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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: 10568

FusionGeneSummary for DSCAML1_THTPA

check button Fusion gene summary
Fusion gene informationFusion gene name: DSCAML1_THTPA
Fusion gene ID: 10568
HgeneTgene
Gene symbol

DSCAML1

THTPA

Gene ID

57453

79178

Gene nameDS cell adhesion molecule like 1thiamine triphosphatase
SynonymsDSCAM2THTP|THTPASE
Cytomap

11q23.3

14q11.2

Type of geneprotein-codingprotein-coding
DescriptionDown syndrome cell adhesion molecule-like protein 1DSCAM-like 1Downs syndrome cell adhesion molecule like 1down syndrome cell adhesion molecule 2thiamine-triphosphatase
Modification date2018051920180519
UniProtAcc

Q8TD84

Q9BU02

Ensembl transtripts involved in fusion geneENST00000527706, ENST00000321322, 
ENST00000404535, ENST00000288014, 
ENST00000556015, ENST00000554970, 
ENST00000554789, 
Fusion gene scores* DoF score5 X 4 X 2=402 X 2 X 1=4
# samples 52
** MAII scorelog2(5/40*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(2/4*10)=2.32192809488736
Context

PubMed: DSCAML1 [Title/Abstract] AND THTPA [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
HgeneDSCAML1

GO:0007156

homophilic cell adhesion via plasma membrane adhesion molecules

11453658

HgeneDSCAML1

GO:0007420

brain development

12051741

HgeneDSCAML1

GO:0048704

embryonic skeletal system morphogenesis

12051741

TgeneTHTPA

GO:0016311

dephosphorylation

11827967


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
ChiTaRS3.1BF960308DSCAML1chr11

117362891

-THTPAchr14

24028189

-
* 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-3UTRENST00000527706ENST00000404535DSCAML1chr11

117362891

-THTPAchr14

24028189

-
intron-3UTRENST00000527706ENST00000288014DSCAML1chr11

117362891

-THTPAchr14

24028189

-
intron-intronENST00000527706ENST00000556015DSCAML1chr11

117362891

-THTPAchr14

24028189

-
intron-intronENST00000527706ENST00000554970DSCAML1chr11

117362891

-THTPAchr14

24028189

-
intron-3UTRENST00000527706ENST00000554789DSCAML1chr11

117362891

-THTPAchr14

24028189

-
intron-3UTRENST00000321322ENST00000404535DSCAML1chr11

117362891

-THTPAchr14

24028189

-
intron-3UTRENST00000321322ENST00000288014DSCAML1chr11

117362891

-THTPAchr14

24028189

-
intron-intronENST00000321322ENST00000556015DSCAML1chr11

117362891

-THTPAchr14

24028189

-
intron-intronENST00000321322ENST00000554970DSCAML1chr11

117362891

-THTPAchr14

24028189

-
intron-3UTRENST00000321322ENST00000554789DSCAML1chr11

117362891

-THTPAchr14

24028189

-

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FusionProtFeatures for DSCAML1_THTPA


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
DSCAML1

Q8TD84

THTPA

Q9BU02

Cell adhesion molecule that plays a role in neuronalself-avoidance (PubMed:11453658). Promotes repulsion betweenspecific neuronal processes of either the same cell or the samesubtype of cells. Promotes both isoneuronal self-avoidance forcreating an orderly neurite arborization in retinal rod bipolarcells and heteroneuronal self-avoidance to maintain mosaic spacingbetween AII amacrine cells (By similarity). 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:E1C8P7,ECO:0000250|UniProtKB:Q4VA61, ECO:0000269|PubMed:11453658}. Hydrolase highly specific for thiamine triphosphate(ThTP). {ECO:0000269|PubMed:11827967,ECO:0000269|PubMed:23707715}.

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 DSCAML1_THTPA


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 DSCAML1_THTPA


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 DSCAML1_THTPA


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 DSCAML1_THTPA


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDSCAML1C0001973Alcoholic Intoxication, Chronic1PSYGENET