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Fusion Protein:NSD1-EFNA5 |
Fusion Protein Summary |
 Fusion gene summary |
| Fusion partner gene information | Fusion gene name: NSD1-EFNA5 | FusionPDB ID: 60417 | FusionGDB2.0 ID: 60417 | Hgene | Tgene | Gene symbol | NSD1 | EFNA5 | Gene ID | 64324 | 1946 |
| Gene name | nuclear receptor binding SET domain protein 1 | ephrin A5 | |
| Synonyms | ARA267|KMT3B|SOTOS|SOTOS1|STO | AF1|EFL5|EPLG7|GLC1M|LERK7|RAGS | |
| Cytomap | 5q35.3 | 5q21.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specificH3-K36-HMTaseH4-K20-HMTaseNR-binding SET domain-containing proteinandrogen receptor coactivator 267 kDa proteinandrogen receptor-associated coregulator 267androgen receptor-as | ephrin-A5AL-1LERK-7eph-related receptor tyrosine kinase ligand 7 | |
| Modification date | 20200321 | 20200313 | |
| UniProtAcc | . | P52803 | |
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000347982, ENST00000354179, ENST00000439151, ENST00000361032, ENST00000511258, | ENST00000510359, ENST00000333274, ENST00000509503, |
| Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 23 X 14 X 17=5474 | 5 X 3 X 4=60 |
| # samples | 37 | 6 | |
| ** MAII score | log2(37/5474*10)=-3.88699825884864 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(6/60*10)=0 | |
| Context (manual curation of fusion genes in FusionPDB) | PubMed: NSD1 [Title/Abstract] AND EFNA5 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | NSD1(176619020)-EFNA5(106717077), # samples:4 | ||
| Anticipated loss of major functional domain due to fusion event. | NSD1-EFNA5 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. NSD1-EFNA5 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. NSD1-EFNA5 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF. NSD1-EFNA5 seems lost the major protein functional domain in Hgene partner, which is a epigenetic factor due to the frame-shifted ORF. NSD1-EFNA5 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. NSD1-EFNA5 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF. NSD1-EFNA5 seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor due to the frame-shifted ORF. | ||
| * 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 | NSD1 | GO:0045893 | positive regulation of transcription, DNA-templated | 11509567 |
| Tgene | EFNA5 | GO:0006915 | apoptotic process | 11870224 |
| Tgene | EFNA5 | GO:0022407 | regulation of cell-cell adhesion | 11870224 |
| Tgene | EFNA5 | GO:0022604 | regulation of cell morphogenesis | 23242526 |
| Tgene | EFNA5 | GO:0032956 | regulation of actin cytoskeleton organization | 11870224 |
| Tgene | EFNA5 | GO:0043087 | regulation of GTPase activity | 11870224 |
| Tgene | EFNA5 | GO:0048013 | ephrin receptor signaling pathway | 11870224 |
| Tgene | EFNA5 | GO:0051893 | regulation of focal adhesion assembly | 11870224 |
| Tgene | EFNA5 | GO:0070507 | regulation of microtubule cytoskeleton organization | 11870224 |
| Tgene | EFNA5 | GO:1900025 | negative regulation of substrate adhesion-dependent cell spreading | 23242526 |
| Fusion gene breakpoints across NSD1 (5'-gene) * 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 gene breakpoints across EFNA5 (3'-gene) * 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 Gene Sample Information |
| Fusion gene information from FusionGDB2.0. |
| Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0) * 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. |
| Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChimerDB4 | ACC | TCGA-OR-A5JS-01A | NSD1 | chr5 | 176619020 | - | EFNA5 | chr5 | 106717077 | - |
| ChimerDB4 | ACC | TCGA-OR-A5JS-01A | NSD1 | chr5 | 176619020 | + | EFNA5 | chr5 | 106717077 | - |
| ChimerDB4 | ACC | TCGA-OR-A5JS | NSD1 | chr5 | 176619020 | + | EFNA5 | chr5 | 106717077 | - |
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Fusion ORF Analysis |
| Fusion information from ORFfinder translation from full-length transcript sequence from FusionPDB. |
| 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) |
| ENST00000354179 | NSD1 | chr5 | 176619020 | + | ENST00000509503 | EFNA5 | chr5 | 106717077 | - | 555 | 416 | 160 | 537 | 125 |
| ENST00000439151 | NSD1 | chr5 | 176619020 | + | ENST00000509503 | EFNA5 | chr5 | 106717077 | - | 1247 | 1108 | 45 | 1229 | 394 |
| ENST00000347982 | NSD1 | chr5 | 176619020 | + | ENST00000509503 | EFNA5 | chr5 | 106717077 | - | 496 | 357 | 101 | 478 | 125 |
| DeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
| ENST00000354179 | ENST00000509503 | NSD1 | chr5 | 176619020 | + | EFNA5 | chr5 | 106717077 | - | 0.028772945 | 0.9712271 |
| ENST00000439151 | ENST00000509503 | NSD1 | chr5 | 176619020 | + | EFNA5 | chr5 | 106717077 | - | 0.001253973 | 0.99874604 |
| ENST00000347982 | ENST00000509503 | NSD1 | chr5 | 176619020 | + | EFNA5 | chr5 | 106717077 | - | 0.034692794 | 0.9653072 |
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Fusion Amino Acid Sequences |
| For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
| >FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP >60417_60417_1_NSD1-EFNA5_NSD1_chr5_176619020_ENST00000347982_EFNA5_chr5_106717077_ENST00000509503_length(amino acids)=125AA_BP=85 MPLKTRTALSDDPDSSTSTLGNMLELPGTSSSSTSQELPFCQPKKKSTPLKYEVGDLIWAKFKRRPWWPCRICSDPLINTHSKMKDDTVH -------------------------------------------------------------- >60417_60417_2_NSD1-EFNA5_NSD1_chr5_176619020_ENST00000354179_EFNA5_chr5_106717077_ENST00000509503_length(amino acids)=125AA_BP=85 MPLKTRTALSDDPDSSTSTLGNMLELPGTSSSSTSQELPFCQPKKKSTPLKYEVGDLIWAKFKRRPWWPCRICSDPLINTHSKMKDDTVH -------------------------------------------------------------- >60417_60417_3_NSD1-EFNA5_NSD1_chr5_176619020_ENST00000439151_EFNA5_chr5_106717077_ENST00000509503_length(amino acids)=394AA_BP=354 MDQTCELPRRNCLLPFSNPVNLDAPEDKDSPFGNGQSNFSEPLNGCTMQLSTVSGTSQNAYGQDSPSCYIPLRRLQDLASMINVEYLNGS ADGSESFQDPEKSDSRAQTPIVCTSLSPGGPTALAMKQEPSCNNSPELQVKVTKTIKNGFLHFENFTCVDDADVDSEMDPEQPVTEDESI EEIFEETQTNATCNYETKSENGVKVAMGSEQDSTPESRHGAVKSPFLPLAPQTETQKNKQRNEVDGSNEKAALLPAPFSLGDTNITIEEQ LNSINLSFQDDPDSSTSTLGNMLELPGTSSSSTSQELPFCQPKKKSTPLKYEVGDLIWAKFKRRPWWPCRICSDPLINTHSKMKDDTVHE -------------------------------------------------------------- |
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Fusion Protein Functional Features |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr5:176619020/chr5:106717077) - 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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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| . | EFNA5 |
| FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes. | FUNCTION: Cell surface GPI-bound ligand for Eph receptors, a family of receptor tyrosine kinases which are crucial for migration, repulsion and adhesion during neuronal, vascular and epithelial development. Binds promiscuously Eph receptors residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. Induces compartmentalized signaling within a caveolae-like membrane microdomain when bound to the extracellular domain of its cognate receptor. This signaling event requires the activity of the Fyn tyrosine kinase. Activates the EPHA3 receptor to regulate cell-cell adhesion and cytoskeletal organization. With the receptor EPHA2 may regulate lens fiber cells shape and interactions and be important for lens transparency maintenance. May function actively to stimulate axon fasciculation. The interaction of EFNA5 with EPHA5 also mediates communication between pancreatic islet cells to regulate glucose-stimulated insulin secretion. Cognate/functional ligand for EPHA7, their interaction regulates brain development modulating cell-cell adhesion and repulsion. {ECO:0000269|PubMed:10601038, ECO:0000269|PubMed:11870224}. |
| 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. |
| - 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 |
| - 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 |
| Hgene | NSD1 | chr5:176619020 | chr5:106717077 | ENST00000347982 | + | 4 | 24 | 2207_2421 | 85.33333333333333 | 2428.0 | Compositional bias | Note=Pro-rich |
| Hgene | NSD1 | chr5:176619020 | chr5:106717077 | ENST00000354179 | + | 4 | 24 | 2207_2421 | 85.33333333333333 | 2428.0 | Compositional bias | Note=Pro-rich |
| Hgene | NSD1 | chr5:176619020 | chr5:106717077 | ENST00000361032 | + | 1 | 20 | 2207_2421 | 0.0 | 2594.0 | Compositional bias | Note=Pro-rich |
| Hgene | NSD1 | chr5:176619020 | chr5:106717077 | ENST00000439151 | + | 3 | 23 | 2207_2421 | 354.3333333333333 | 2697.0 | Compositional bias | Note=Pro-rich |
| Hgene | NSD1 | chr5:176619020 | chr5:106717077 | ENST00000347982 | + | 4 | 24 | 1756_1818 | 85.33333333333333 | 2428.0 | Domain | PWWP 2 |
| Hgene | NSD1 | chr5:176619020 | chr5:106717077 | ENST00000347982 | + | 4 | 24 | 1890_1940 | 85.33333333333333 | 2428.0 | Domain | AWS |
| Hgene | NSD1 | chr5:176619020 | chr5:106717077 | ENST00000347982 | + | 4 | 24 | 1942_2059 | 85.33333333333333 | 2428.0 | Domain | SET |
| Hgene | NSD1 | chr5:176619020 | chr5:106717077 | ENST00000347982 | + | 4 | 24 | 2066_2082 | 85.33333333333333 | 2428.0 | Domain | Post-SET |
| Hgene | NSD1 | chr5:176619020 | chr5:106717077 | ENST00000347982 | + | 4 | 24 | 323_388 | 85.33333333333333 | 2428.0 | Domain | PWWP 1 |
| Hgene | NSD1 | chr5:176619020 | chr5:106717077 | ENST00000354179 | + | 4 | 24 | 1756_1818 | 85.33333333333333 | 2428.0 | Domain | PWWP 2 |
| Hgene | NSD1 | chr5:176619020 | chr5:106717077 | ENST00000354179 | + | 4 | 24 | 1890_1940 | 85.33333333333333 | 2428.0 | Domain | AWS |
| Hgene | NSD1 | chr5:176619020 | chr5:106717077 | ENST00000354179 | + | 4 | 24 | 1942_2059 | 85.33333333333333 | 2428.0 | Domain | SET |
| Hgene | NSD1 | chr5:176619020 | chr5:106717077 | ENST00000354179 | + | 4 | 24 | 2066_2082 | 85.33333333333333 | 2428.0 | Domain | Post-SET |
