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Fusion gene ID: 17293 |
FusionGeneSummary for IGSF1_DSCAM |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: IGSF1_DSCAM | Fusion gene ID: 17293 | Hgene | Tgene | Gene symbol | IGSF1 | DSCAM | Gene ID | 3547 | 1826 |
| Gene name | immunoglobulin superfamily member 1 | DS cell adhesion molecule | |
| Synonyms | CHTE|IGCD1|IGDC1|INHBP|PGSF2|p120 | CHD2|CHD2-42|CHD2-52 | |
| Cytomap | Xq26.1 | 21q22.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | immunoglobulin superfamily member 1immunoglobulin-like domain-containing protein 1inhibin-binding proteinpituitary gland-specific factor 2 | Down syndrome cell adhesion molecule | |
| Modification date | 20180522 | 20180519 | |
| UniProtAcc | Q8N6C5 | O60469 | |
| Ensembl transtripts involved in fusion gene | ENST00000370910, ENST00000361420, ENST00000370903, ENST00000370904, ENST00000467244, ENST00000370900, ENST00000370901, | ENST00000400454, | |
| Fusion gene scores | * DoF score | 3 X 2 X 2=12 | 9 X 6 X 5=270 |
| # samples | 2 | 8 | |
| ** MAII score | log2(2/12*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(8/270*10)=-1.75488750216347 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: IGSF1 [Title/Abstract] AND DSCAM [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 | IGSF1 | GO:0006355 | regulation of transcription, DNA-templated | 11266516 |
| Hgene | IGSF1 | GO:0032926 | negative regulation of activin receptor signaling pathway | 11266516 |
| Tgene | DSCAM | GO:0042327 | positive regulation of phosphorylation | 19196994 |
| Tgene | DSCAM | GO:0048842 | positive regulation of axon extension involved in axon guidance | 18585357 |
| 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 |
| TCGA | LD | KIRC | TCGA-CJ-5681-01A | IGSF1 | chrX | 130712642 | - | DSCAM | chr21 | 41561165 | - |
| * 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-3CDS | ENST00000370910 | ENST00000400454 | IGSF1 | chrX | 130712642 | - | DSCAM | chr21 | 41561165 | - |
| intron-3CDS | ENST00000361420 | ENST00000400454 | IGSF1 | chrX | 130712642 | - | DSCAM | chr21 | 41561165 | - |
| intron-3CDS | ENST00000370903 | ENST00000400454 | IGSF1 | chrX | 130712642 | - | DSCAM | chr21 | 41561165 | - |
| intron-3CDS | ENST00000370904 | ENST00000400454 | IGSF1 | chrX | 130712642 | - | DSCAM | chr21 | 41561165 | - |
| intron-3CDS | ENST00000467244 | ENST00000400454 | IGSF1 | chrX | 130712642 | - | DSCAM | chr21 | 41561165 | - |
| intron-3CDS | ENST00000370900 | ENST00000400454 | IGSF1 | chrX | 130712642 | - | DSCAM | chr21 | 41561165 | - |
| intron-3CDS | ENST00000370901 | ENST00000400454 | IGSF1 | chrX | 130712642 | - | DSCAM | chr21 | 41561165 | - |
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FusionProtFeatures for IGSF1_DSCAM |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| IGSF1 | DSCAM |
| Seems to be a coreceptor in inhibin signaling, but seemsnot to be a high-affinity inhibin receptor. Antagonizes activin Asignaling in the presence or absence of inhibin B (By similarity).Necessary to mediate a specific antagonistic effect of inhibin Bon activin-stimulated transcription. {ECO:0000250,ECO:0000269|PubMed:11266516}. | 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}. |
| 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 IGSF1_DSCAM |
| 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 IGSF1_DSCAM |
| 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 |
| IGSF1 | IGF1, INHBA, INHBB, IGSF1, ACVR1, ACVR1B, ACVR2A, ACVR2B, ACVRL1, BMPR1B, BMPR1A, HECTD1, RANBP10 | DSCAM | LGR4 |
| - 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 IGSF1_DSCAM |
| 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 IGSF1_DSCAM |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | IGSF1 | C0010308 | Congenital Hypothyroidism | 1 | CTD_human |
| Hgene | IGSF1 | C0039584 | Testicular Diseases | 1 | CTD_human |
| Hgene | IGSF1 | C3550963 | HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT | 1 | ORPHANET;UNIPROT |
| Tgene | DSCAM | C0005586 | Bipolar Disorder | 1 | PSYGENET |
| Tgene | DSCAM | C0236969 | Substance-Related Disorders | 1 | CTD_human |
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