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Fusion gene ID: 1615 |
FusionGeneSummary for AMMECR1_ELL3 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: AMMECR1_ELL3 | Fusion gene ID: 1615 | Hgene | Tgene | Gene symbol | AMMECR1 | ELL3 | Gene ID | 9949 | 80237 |
| Gene name | Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1 | elongation factor for RNA polymerase II 3 | |
| Synonyms | AMMERC1|MFHIEN | - | |
| Cytomap | Xq23 | 15q15.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | AMME syndrome candidate gene 1 proteinAlport syndrome mental retardation midface hypoplasia and elliptocytosis chromosomal region protein 1 | RNA polymerase II elongation factor ELL3elongation factor RNA polymerase II-like 3 | |
| Modification date | 20180519 | 20180519 | |
| UniProtAcc | Q9Y4X0 | Q9HB65 | |
| Ensembl transtripts involved in fusion gene | ENST00000262844, ENST00000372059, ENST00000372057, ENST00000496695, | ENST00000319359, ENST00000497465, | |
| Fusion gene scores | * DoF score | 3 X 3 X 2=18 | 4 X 5 X 1=20 |
| # samples | 3 | 5 | |
| ** MAII score | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(5/20*10)=1.32192809488736 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: AMMECR1 [Title/Abstract] AND ELL3 [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 | ELL3 | GO:0006354 | DNA-templated transcription, elongation | 10882741 |
| Tgene | ELL3 | GO:0006368 | transcription elongation from RNA polymerase II promoter | 10882741 |
| Tgene | ELL3 | GO:0032786 | positive regulation of DNA-templated transcription, elongation | 10882741 |
| Tgene | ELL3 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 10882741 |
| 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 | BE171379 | AMMECR1 | chrX | 109657370 | - | ELL3 | chr15 | 44086050 | - |
| * 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-intron | ENST00000262844 | ENST00000319359 | AMMECR1 | chrX | 109657370 | - | ELL3 | chr15 | 44086050 | - |
| intron-intron | ENST00000262844 | ENST00000497465 | AMMECR1 | chrX | 109657370 | - | ELL3 | chr15 | 44086050 | - |
| intron-intron | ENST00000372059 | ENST00000319359 | AMMECR1 | chrX | 109657370 | - | ELL3 | chr15 | 44086050 | - |
| intron-intron | ENST00000372059 | ENST00000497465 | AMMECR1 | chrX | 109657370 | - | ELL3 | chr15 | 44086050 | - |
| intron-intron | ENST00000372057 | ENST00000319359 | AMMECR1 | chrX | 109657370 | - | ELL3 | chr15 | 44086050 | - |
| intron-intron | ENST00000372057 | ENST00000497465 | AMMECR1 | chrX | 109657370 | - | ELL3 | chr15 | 44086050 | - |
| intron-intron | ENST00000496695 | ENST00000319359 | AMMECR1 | chrX | 109657370 | - | ELL3 | chr15 | 44086050 | - |
| intron-intron | ENST00000496695 | ENST00000497465 | AMMECR1 | chrX | 109657370 | - | ELL3 | chr15 | 44086050 | - |
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FusionProtFeatures for AMMECR1_ELL3 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| AMMECR1 | ELL3 |