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Fusion Gene Summary | |
Fusion Gene ORF analysis | |
Fusion Genomic Features | |
Fusion Protein Features | |
Fusion Gene Sequence | |
Fusion Gene PPI analysis | |
Related Drugs | |
Related Diseases |
Fusion gene:NSD1-EFNA5 (FusionGDB2 ID:60049) |
Fusion Gene Summary for NSD1-EFNA5 |
Fusion gene summary |
Fusion gene information | Fusion gene name: NSD1-EFNA5 | Fusion gene ID: 60049 | 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 | ENST00000354179, ENST00000439151, ENST00000347982, ENST00000361032, ENST00000511258, | ENST00000333274, ENST00000509503, ENST00000510359, | |
Fusion gene scores | * 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 | PubMed: NSD1 [Title/Abstract] AND EFNA5 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | 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 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 Hgene partner, which is a epigenetic factor 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. |
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. |
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 | NSD1 | chr5 | 176619020 | + | EFNA5 | chr5 | 106717077 | - |
ChimerDB4 | ACC | TCGA-OR-A5JS-01A | NSD1 | chr5 | 176619020 | + | EFNA5 | chr5 | 106717077 | - |
ChimerDB4 | ACC | TCGA-OR-A5JS-01A | NSD1 | chr5 | 176619020 | - | EFNA5 | chr5 | 106717077 | - |
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Fusion Gene ORF analysis for NSD1-EFNA5 |
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 |
Frame-shift | ENST00000354179 | ENST00000333274 | NSD1 | chr5 | 176619020 | + | EFNA5 | chr5 | 106717077 | - |
In-frame | ENST00000354179 | ENST00000509503 | NSD1 | chr5 | 176619020 | + | EFNA5 | chr5 | 106717077 | - |
5CDS-5UTR | ENST00000354179 | ENST00000510359 | NSD1 | chr5 | 176619020 | + | EFNA5 | chr5 | 106717077 | - |
Frame-shift | ENST00000439151 | ENST00000333274 | NSD1 | chr5 | 176619020 | + | EFNA5 | chr5 | 106717077 | - |
In-frame | ENST00000439151 | ENST00000509503 | NSD1 | chr5 | 176619020 | + | EFNA5 | chr5 | 106717077 | - |
5CDS-5UTR | ENST00000439151 | ENST00000510359 | NSD1 | chr5 | 176619020 | + | EFNA5 | chr5 | 106717077 | - |
Frame-shift | ENST00000347982 | ENST00000333274 | NSD1 | chr5 | 176619020 | + | EFNA5 | chr5 | 106717077 | - |
In-frame | ENST00000347982 | ENST00000509503 | NSD1 | chr5 | 176619020 | + | EFNA5 | chr5 | 106717077 | - |
5CDS-5UTR | ENST00000347982 | ENST00000510359 | NSD1 | chr5 | 176619020 | + | EFNA5 | chr5 | 106717077 | - |
intron-3CDS | ENST00000361032 | ENST00000333274 | NSD1 | chr5 | 176619020 | + | EFNA5 | chr5 | 106717077 | - |
intron-3CDS | ENST00000361032 | ENST00000509503 | NSD1 | chr5 | 176619020 | + | EFNA5 | chr5 | 106717077 | - |
intron-5UTR | ENST00000361032 | ENST00000510359 | NSD1 | chr5 | 176619020 | + | EFNA5 | chr5 | 106717077 | - |
intron-3CDS | ENST00000511258 | ENST00000333274 | NSD1 | chr5 | 176619020 | + | EFNA5 | chr5 | 106717077 | - |
intron-3CDS | ENST00000511258 | ENST00000509503 | NSD1 | chr5 | 176619020 | + | EFNA5 | chr5 | 106717077 | - |
