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Fusion Protein:ZNF480-ELL |
Fusion Gene and Fusion Protein Summary |
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Fusion partner gene information | Fusion gene name: ZNF480-ELL | FusionPDB ID: 102184 | FusionGDB2.0 ID: 102184 | Hgene | Tgene | Gene symbol | ZNF480 | ELL | Gene ID | 147657 | 8178 |
Gene name | zinc finger protein 480 | elongation factor for RNA polymerase II | |
Synonyms | - | C19orf17|ELL1|MEN|PPP1R68 | |
Cytomap | 19q13.41 | 19p13.11 | |
Type of gene | protein-coding | protein-coding | |
Description | zinc finger protein 480 | RNA polymerase II elongation factor ELLELL gene (11-19 lysine-rich leukemia gene)ELL/KMT2A fusionELL/KMT2A fusion proteinKMT2A/ELL fusionKMT2A/ELL fusion proteineleven-nineteen lysine-rich leukemia proteinelongation factor RNA polymerase IIprotein | |
Modification date | 20200313 | 20200319 | |
UniProtAcc | . | O00472 Main function of 5'-partner protein: FUNCTION: Elongation factor component of the super elongation complex (SEC), a complex required to increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA. Component of the little elongation complex (LEC), a complex required to regulate small nuclear RNA (snRNA) gene transcription by RNA polymerase II and III (PubMed:22195968). Plays a role in immunoglobulin secretion in plasma cells: directs efficient alternative mRNA processing, influencing both proximal poly(A) site choice and exon skipping, as well as immunoglobulin heavy chain (IgH) alternative processing. Probably acts by regulating histone modifications accompanying transition from membrane-specific to secretory IgH mRNA expression. {ECO:0000269|PubMed:20159561, ECO:0000269|PubMed:20471948, ECO:0000269|PubMed:22195968, ECO:0000269|PubMed:23251033}. | |
Ensembl transtripts involved in fusion gene | ENST ids | ENST00000335090, ENST00000595962, ENST00000334564, ENST00000490272, | ENST00000262809, ENST00000596124, |
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 4 X 2 X 4=32 | 11 X 17 X 7=1309 |
# samples | 4 | 21 | |
** MAII score | log2(4/32*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(21/1309*10)=-2.64000386427912 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Fusion gene context | PubMed: ZNF480 [Title/Abstract] AND ELL [Title/Abstract] AND fusion [Title/Abstract] | ||
Fusion neoantigen context | PubMed: ZNF480 [Title/Abstract] AND ELL [Title/Abstract] AND neoantigen [Title/Abstract] | ||
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | ZNF480(52819215)-ELL(18572662), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. | ZNF480-ELL seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. ZNF480-ELL seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. ZNF480-ELL seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. ZNF480-ELL seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. |
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Tgene | ELL | GO:0010923 | negative regulation of phosphatase activity | 19389623 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr19:52819215/chr19:18572662) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Fusion Amino Acid Sequences |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
ENST00000595962 | ZNF480 | chr19 | 52819215 | + | ENST00000262809 | ELL | chr19 | 18572662 | - | 3880 | 394 | 66 | 1790 | 574 |
ENST00000595962 | ZNF480 | chr19 | 52819215 | + | ENST00000596124 | ELL | chr19 | 18572662 | - | 1792 | 394 | 66 | 1790 | 574 |
ENST00000335090 | ZNF480 | chr19 | 52819215 | + | ENST00000262809 | ELL | chr19 | 18572662 | - | 3706 | 220 | 108 | 1616 | 502 |
ENST00000335090 | ZNF480 | chr19 | 52819215 | + | ENST00000596124 | ELL | chr19 | 18572662 | - | 1618 | 220 | 108 | 1616 | 502 |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
ENST00000595962 | ENST00000262809 | ZNF480 | chr19 | 52819215 | + | ELL | chr19 | 18572662 | - | 0.012542358 | 0.9874577 |
ENST00000595962 | ENST00000596124 | ZNF480 | chr19 | 52819215 | + | ELL | chr19 | 18572662 | - | 0.059413243 | 0.94058675 |
ENST00000335090 | ENST00000262809 | ZNF480 | chr19 | 52819215 | + | ELL | chr19 | 18572662 | - | 0.015285355 | 0.9847147 |
ENST00000335090 | ENST00000596124 | ZNF480 | chr19 | 52819215 | + | ELL | chr19 | 18572662 | - | 0.069568254 | 0.9304317 |
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Get the fusion protein sequences from here. |
Fusion protein sequence information is available in the fasta format. >FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP |
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Fusion Protein Breakpoint Sequences for ZNF480-ELL |
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Hgene | Hchr | Hbp | Tgene | Tchr | Tbp | Length(fusion protein) | BP in fusion protein | Peptide |
ZNF480 | chr19 | 52819215 | ELL | chr19 | 18572662 | 220 | 37 | NSDGRECIKGVNTGKKVQFRKPAPGA |
ZNF480 | chr19 | 52819215 | ELL | chr19 | 18572662 | 394 | 109 | NSDGRECIKGVNTGKKVQFRKPAPGA |
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Potential FusionNeoAntigen Information of ZNF480-ELL in HLA I |
