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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 |
| Enhancer-binding elongation factor that specificallybinds enhancers in embryonic stem cells (ES cells), marks them,and is required for their future activation during stem cellspecification. Does not only bind to enhancer regions of activegenes, but also marks the enhancers that are in a poised orinactive state in ES cells and is required for establishing properRNA polymerase II occupancy at developmentally regulated genes ina cohesin-dependent manner. Probably required for primingdevelopmentally regulated genes for later recruitment of the superelongation complex (SEC), for transcriptional activation duringdifferentiation. Required for recruitment of P-TEFb within SECduring differentiation. Probably preloaded on germ cell chromatin,suggesting that it may prime gene activation by marking enhancersas early as in the germ cells. Promoting epithelial-mesenchymaltransition (EMT) (By similarity). Elongation factor component ofthe super elongation complex (SEC), a complex required to increasethe catalytic rate of RNA polymerase II transcription bysuppressing transient pausing by the polymerase at multiple sitesalong the DNA. Component of the little elongation complex (LEC), acomplex required to regulate small nuclear RNA (snRNA) genetranscription by RNA polymerase II and III (PubMed:22195968).{ECO:0000250, ECO:0000269|PubMed:10882741,ECO:0000269|PubMed:22195968}. |
| 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 AMMECR1_ELL3 |
| 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 AMMECR1_ELL3 |
| 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 |
| - 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 AMMECR1_ELL3 |
| 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 AMMECR1_ELL3 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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