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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: 38681

FusionGeneSummary for TMEM65_EXT1

check button Fusion gene summary
Fusion gene informationFusion gene name: TMEM65_EXT1
Fusion gene ID: 38681
HgeneTgene
Gene symbol

TMEM65

EXT1

Gene ID

157378

2131

Gene nametransmembrane protein 65exostosin glycosyltransferase 1
Synonyms-EXT|LGCR|LGS|TRPS2|TTV
Cytomap

8q24.13

8q24.11

Type of geneprotein-codingprotein-coding
Descriptiontransmembrane protein 65exostosin-1Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferaseLanger-Giedion syndrome chromosome regionN-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferaseexostoses (multiple) 1glucuronosyl-N-acetylgluc
Modification date2018051920180522
UniProtAcc

Q6PI78

Q16394

Ensembl transtripts involved in fusion geneENST00000297632, ENST00000378204, 
Fusion gene scores* DoF score1 X 1 X 1=17 X 6 X 5=210
# samples 19
** MAII scorelog2(1/1*10)=3.32192809488736log2(9/210*10)=-1.22239242133645
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: TMEM65 [Title/Abstract] AND EXT1 [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
TgeneEXT1

GO:0006024

glycosaminoglycan biosynthetic process

12907669

TgeneEXT1

GO:0015012

heparan sulfate proteoglycan biosynthetic process

9620772|10639137

TgeneEXT1

GO:0033692

cellular polysaccharide biosynthetic process

12907669


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-85-8664-01ATMEM65chr8

125384095

-EXT1chr8

118849440

-
* 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-shitENST00000297632ENST00000378204TMEM65chr8

125384095

-EXT1chr8

118849440

-

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FusionProtFeatures for TMEM65_EXT1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
TMEM65

Q6PI78

EXT1

Q16394

May play an important role in cardiac development andfunction. May regulate cardiac conduction and the function of thegap junction protein GJA1. May contributes to the stability andproper localization of GJA1 to cardiac intercalated disk therebyregulating gap junction communication (By similarity). May alsoplay a role in the regulation of mitochondrial respiration andmitochondrial DNA copy number maintenance (PubMed:28295037).{ECO:0000250|UniProtKB:Q4VAE3, ECO:0000269|PubMed:28295037}. 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:11518722, ECO:0000269|PubMed:22660413}.

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 TMEM65_EXT1


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 TMEM65_EXT1


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
TMEM65ELAVL1, ACAT1, TAX1BP3, NDUFS6, S100A10, ACAA2, SRPRB, RTN4, FBXW7, COQ9, TM4SF18, MPZL1, LMNAEXT1CNTF, OSTF1, EXT1, EXT2, TRAP1, PEX19, SYNE4, PLAUR, PTCH1, ERGIC3, NAAA, SCGB2A2, B4GAT1, MPPE1, CRP, SYP, GAA, SLC39A5, TFR2, NRROS, TOR1AIP2, CD79B, FBXW7, NOTCH1


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 TMEM65_EXT1


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 TMEM65_EXT1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneTMEM65C0023893Liver Cirrhosis, Experimental1CTD_human
TgeneEXT1C0015306Hereditary Multiple Exostoses8CTD_human;HPO;ORPHANET;UNIPROT
TgeneEXT1C0004352Autistic Disorder1CTD_human
TgeneEXT1C0008479Chondrosarcoma1CTD_human;HPO;ORPHANET;UNIPROT