| Hgene | NSD1 | chr5:176619020 | chr5:106717077 | ENST00000354179 | + | 4 | 24 | 323_388 | 85.33333333333333 | 2428.0 | Domain | PWWP 1 |
| Hgene | NSD1 | chr5:176619020 | chr5:106717077 | ENST00000361032 | + | 1 | 20 | 1756_1818 | 0.0 | 2594.0 | Domain | PWWP 2 |
| Hgene | NSD1 | chr5:176619020 | chr5:106717077 | ENST00000361032 | + | 1 | 20 | 1890_1940 | 0.0 | 2594.0 | Domain | AWS |
| Hgene | NSD1 | chr5:176619020 | chr5:106717077 | ENST00000361032 | + | 1 | 20 | 1942_2059 | 0.0 | 2594.0 | Domain | SET |
| Hgene | NSD1 | chr5:176619020 | chr5:106717077 | ENST00000361032 | + | 1 | 20 | 2066_2082 | 0.0 | 2594.0 | Domain | Post-SET |
| Hgene | NSD1 | chr5:176619020 | chr5:106717077 | ENST00000361032 | + | 1 | 20 | 323_388 | 0.0 | 2594.0 | Domain | PWWP 1 |
| Hgene | NSD1 | chr5:176619020 | chr5:106717077 | ENST00000439151 | + | 3 | 23 | 1756_1818 | 354.3333333333333 | 2697.0 | Domain | PWWP 2 |
| Hgene | NSD1 | chr5:176619020 | chr5:106717077 | ENST00000439151 | + | 3 | 23 | 1890_1940 | 354.3333333333333 | 2697.0 | Domain | AWS |
| Hgene | NSD1 | chr5:176619020 | chr5:106717077 | ENST00000439151 | + | 3 | 23 | 1942_2059 | 354.3333333333333 | 2697.0 | Domain | SET |
| Hgene | NSD1 | chr5:176619020 | chr5:106717077 | ENST00000439151 | + | 3 | 23 | 2066_2082 | 354.3333333333333 | 2697.0 | Domain | Post-SET |
| Hgene | NSD1 | chr5:176619020 | chr5:106717077 | ENST00000439151 | + | 3 | 23 | 323_388 | 354.3333333333333 | 2697.0 | Domain | PWWP 1 |
| Hgene | NSD1 | chr5:176619020 | chr5:106717077 | ENST00000347982 | + | 4 | 24 | 1952_1954 | 85.33333333333333 | 2428.0 | Region | Note=S-adenosyl-L-methionine binding |
| Hgene | NSD1 | chr5:176619020 | chr5:106717077 | ENST00000347982 | + | 4 | 24 | 1994_1997 | 85.33333333333333 | 2428.0 | Region | Note=S-adenosyl-L-methionine binding |
| Hgene | NSD1 | chr5:176619020 | chr5:106717077 | ENST00000347982 | + | 4 | 24 | 2020_2021 | 85.33333333333333 | 2428.0 | Region | Note=S-adenosyl-L-methionine binding |
| Hgene | NSD1 | chr5:176619020 | chr5:106717077 | ENST00000347982 | + | 4 | 24 | 2060_2066 | 85.33333333333333 | 2428.0 | Region | Note=Inhibits enzyme activity in the absence of bound histone |
| Hgene | NSD1 | chr5:176619020 | chr5:106717077 | ENST00000354179 | + | 4 | 24 | 1952_1954 | 85.33333333333333 | 2428.0 | Region | Note=S-adenosyl-L-methionine binding |
| Hgene | NSD1 | chr5:176619020 | chr5:106717077 | ENST00000354179 | + | 4 | 24 | 1994_1997 | 85.33333333333333 | 2428.0 | Region | Note=S-adenosyl-L-methionine binding |
| Hgene | NSD1 | chr5:176619020 | chr5:106717077 | ENST00000354179 | + | 4 | 24 | 2020_2021 | 85.33333333333333 | 2428.0 | Region | Note=S-adenosyl-L-methionine binding |
| Hgene | NSD1 | chr5:176619020 | chr5:106717077 | ENST00000354179 | + | 4 | 24 | 2060_2066 | 85.33333333333333 | 2428.0 | Region | Note=Inhibits enzyme activity in the absence of bound histone |
| Hgene | NSD1 | chr5:176619020 | chr5:106717077 | ENST00000361032 | + | 1 | 20 | 1952_1954 | 0.0 | 2594.0 | Region | Note=S-adenosyl-L-methionine binding |
| Hgene | NSD1 | chr5:176619020 | chr5:106717077 | ENST00000361032 | + | 1 | 20 | 1994_1997 | 0.0 | 2594.0 | Region | Note=S-adenosyl-L-methionine binding |
