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Fusion gene ID: 40434 |
FusionGeneSummary for UBE2H_LMX1A |
Fusion gene summary |
| Fusion gene information | Fusion gene name: UBE2H_LMX1A | Fusion gene ID: 40434 | Hgene | Tgene | Gene symbol | UBE2H | LMX1A | Gene ID | 7328 | 4009 |
| Gene name | ubiquitin conjugating enzyme E2 H | LIM homeobox transcription factor 1 alpha | |
| Synonyms | E2-20K|GID3|UBC8|UBCH|UBCH2 | LMX1|LMX1.1 | |
| Cytomap | 7q32.2 | 1q23.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | ubiquitin-conjugating enzyme E2 H(E3-independent) E2 ubiquitin-conjugating enzyme HE2 ubiquitin-conjugating enzyme HGID complex subunit 3, UBC8 homologubiquitin carrier protein Hubiquitin conjugating enzyme E2Hubiquitin-conjugating enzyme E2-20Kubi | LIM homeobox transcription factor 1-alphaLIM/homeobox protein 1.1 | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | P62256 | Q8TE12 | |
| Ensembl transtripts involved in fusion gene | ENST00000355621, ENST00000473814, | ENST00000342310, ENST00000294816, ENST00000367893, ENST00000489443, | |
| Fusion gene scores | * DoF score | 6 X 8 X 4=192 | 3 X 2 X 2=12 |
| # samples | 11 | 3 | |
| ** MAII score | log2(11/192*10)=-0.803602787196497 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/12*10)=1.32192809488736 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: UBE2H [Title/Abstract] AND LMX1A [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 | UBE2H | GO:0070936 | protein K48-linked ubiquitination | 20061386 |
| Hgene | UBE2H | GO:0070979 | protein K11-linked ubiquitination | 20061386 |
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 | RV | SARC | TCGA-DX-A6BH-01A | UBE2H | chr7 | 129588799 | - | LMX1A | chr1 | 165183050 | - |
| * 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 | ENST00000355621 | ENST00000342310 | UBE2H | chr7 | 129588799 | - | LMX1A | chr1 | 165183050 | - |
| intron-3CDS | ENST00000355621 | ENST00000294816 | UBE2H | chr7 | 129588799 | - | LMX1A | chr1 | 165183050 | - |
| intron-3CDS | ENST00000355621 | ENST00000367893 | UBE2H | chr7 | 129588799 | - | LMX1A | chr1 | 165183050 | - |
| intron-intron | ENST00000355621 | ENST00000489443 | UBE2H | chr7 | 129588799 | - | LMX1A | chr1 | 165183050 | - |
| intron-3CDS | ENST00000473814 | ENST00000342310 | UBE2H | chr7 | 129588799 | - | LMX1A | chr1 | 165183050 | - |
| intron-3CDS | ENST00000473814 | ENST00000294816 | UBE2H | chr7 | 129588799 | - | LMX1A | chr1 | 165183050 | - |
| intron-3CDS | ENST00000473814 | ENST00000367893 | UBE2H | chr7 | 129588799 | - | LMX1A | chr1 | 165183050 | - |
| intron-intron | ENST00000473814 | ENST00000489443 | UBE2H | chr7 | 129588799 | - | LMX1A | chr1 | 165183050 | - |
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FusionProtFeatures for UBE2H_LMX1A |
Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| UBE2H | LMX1A |