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ZNF480-ELL_52819215_18572662.msa |
![]() * We used NetMHCpan v4.1 (%rank<0.5) and deepHLApan v1.1 (immunogenic score>0.5) |
Fusion gene | Hchr | Hbp | Tgene | Tchr | Tbp | HLA I | FusionNeoAntigen peptide | Binding score | Immunogenic score | Neoantigen start (at BP 13) | Neoantigen end (at BP 13) |
ZNF480-ELL | chr19 | 52819215 | chr19 | 18572662 | 220 | HLA-A03:12 | RECIKGVNTGK | 0.9871 | 0.5883 | 4 | 15 |
ZNF480-ELL | chr19 | 52819215 | chr19 | 18572662 | 220 | HLA-A03:25 | RECIKGVNTGK | 0.9861 | 0.5549 | 4 | 15 |
ZNF480-ELL | chr19 | 52819215 | chr19 | 18572662 | 220 | HLA-A03:01 | RECIKGVNTGK | 0.9861 | 0.5549 | 4 | 15 |
ZNF480-ELL | chr19 | 52819215 | chr19 | 18572662 | 220 | HLA-A30:01 | TGKKVQFRK | 0.9721 | 0.6477 | 12 | 21 |
ZNF480-ELL | chr19 | 52819215 | chr19 | 18572662 | 220 | HLA-A30:01 | RECIKGVNTGK | 0.9967 | 0.8851 | 4 | 15 |
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Potential FusionNeoAntigen Information of ZNF480-ELL in HLA II |
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![]() * We used NetMHCIIpan v4.1 (%rank<0.5). |
Fusion gene | Hchr | Hbp | Tgene | Tchr | Tbp | HLA II | FusionNeoAntigen peptide | Neoantigen start (at BP 13) | Neoantigen end (at BP 13) |
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Fusion breakpoint peptide structures of ZNF480-ELL |
![]() * The minimum length of the amino acid sequence in RoseTTAFold is 14AA. Here, we predicted the 14AA fusion protein breakpoint sequence not the fusion neoantigen peptide, which is shorter than 14 AA. |
File name | BPseq | Hgene | Tgene | Hchr | Hbp | Tchr | Tbp | AAlen |
843 | CIKGVNTGKKVQFR | ZNF480 | ELL | chr19 | 52819215 | chr19 | 18572662 | 220 |
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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of ZNF480-ELL |
![]() * We used Glide to predict the interaction between HLAs and neoantigens. |
HLA allele | PDB ID | File name | BPseq | Docking score | Glide score |
HLA-B14:02 | 3BVN | 843 | CIKGVNTGKKVQFR | -7.9962 | -8.1096 |
HLA-B14:02 | 3BVN | 843 | CIKGVNTGKKVQFR | -5.70842 | -6.74372 |
HLA-B52:01 | 3W39 | 843 | CIKGVNTGKKVQFR | -6.83737 | -6.95077 |
HLA-B52:01 | 3W39 | 843 | CIKGVNTGKKVQFR | -4.4836 | -5.5189 |
HLA-A11:01 | 4UQ2 | 843 | CIKGVNTGKKVQFR | -10.0067 | -10.1201 |
HLA-A11:01 | 4UQ2 | 843 | CIKGVNTGKKVQFR | -9.03915 | -10.0745 |
HLA-A24:02 | 5HGA | 843 | CIKGVNTGKKVQFR | -6.56204 | -6.67544 |
HLA-A24:02 | 5HGA | 843 | CIKGVNTGKKVQFR | -5.42271 | -6.45801 |
HLA-B44:05 | 3DX8 | 843 | CIKGVNTGKKVQFR | -7.85648 | -8.89178 |
HLA-B44:05 | 3DX8 | 843 | CIKGVNTGKKVQFR | -5.3978 | -5.5112 |
HLA-A02:01 | 6TDR | 843 | CIKGVNTGKKVQFR | -3.37154 | -4.40684 |
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Vaccine Design for the FusionNeoAntigens of ZNF480-ELL |
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Fusion gene | Hchr | Hbp | Tchr | Tbp | Start in +/-13AA | End in +/-13AA | FusionNeoAntigen peptide sequence | FusionNeoAntigen RNA sequence |
ZNF480-ELL | chr19 | 52819215 | chr19 | 18572662 | 12 | 21 | TGKKVQFRK | CAGGCAAGAAGGTTCAGTTTCGGAAAC |
ZNF480-ELL | chr19 | 52819215 | chr19 | 18572662 | 4 | 15 | RECIKGVNTGK | GGGAGTGCATCAAAGGTGTGAACACAGGCAAGA |
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Fusion gene | Hchr | Hbp | Tchr | Tbp | Start in +/-13AA | End in +/-13AA | FusionNeoAntigen peptide | FusionNEoAntigen RNA sequence |
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Information of the samples that have these potential fusion neoantigens of ZNF480-ELL |
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Cancer type | Fusion gene | Hchr | Hbp | Henst | Tchr | Tbp | Tenst | Sample |
STAD | ZNF480-ELL | chr19 | 52819215 | ENST00000335090 | chr19 | 18572662 | ENST00000262809 | TCGA-HF-7134 |
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Potential target of CAR-T therapy development for ZNF480-ELL |
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![]() * Minus value of BPloci means that the break point is located before the CDS. |
- In-frame and retained 'Transmembrane'. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
![]() * We used DeepLoc 1.0. The order of the X-axis of the barplot is as follows: Entry_ID, Localization, Type, Nucleus, Cytoplasm, Extracellular, Mitochondrion, Cell_membrane, Endoplasmic_reticulum, Plastid, Golgi.apparatus, Lysosome.Vacuole, Peroxisome. Y-axis is the output score of DeepLoc. Clicking the image will open a new tab with a large image. |
Hgene | Hchr | Hbp | Henst | Tgene | Tchr | Tbp | Tenst | DeepLoc result |
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Related Drugs to ZNF480-ELL |
![]() (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Drug | Source | PMID |
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Related Diseases to ZNF480-ELL |
![]() (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Disease | Source | PMID |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |