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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: 10572

FusionGeneSummary for DSCAM_EXT1

check button Fusion gene summary
Fusion gene informationFusion gene name: DSCAM_EXT1
Fusion gene ID: 10572
HgeneTgene
Gene symbol

DSCAM

EXT1

Gene ID

1826

2131

Gene nameDS cell adhesion moleculeexostosin glycosyltransferase 1
SynonymsCHD2|CHD2-42|CHD2-52EXT|LGCR|LGS|TRPS2|TTV
Cytomap

21q22.2

8q24.11

Type of geneprotein-codingprotein-coding
DescriptionDown syndrome cell adhesion moleculeexostosin-1Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferaseLanger-Giedion syndrome chromosome regionN-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferaseexostoses (multiple) 1glucuronosyl-N-acetylgluc
Modification date2018051920180522
UniProtAcc

O60469

Q16394

Ensembl transtripts involved in fusion geneENST00000400454, ENST00000378204, 
Fusion gene scores* DoF score4 X 4 X 1=167 X 6 X 5=210
# samples 59
** MAII scorelog2(5/16*10)=1.64385618977472
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(9/210*10)=-1.22239242133645
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DSCAM [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
HgeneDSCAM

GO:0042327

positive regulation of phosphorylation

19196994

HgeneDSCAM

GO:0048842

positive regulation of axon extension involved in axon guidance

18585357

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
ChiTaRS3.1BF749377DSCAMchr21

42162053

-EXT1chr8

118835666

-
* 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
intron-intronENST00000400454ENST00000378204DSCAMchr21

42162053

-EXT1chr8

118835666

-

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FusionProtFeatures for DSCAM_EXT1


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

O60469

EXT1

Q16394

Cell adhesion molecule that plays a role in neuronalself-avoidance. Promotes repulsion between specific neuronalprocesses of either the same cell or the same subtype of cells.Mediates within retinal amacrine and ganglion cell subtypes bothisoneuronal self-avoidance for creating an orderly dendriticarborization and heteroneuronal self-avoidance to maintain themosaic spacing between amacrine and ganglion cell bodies(PubMed:10925149). Receptor for netrin required for axon guidanceindependently of and in collaboration with the receptor DCC. Inspinal chord development plays a role in guiding commissural axonsprojection and pathfinding across the ventral midline to reach thefloor plate upon ligand binding (PubMed:18585357,PubMed:19196994). Enhances netrin-induced phosphorylation of PAK1and FYN (PubMed:15169762). Mediates intracellular signaling bystimulating the activation of MAPK8 and MAP kinase p38(PubMed:18585357, PubMed:19196994). Adhesion molecule thatpromotes lamina-specific synaptic connections in the retina:expressed in specific subsets of interneurons and retinal ganglioncells (RGCs) and promotes synaptic connectivity via homophilicinteractions (By similarity). {ECO:0000250|UniProtKB:F1NY98,ECO:0000269|PubMed:10925149, ECO:0000269|PubMed:15169762,ECO:0000269|PubMed:18585357, ECO:0000269|PubMed:19196994}. 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 DSCAM_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 DSCAM_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


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 DSCAM_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 DSCAM_EXT1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDSCAMC0005586Bipolar Disorder1PSYGENET
HgeneDSCAMC0236969Substance-Related Disorders1CTD_human
TgeneEXT1C0015306Hereditary Multiple Exostoses8CTD_human;HPO;ORPHANET;UNIPROT
TgeneEXT1C0004352Autistic Disorder1CTD_human
TgeneEXT1C0008479Chondrosarcoma1CTD_human;HPO;ORPHANET;UNIPROT