| Hgene | NSD1 | chr5:176619020 | chr5:106717077 | ENST00000361032 | + | 1 | 20 | 2020_2021 | 0.0 | 2594.0 | Region | Note=S-adenosyl-L-methionine binding |
| Hgene | NSD1 | chr5:176619020 | chr5:106717077 | ENST00000361032 | + | 1 | 20 | 2060_2066 | 0.0 | 2594.0 | Region | Note=Inhibits enzyme activity in the absence of bound histone |
| Hgene | NSD1 | chr5:176619020 | chr5:106717077 | ENST00000439151 | + | 3 | 23 | 1952_1954 | 354.3333333333333 | 2697.0 | Region | Note=S-adenosyl-L-methionine binding |
| Hgene | NSD1 | chr5:176619020 | chr5:106717077 | ENST00000439151 | + | 3 | 23 | 1994_1997 | 354.3333333333333 | 2697.0 | Region | Note=S-adenosyl-L-methionine binding |
| Hgene | NSD1 | chr5:176619020 | chr5:106717077 | ENST00000439151 | + | 3 | 23 | 2020_2021 | 354.3333333333333 | 2697.0 | Region | Note=S-adenosyl-L-methionine binding |
| Hgene | NSD1 | chr5:176619020 | chr5:106717077 | ENST00000439151 | + | 3 | 23 | 2060_2066 | 354.3333333333333 | 2697.0 | Region | Note=Inhibits enzyme activity in the absence of bound histone |
| Hgene | NSD1 | chr5:176619020 | chr5:106717077 | ENST00000347982 | + | 4 | 24 | 1543_1589 | 85.33333333333333 | 2428.0 | Zinc finger | PHD-type 1 |
| Hgene | NSD1 | chr5:176619020 | chr5:106717077 | ENST00000347982 | + | 4 | 24 | 1590_1646 | 85.33333333333333 | 2428.0 | Zinc finger | PHD-type 2 |
| Hgene | NSD1 | chr5:176619020 | chr5:106717077 | ENST00000347982 | + | 4 | 24 | 1707_1751 | 85.33333333333333 | 2428.0 | Zinc finger | PHD-type 3 |
| Hgene | NSD1 | chr5:176619020 | chr5:106717077 | ENST00000347982 | + | 4 | 24 | 2118_2165 | 85.33333333333333 | 2428.0 | Zinc finger | PHD-type 4%3B atypical |
| Hgene | NSD1 | chr5:176619020 | chr5:106717077 | ENST00000354179 | + | 4 | 24 | 1543_1589 | 85.33333333333333 | 2428.0 | Zinc finger | PHD-type 1 |
| Hgene | NSD1 | chr5:176619020 | chr5:106717077 | ENST00000354179 | + | 4 | 24 | 1590_1646 | 85.33333333333333 | 2428.0 | Zinc finger | PHD-type 2 |
| Hgene | NSD1 | chr5:176619020 | chr5:106717077 | ENST00000354179 | + | 4 | 24 | 1707_1751 | 85.33333333333333 | 2428.0 | Zinc finger | PHD-type 3 |
| Hgene | NSD1 | chr5:176619020 | chr5:106717077 | ENST00000354179 | + | 4 | 24 | 2118_2165 | 85.33333333333333 | 2428.0 | Zinc finger | PHD-type 4%3B atypical |
| Hgene | NSD1 | chr5:176619020 | chr5:106717077 | ENST00000361032 | + | 1 | 20 | 1543_1589 | 0.0 | 2594.0 | Zinc finger | PHD-type 1 |
| Hgene | NSD1 | chr5:176619020 | chr5:106717077 | ENST00000361032 | + | 1 | 20 | 1590_1646 | 0.0 | 2594.0 | Zinc finger | PHD-type 2 |
| Hgene | NSD1 | chr5:176619020 | chr5:106717077 | ENST00000361032 | + | 1 | 20 | 1707_1751 | 0.0 | 2594.0 | Zinc finger | PHD-type 3 |
| Hgene | NSD1 | chr5:176619020 | chr5:106717077 | ENST00000361032 | + | 1 | 20 | 2118_2165 | 0.0 | 2594.0 | Zinc finger | PHD-type 4%3B atypical |
| Hgene | NSD1 | chr5:176619020 | chr5:106717077 | ENST00000439151 | + | 3 | 23 | 1543_1589 | 354.3333333333333 | 2697.0 | Zinc finger | PHD-type 1 |
| Hgene | NSD1 | chr5:176619020 | chr5:106717077 | ENST00000439151 | + | 3 | 23 | 1590_1646 | 354.3333333333333 | 2697.0 | Zinc finger | PHD-type 2 |
| Hgene | NSD1 | chr5:176619020 | chr5:106717077 | ENST00000439151 | + | 3 | 23 | 1707_1751 | 354.3333333333333 | 2697.0 | Zinc finger | PHD-type 3 |
