed for ALKBH3 (PubMed:22055184).Also acts on RNA (PubMed:12594517, PubMed:16174769,PubMed:26863196, PubMed:26863410, PubMed:16858410). DemethylatesN(1)-methyladenosine (m1A) RNA, an epigenetic internalmodification of messenger RNAs (mRNAs) highly enriched within 5'-untranslated regions (UTRs) and in the vicinity of start codons(PubMed:26863196, PubMed:26863410). Requires molecular oxygen,alpha-ketoglutarate and iron (PubMed:22055184, PubMed:16858410).{ECO:0000269|PubMed:12486230, ECO:0000269|PubMed:12594517,ECO:0000269|PubMed:16174769, ECO:0000269|PubMed:16858410,ECO:0000269|PubMed:22055184, ECO:0000269|PubMed:25944111,ECO:0000269|PubMed:26863196, ECO:0000269|PubMed:26863410}.

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 EXT2_ALKBH3


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 EXT2_ALKBH3


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
EXT2STK16, SNCG, HYOU1, CNTF, TCEB1, RPS29, CRB1, CLEC2L, FABP4, HNF4A, EXT1, EXT2, GALNT5, TRAP1, TK1, CDKN1A, SMN1, ANXA7, PFDN1, GSKIP, SLC22A2, IDS, INVS, TTC19, RBFA, AFAP1, ATE1, CUX1, USP30, NOP9, HLA-DPB1ALKBH3SRPK2, SRPK1, GOLGA2, IKZF1, GLRX3, LNX1, AK8, ZDHHC17, ASCC3, SMEK1, ASCC2, TRIP4, INPPL1, ASCC1, NEU2, KRAS, HSPA5, MAP1B, TUBB2A, TUBA1A, HSPA8, THRAP3, PRMT5, FLNA, RIF1, MGA, TUBB, TCP1, CCT2, CCT4, DHX15, LTBP1, CCT6A, OTUD4, HSPA2, TUBB3, CCT8, BCLAF1, CLNS1A, HNRNPH1, MATR3, SF3B2, TAB1, EEF1A1, CCT5, TUBB4A, HSPA9, USP7, USP9X


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 EXT2_ALKBH3


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneALKBH3Q96Q83DB00126Vitamin CAlpha-ketoglutarate-dependent dioxygenase alkB homolog 3 {ECO:0000305}small moleculeapproved|nutraceutical

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RelatedDiseases for EXT2_ALKBH3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneEXT2C1851413EXOSTOSES, MULTIPLE, TYPE II9CTD_human;UNIPROT
HgeneEXT2C0015306Hereditary Multiple Exostoses1CTD_human;HPO;ORPHANET
HgeneEXT2C4225248SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME1ORPHANET;UNIPROT