intron-5UTR | ENST00000511258 | ENST00000510359 | NSD1 | chr5 | 176619020 | + | EFNA5 | chr5 | 106717077 | - |
ORFfinder result based on the fusion transcript sequence of in-frame fusion genes. |
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 Genomic Features for NSD1-EFNA5 |
FusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints. |
Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page. |
Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page. |
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Fusion Protein Features for NSD1-EFNA5 |
Go to FGviewer for the breakpoints of 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. |
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. |
- 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 |
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 Gene Sequence for NSD1-EFNA5 |
For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
>In-frame_ENST00000354179_ENST00000509503_TCGA-OR-A5JS-01A_NSD1_chr5_176619020_+_EFNA5_chr5_106717077_length(transcript)=555nt_BP=416nt GGCCGGGTAGGGGGTTCGCCTGCGGCCGCGTCTGCTCGGGGCCTGAGGCCTCGAAGACCCCAGCCCAAGCCCCCAGGTTGATGCCGGCCC AGGATGGATCAGACCTGTGAACTACCCAGAAGAAATTGTCTGCTGCCCTTTTCCAATCCAGTGAATTTAGATGCCCCTGAAGACAAGGAC AGCCCTTTCGGATGATCCAGATTCCAGTACCAGTACATTAGGAAACATGCTAGAATTACCTGGAACTTCATCATCATCTACTTCACAGGA ATTGCCATTTTGTCAACCTAAGAAAAAGTCTACGCCACTGAAGTATGAAGTTGGAGATCTCATCTGGGCAAAATTCAAGAGACGCCCATG GTGGCCCTGCAGGATTTGTTCTGATCCGTTGATTAACACACATTCAAAAATGAAAGATGACACCGTACATGAGTCAGCCGAGCCATCCCG CGGCGAGAACGCGGCACAAACACCAAGGATACCCAGCCGCCTTTTGGCAATCCTACTGTTCCTCCTGGCGATGCTTTTGACATTATAGCA >In-frame_ENST00000354179_ENST00000509503_TCGA-OR-A5JS-01A_NSD1_chr5_176619020_+_EFNA5_chr5_106717077_length(amino acids)=125AA_start in transcript=160_stop in transcript=537 MPLKTRTALSDDPDSSTSTLGNMLELPGTSSSSTSQELPFCQPKKKSTPLKYEVGDLIWAKFKRRPWWPCRICSDPLINTHSKMKDDTVH -------------------------------------------------------------- >In-frame_ENST00000439151_ENST00000509503_TCGA-OR-A5JS-01A_NSD1_chr5_176619020_+_EFNA5_chr5_106717077_length(transcript)=1247nt_BP=1108nt GCTGGCCCGGGAGGGGGCGCGGGGCACGGTTGATGCCGGCCCAGGATGGATCAGACCTGTGAACTACCCAGAAGAAATTGTCTGCTGCCC TTTTCCAATCCAGTGAATTTAGATGCCCCTGAAGACAAGGACAGCCCTTTCGGTAATGGTCAATCCAATTTTTCTGAGCCACTTAATGGG TGTACTATGCAGTTATCGACTGTCAGTGGAACATCCCAAAATGCTTATGGACAAGATTCTCCATCTTGTTACATTCCACTGCGGAGACTA CAGGATTTGGCCTCCATGATCAATGTAGAGTATTTAAATGGGTCTGCTGATGGATCAGAATCCTTTCAAGACCCTGAAAAAAGTGATTCA AGAGCTCAGACGCCAATTGTTTGCACTTCCTTGAGTCCTGGTGGTCCTACAGCACTTGCTATGAAACAGGAACCCTCTTGTAATAACTCC CCTGAACTCCAGGTAAAAGTAACAAAGACTATCAAGAATGGCTTTCTGCACTTTGAGAATTTTACTTGTGTGGACGATGCAGATGTAGAT TCTGAAATGGACCCAGAACAGCCAGTCACAGAGGATGAGAGTATAGAGGAGATCTTTGAGGAAACTCAGACCAATGCCACCTGCAATTAT GAGACTAAATCAGAGAATGGTGTAAAAGTGGCCATGGGAAGTGAACAAGACAGCACACCAGAGAGTAGACACGGTGCAGTCAAATCGCCA TTCTTGCCATTAGCTCCTCAGACTGAAACACAGAAAAATAAGCAAAGAAATGAAGTGGACGGCAGCAATGAAAAAGCAGCCCTTCTCCCA GCCCCCTTTTCACTAGGAGACACAAACATTACAATAGAAGAGCAATTAAACTCAATAAATTTATCTTTTCAGGATGATCCAGATTCCAGT ACCAGTACATTAGGAAACATGCTAGAATTACCTGGAACTTCATCATCATCTACTTCACAGGAATTGCCATTTTGTCAACCTAAGAAAAAG