| Hgene | NSD1 | chr5:176619020 | chr5:106717077 | ENST00000439151 | + | 3 | 23 | 2118_2165 | 354.3333333333333 | 2697.0 | Zinc finger | PHD-type 4%3B atypical |
| Tgene | EFNA5 | chr5:176619020 | chr5:106717077 | ENST00000333274 | 3 | 5 | 29_162 | 188.33333333333334 | 229.0 | Domain | Ephrin RBD |
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Fusion Protein Structures |
| PDB and CIF files of the predicted fusion proteins * Here we show the 3D structure of the fusion proteins using Mol*. AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Model confidence is shown from the pLDDT values per residue. pLDDT corresponds to the model’s prediction of its score on the local Distance Difference Test. It is a measure of local accuracy (from AlphfaFold website). To color code individual residues, we transformed individual PDB files into CIF format. |
| Fusion protein PDB link (fusion AA seq ID in FusionPDB) | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | AA seq | Len(AA seq) |
| PDB file >>>790_NSD1_176619020_EFNA5_106717077_ranked_0.pdb | NSD1 | 176619020 | 176619020 | ENST00000509503 | EFNA5 | chr5 | 106717077 | - | MDQTCELPRRNCLLPFSNPVNLDAPEDKDSPFGNGQSNFSEPLNGCTMQLSTVSGTSQNAYGQDSPSCYIPLRRLQDLASMINVEYLNGS ADGSESFQDPEKSDSRAQTPIVCTSLSPGGPTALAMKQEPSCNNSPELQVKVTKTIKNGFLHFENFTCVDDADVDSEMDPEQPVTEDESI EEIFEETQTNATCNYETKSENGVKVAMGSEQDSTPESRHGAVKSPFLPLAPQTETQKNKQRNEVDGSNEKAALLPAPFSLGDTNITIEEQ LNSINLSFQDDPDSSTSTLGNMLELPGTSSSSTSQELPFCQPKKKSTPLKYEVGDLIWAKFKRRPWWPCRICSDPLINTHSKMKDDTVHE | 394 |
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pLDDT score distribution |
| pLDDT score distribution of the predicted wild-type structures of two partner proteins from AlphaFold2 * AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. |
NSD1_pLDDT.png  |
EFNA5_pLDDT.png  |
| pLDDT score distribution of the predicted fusion protein structures from AlphaFold2 * AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. |
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Ramachandran Plot of Fusion Protein Structure |
| Ramachandran plot of the torsional angles - phi (φ)and psi (ψ) - of the residues (amino acids) contained in this fusion protein peptide. |
| Fusion AA seq ID in FusionPDB and their Ramachandran plots |
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Fusion Protein-Protein Interaction |
| 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 from validated records (BIOGRID-3.4.160) |
| Gene | PPI interactors |
| Protein-protein interactors based on sequence similarity (STRING) |
| Gene | STRING network |
| NSD1 | |
| EFNA5 |
| - Retained interactions in fusion protein (protein functional feature from UniProt). |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost interactions due to fusion (protein functional feature from UniProt). |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs to NSD1-EFNA5 |
| Drugs used for this fusion-positive patient. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Drug | Source | PMID |
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Related Diseases to NSD1-EFNA5 |
| Diseases that have this fusion gene. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Disease | Source | PMID |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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