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Fusion gene ID: 15824 |
FusionGeneSummary for HAPLN1_EDIL3 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: HAPLN1_EDIL3 | Fusion gene ID: 15824 | Hgene | Tgene | Gene symbol | HAPLN1 | EDIL3 | Gene ID | 1404 | 10085 |
| Gene name | hyaluronan and proteoglycan link protein 1 | EGF like repeats and discoidin domains 3 | |
| Synonyms | CRT1|CRTL1 | DEL1 | |
| Cytomap | 5q14.3 | 5q14.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | hyaluronan and proteoglycan link protein 1Cartilage link proteincartilage-link proteincartilage-linking protein 1proteoglycan link protein | EGF-like repeat and discoidin I-like domain-containing protein 3EGF-like repeats and discoidin I-like domains 3developmental endothelial locus-1developmentally-regulated endothelial cell locus 1 proteinintegrin-binding protein DEL1 | |
| Modification date | 20180523 | 20180527 | |
| UniProtAcc | P10915 | O43854 | |
| Ensembl transtripts involved in fusion gene | ENST00000274341, ENST00000514416, | ENST00000296591, ENST00000380138, ENST00000510271, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 4 X 4 X 4=64 |
| # samples | 2 | 4 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(4/64*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: HAPLN1 [Title/Abstract] AND EDIL3 [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 |
| 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 | SKCM | TCGA-DA-A1I7-06A | HAPLN1 | chr5 | 83016608 | - | EDIL3 | chr5 | 83239387 | - |
| * 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 |
| 5UTR-3CDS | ENST00000274341 | ENST00000296591 | HAPLN1 | chr5 | 83016608 | - | EDIL3 | chr5 | 83239387 | - |
| 5UTR-3CDS | ENST00000274341 | ENST00000380138 | HAPLN1 | chr5 | 83016608 | - | EDIL3 | chr5 | 83239387 | - |
| 5UTR-intron | ENST00000274341 | ENST00000510271 | HAPLN1 | chr5 | 83016608 | - | EDIL3 | chr5 | 83239387 | - |
| intron-3CDS | ENST00000514416 | ENST00000296591 | HAPLN1 | chr5 | 83016608 | - | EDIL3 | chr5 | 83239387 | - |
| intron-3CDS | ENST00000514416 | ENST00000380138 | HAPLN1 | chr5 | 83016608 | - | EDIL3 | chr5 | 83239387 | - |
| intron-intron | ENST00000514416 | ENST00000510271 | HAPLN1 | chr5 | 83016608 | - | EDIL3 | chr5 | 83239387 | - |
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FusionProtFeatures for HAPLN1_EDIL3 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| HAPLN1 | EDIL3 |