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Fusion gene ID: 10568 |
FusionGeneSummary for DSCAML1_THTPA |
Fusion gene summary |
Fusion gene information | Fusion gene name: DSCAML1_THTPA | Fusion gene ID: 10568 | Hgene | Tgene | Gene symbol | DSCAML1 | THTPA | Gene ID | 57453 | 79178 |
Gene name | DS cell adhesion molecule like 1 | thiamine triphosphatase | |
Synonyms | DSCAM2 | THTP|THTPASE | |
Cytomap | 11q23.3 | 14q11.2 | |
Type of gene | protein-coding | protein-coding | |
Description | Down syndrome cell adhesion molecule-like protein 1DSCAM-like 1Downs syndrome cell adhesion molecule like 1down syndrome cell adhesion molecule 2 | thiamine-triphosphatase | |
Modification date | 20180519 | 20180519 | |
UniProtAcc | Q8TD84 | Q9BU02 | |
Ensembl transtripts involved in fusion gene | ENST00000527706, ENST00000321322, | ENST00000404535, ENST00000288014, ENST00000556015, ENST00000554970, ENST00000554789, | |
Fusion gene scores | * DoF score | 5 X 4 X 2=40 | 2 X 2 X 1=4 |
# samples | 5 | 2 | |
** MAII score | log2(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) |
Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | DSCAML1 | GO:0007156 | homophilic cell adhesion via plasma membrane adhesion molecules | 11453658 |
Hgene | DSCAML1 | GO:0007420 | brain development | 12051741 |
Hgene | DSCAML1 | GO:0048704 | embryonic skeletal system morphogenesis | 12051741 |
Tgene | THTPA | GO:0016311 | dephosphorylation | 11827967 |
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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChiTaRS3.1 | BF960308 | DSCAML1 | chr11 | 117362891 | - | THTPA | chr14 | 24028189 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
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. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
intron-3UTR | ENST00000527706 | ENST00000404535 | DSCAML1 | chr11 | 117362891 | - | THTPA | chr14 | 24028189 | - |
intron-3UTR | ENST00000527706 | ENST00000288014 | DSCAML1 | chr11 | 117362891 | - | THTPA | chr14 | 24028189 | - |
intron-intron | ENST00000527706 | ENST00000556015 | DSCAML1 | chr11 | 117362891 | - | THTPA | chr14 | 24028189 | - |
intron-intron | ENST00000527706 | ENST00000554970 | DSCAML1 | chr11 | 117362891 | - | THTPA | chr14 | 24028189 | - |
intron-3UTR | ENST00000527706 | ENST00000554789 | DSCAML1 | chr11 | 117362891 | - | THTPA | chr14 | 24028189 | - |
intron-3UTR | ENST00000321322 | ENST00000404535 | DSCAML1 | chr11 | 117362891 | - | THTPA | chr14 | 24028189 | - |
intron-3UTR | ENST00000321322 | ENST00000288014 | DSCAML1 | chr11 | 117362891 | - | THTPA | chr14 | 24028189 | - |
intron-intron | ENST00000321322 | ENST00000556015 | DSCAML1 | chr11 | 117362891 | - | THTPA | chr14 | 24028189 | - |
intron-intron | ENST00000321322 | ENST00000554970 | DSCAML1 | chr11 | 117362891 | - | THTPA | chr14 | 24028189 | - |
intron-3UTR | ENST00000321322 | ENST00000554789 | DSCAML1 | chr11 | 117362891 | - | THTPA | chr14 | 24028189 | - |
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FusionProtFeatures for DSCAML1_THTPA |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
DSCAML1 | THTPA |
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}. |
Retention 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 . * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for DSCAML1_THTPA |
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 |
Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
- Retained PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
- Lost PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
- Retained PPIs, but lost function due to frame-shift fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for DSCAML1_THTPA |
Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for DSCAML1_THTPA |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | DSCAML1 | C0001973 | Alcoholic Intoxication, Chronic | 1 | PSYGENET |