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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: 12329

FusionGeneSummary for EXT1_SAMD12

check button Fusion gene summary
Fusion gene informationFusion gene name: EXT1_SAMD12
Fusion gene ID: 12329
HgeneTgene
Gene symbol

EXT1

SAMD12

Gene ID

2131

401474

Gene nameexostosin glycosyltransferase 1sterile alpha motif domain containing 12
SynonymsEXT|LGCR|LGS|TRPS2|TTV-
Cytomap

8q24.11

8q24.11-q24.12

Type of geneprotein-codingprotein-coding
Descriptionexostosin-1Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferaseLanger-Giedion syndrome chromosome regionN-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferaseexostoses (multiple) 1glucuronosyl-N-acetylglucsterile alpha motif domain-containing protein 12SAM domain-containing protein 12
Modification date2018052220180521
UniProtAcc

Q16394

Q8N8I0

Ensembl transtripts involved in fusion geneENST00000378204, ENST00000409003, 
ENST00000314727, ENST00000527515, 
Fusion gene scores* DoF score11 X 8 X 12=10567 X 6 X 9=378
# samples 1913
** MAII scorelog2(19/1056*10)=-2.47453851102751
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(13/378*10)=-1.53987461119262
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: EXT1 [Title/Abstract] AND SAMD12 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationTumor suppressor gene involved fusion gene, in-frame but not retained their domain.
Tumor 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.
* 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
HgeneEXT1

GO:0006024

glycosaminoglycan biosynthetic process

12907669

HgeneEXT1

GO:0015012

heparan sulfate proteoglycan biosynthetic process

9620772|10639137

HgeneEXT1

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
TCGARVBRCATCGA-A7-A6VY-01AEXT1chr8

119122324

-SAMD12chr8

119209971

-
TCGARVHNSCTCGA-CN-5370-01AEXT1chr8

119122324

-SAMD12chr8

119209971

-
TCGARVLUSCTCGA-L3-A524-01AEXT1chr8

119122324

-SAMD12chr8

119391939

-
TCGARVPAADTCGA-HZ-8637-01AEXT1chr8

119122324

-SAMD12chr8

119209971

-
TCGARVPRADTCGA-EJ-7123-01AEXT1chr8

119122324

-SAMD12chr8

119209971

-
TCGARVSARCTCGA-IW-A3M5-01AEXT1chr8

119122324

-SAMD12chr8

119209971

-
TCGARVUCSTCGA-N7-A4Y8-01AEXT1chr8

119122324

-SAMD12chr8

119209971

-
* 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
In-frameENST00000378204ENST00000409003EXT1chr8

119122324

-SAMD12chr8

119209971

-
5CDS-intronENST00000378204ENST00000314727EXT1chr8

119122324

-SAMD12chr8

119209971

-
5CDS-intronENST00000378204ENST00000527515EXT1chr8

119122324

-SAMD12chr8

119209971

-
Frame-shitENST00000378204ENST00000409003EXT1chr8

119122324

-SAMD12chr8

119391939

-
Frame-shitENST00000378204ENST00000314727EXT1chr8

119122324

-SAMD12chr8

119391939

-
5CDS-intronENST00000378204ENST00000527515EXT1chr8

119122324

-SAMD12chr8

119391939

-

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FusionProtFeatures for EXT1_SAMD12


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
EXT1

Q16394

SAMD12

Q8N8I0

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
HgeneEXT1chr8:119122324chr8:119209971ENST00000378204-1111_7320747Topological domainCytoplasmic
HgeneEXT1chr8:119122324chr8:119209971ENST00000378204-1118_28320747TransmembraneHelical%3B Signal-anchor for type II membrane protein
TgeneSAMD12chr8:119122324chr8:119209971ENST00000314727-0477_143-46202DomainSAM

- In-frame and not-retained protein feature among the 13 regional features.
>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneEXT1chr8:119122324chr8:119209971ENST00000378204-111544_549320747RegionSubstrate binding
HgeneEXT1chr8:119122324chr8:119209971ENST00000378204-111565_567320747RegionSubstrate binding
HgeneEXT1chr8:119122324chr8:119209971ENST00000378204-111650_654320747RegionSubstrate binding
HgeneEXT1chr8:119122324chr8:119209971ENST00000378204-111688_701320747RegionSubstrate binding
HgeneEXT1chr8:119122324chr8:119209971ENST00000378204-11129_746320747Topological domainLumenal


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FusionGeneSequence for EXT1_SAMD12


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 EXT1_SAMD12


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
EXT1CNTF, OSTF1, EXT1, EXT2, TRAP1, PEX19, SYNE4, PLAUR, PTCH1, ERGIC3, NAAA, SCGB2A2, B4GAT1, MPPE1, CRP, SYP, GAA, SLC39A5, TFR2, NRROS, TOR1AIP2, CD79B, FBXW7, NOTCH1SAMD12


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 EXT1_SAMD12


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 EXT1_SAMD12


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneEXT1C0015306Hereditary Multiple Exostoses8CTD_human;HPO;ORPHANET;UNIPROT
HgeneEXT1C0004352Autistic Disorder1CTD_human
HgeneEXT1C0008479Chondrosarcoma1CTD_human;HPO;ORPHANET;UNIPROT