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Fusion gene ID: 17702 |
FusionGeneSummary for IQSEC1_UCHL1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: IQSEC1_UCHL1 | Fusion gene ID: 17702 | Hgene | Tgene | Gene symbol | IQSEC1 | UCHL1 | Gene ID | 9922 | 7345 |
| Gene name | IQ motif and Sec7 domain 1 | ubiquitin C-terminal hydrolase L1 | |
| Synonyms | ARF-GEP100|ARFGEP100|BRAG2|GEP100 | HEL-117|HEL-S-53|NDGOA|PARK5|PGP 9.5|PGP9.5|PGP95|SPG79|Uch-L1 | |
| Cytomap | 3p25.2-p25.1 | 4p13 | |
| Type of gene | protein-coding | protein-coding | |
| Description | IQ motif and SEC7 domain-containing protein 1ADP-ribosylation factors guanine nucleotide-exchange protein 100ADP-ribosylation factors guanine nucleotide-exchange protein 2brefeldin A-resistant ARF-GEF2brefeldin-resistant Arf-GEF 2 protein | ubiquitin carboxyl-terminal hydrolase isozyme L1epididymis luminal protein 117epididymis secretory protein Li 53neuron cytoplasmic protein 9.5ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)ubiquitin thioesterase L1ubiquitin thioles | |
| Modification date | 20180519 | 20180527 | |
| UniProtAcc | Q6DN90 | P09936 | |
| Ensembl transtripts involved in fusion gene | ENST00000273221, ENST00000473088, | ENST00000503431, ENST00000284440, ENST00000504818, ENST00000508768, ENST00000512788, | |
| Fusion gene scores | * DoF score | 7 X 7 X 4=196 | 3 X 5 X 6=90 |
| # samples | 7 | 6 | |
| ** MAII score | log2(7/196*10)=-1.48542682717024 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(6/90*10)=-0.584962500721156 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: IQSEC1 [Title/Abstract] AND UCHL1 [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 |
| Tgene | UCHL1 | GO:0016579 | protein deubiquitination | 9521656 |
| Tgene | UCHL1 | GO:0043407 | negative regulation of MAP kinase activity | 19477270 |
| 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 | CK023998 | IQSEC1 | chr3 | 12938718 | - | UCHL1 | chr4 | 41270053 | + |
| * 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 |
| Frame-shift | ENST00000273221 | ENST00000503431 | IQSEC1 | chr3 | 12938718 | - | UCHL1 | chr4 | 41270053 | + |
| In-frame | ENST00000273221 | ENST00000284440 | IQSEC1 | chr3 | 12938718 | - | UCHL1 | chr4 | 41270053 | + |
| 5CDS-intron | ENST00000273221 | ENST00000504818 | IQSEC1 | chr3 | 12938718 | - | UCHL1 | chr4 | 41270053 | + |
| 5CDS-intron | ENST00000273221 | ENST00000508768 | IQSEC1 | chr3 | 12938718 | - | UCHL1 | chr4 | 41270053 | + |
| 5CDS-intron | ENST00000273221 | ENST00000512788 | IQSEC1 | chr3 | 12938718 | - | UCHL1 | chr4 | 41270053 | + |
| intron-3CDS | ENST00000473088 | ENST00000503431 | IQSEC1 | chr3 | 12938718 | - | UCHL1 | chr4 | 41270053 | + |
| intron-3CDS | ENST00000473088 | ENST00000284440 | IQSEC1 | chr3 | 12938718 | - | UCHL1 | chr4 | 41270053 | + |
| intron-intron | ENST00000473088 | ENST00000504818 | IQSEC1 | chr3 | 12938718 | - | UCHL1 | chr4 | 41270053 | + |
| intron-intron | ENST00000473088 | ENST00000508768 | IQSEC1 | chr3 | 12938718 | - | UCHL1 | chr4 | 41270053 | + |
| intron-intron | ENST00000473088 | ENST00000512788 | IQSEC1 | chr3 | 12938718 | - | UCHL1 | chr4 | 41270053 | + |
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FusionProtFeatures for IQSEC1_UCHL1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| IQSEC1 | UCHL1 |