TCTACGCCACTGAAGTATGAAGTTGGAGATCTCATCTGGGCAAAATTCAAGAGACGCCCATGGTGGCCCTGCAGGATTTGTTCTGATCCG TTGATTAACACACATTCAAAAATGAAAGATGACACCGTACATGAGTCAGCCGAGCCATCCCGCGGCGAGAACGCGGCACAAACACCAAGG >In-frame_ENST00000439151_ENST00000509503_TCGA-OR-A5JS-01A_NSD1_chr5_176619020_+_EFNA5_chr5_106717077_length(amino acids)=394AA_start in transcript=45_stop in transcript=1229 MDQTCELPRRNCLLPFSNPVNLDAPEDKDSPFGNGQSNFSEPLNGCTMQLSTVSGTSQNAYGQDSPSCYIPLRRLQDLASMINVEYLNGS ADGSESFQDPEKSDSRAQTPIVCTSLSPGGPTALAMKQEPSCNNSPELQVKVTKTIKNGFLHFENFTCVDDADVDSEMDPEQPVTEDESI EEIFEETQTNATCNYETKSENGVKVAMGSEQDSTPESRHGAVKSPFLPLAPQTETQKNKQRNEVDGSNEKAALLPAPFSLGDTNITIEEQ LNSINLSFQDDPDSSTSTLGNMLELPGTSSSSTSQELPFCQPKKKSTPLKYEVGDLIWAKFKRRPWWPCRICSDPLINTHSKMKDDTVHE -------------------------------------------------------------- >In-frame_ENST00000347982_ENST00000509503_TCGA-OR-A5JS-01A_NSD1_chr5_176619020_+_EFNA5_chr5_106717077_length(transcript)=496nt_BP=357nt CCTCCGCCTCCCCTCAGGTTGATGCCGGCCCAGGATGGATCAGACCTGTGAACTACCCAGAAGAAATTGTCTGCTGCCCTTTTCCAATCC AGTGAATTTAGATGCCCCTGAAGACAAGGACAGCCCTTTCGGATGATCCAGATTCCAGTACCAGTACATTAGGAAACATGCTAGAATTAC CTGGAACTTCATCATCATCTACTTCACAGGAATTGCCATTTTGTCAACCTAAGAAAAAGTCTACGCCACTGAAGTATGAAGTTGGAGATC TCATCTGGGCAAAATTCAAGAGACGCCCATGGTGGCCCTGCAGGATTTGTTCTGATCCGTTGATTAACACACATTCAAAAATGAAAGATG ACACCGTACATGAGTCAGCCGAGCCATCCCGCGGCGAGAACGCGGCACAAACACCAAGGATACCCAGCCGCCTTTTGGCAATCCTACTGT >In-frame_ENST00000347982_ENST00000509503_TCGA-OR-A5JS-01A_NSD1_chr5_176619020_+_EFNA5_chr5_106717077_length(amino acids)=125AA_start in transcript=101_stop in transcript=478 MPLKTRTALSDDPDSSTSTLGNMLELPGTSSSSTSQELPFCQPKKKSTPLKYEVGDLIWAKFKRRPWWPCRICSDPLINTHSKMKDDTVH -------------------------------------------------------------- |
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Fusion Gene PPI Analysis for NSD1-EFNA5 |
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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Related Drugs for NSD1-EFNA5 |
Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for NSD1-EFNA5 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | NSD1 | C0175695 | Sotos' syndrome | 20 | CLINGEN;CTD_human;GENOMICS_ENGLAND |
Hgene | NSD1 | C4551477 | SOTOS SYNDROME 1 | 8 | GENOMICS_ENGLAND;UNIPROT |
Hgene | NSD1 | C0004903 | Beckwith-Wiedemann Syndrome | 2 | GENOMICS_ENGLAND |
Hgene | NSD1 | C0265210 | Weaver syndrome | 2 | CTD_human;GENOMICS_ENGLAND;ORPHANET |
Hgene | NSD1 | C0004352 | Autistic Disorder | 1 | CTD_human |
Hgene | NSD1 | C0010606 | Adenoid Cystic Carcinoma | 1 | CTD_human |
Hgene | NSD1 | C0020796 | Profound Mental Retardation | 1 | CTD_human |
Hgene | NSD1 | C0023467 | Leukemia, Myelocytic, Acute | 1 | CTD_human;GENOMICS_ENGLAND |
Hgene | NSD1 | C0025363 | Mental Retardation, Psychosocial | 1 | CTD_human |
Hgene | NSD1 | C0917816 | Mental deficiency | 1 | CTD_human |
Hgene | NSD1 | C2931574 | Chromosome 5, monosomy 5q35 | 1 | ORPHANET |
Hgene | NSD1 | C3714756 | Intellectual Disability | 1 | CTD_human |
Hgene | NSD1 | C4304526 | 5q35 microduplication syndrome | 1 | ORPHANET |
Tgene | EFNA5 | C0035126 | Reperfusion Injury | 1 | CTD_human |