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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:HSD17B4-NDFIP1 (FusionGDB2 ID:37680) |
Fusion Gene Summary for HSD17B4-NDFIP1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: HSD17B4-NDFIP1 | Fusion gene ID: 37680 | Hgene | Tgene | Gene symbol | HSD17B4 | NDFIP1 | Gene ID | 3295 | 80762 |
| Gene name | hydroxysteroid 17-beta dehydrogenase 4 | Nedd4 family interacting protein 1 | |
| Synonyms | DBP|MFE-2|MPF-2|PRLTS1|SDR8C1 | N4WBP5 | |
| Cytomap | 5q23.1 | 5q31.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | peroxisomal multifunctional enzyme type 217-beta-HSD 417-beta-HSD IV17-beta-hydroxysteroid dehydrogenase 417beta-estradiol dehydrogenase type IV3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydrataseD-3-hydroxyacyl-CoA dehydratase | NEDD4 family-interacting protein 1Nedd4 WW domain-binding protein 5breast cancer-associated protein SGA-1Mputative MAPK-activating protein PM13putative NF-kappa-B-activating protein 164putative NFKB and MAPK-activating protein | |
| Modification date | 20200327 | 20200313 | |
| UniProtAcc | P51659 | Q9BT67 | |
| Ensembl transtripts involved in fusion gene | ENST00000256216, ENST00000504811, ENST00000414835, ENST00000510025, ENST00000509514, ENST00000513628, ENST00000515320, ENST00000522415, | ENST00000253814, ENST00000509436, | |
| Fusion gene scores | * DoF score | 4 X 4 X 4=64 | 4 X 4 X 3=48 |
| # samples | 5 | 4 | |
| ** MAII score | log2(5/64*10)=-0.356143810225275 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: HSD17B4 [Title/Abstract] AND NDFIP1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | HSD17B4(118792063)-NDFIP1(141531295), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | |||
| * 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 | HSD17B4 | GO:0006635 | fatty acid beta-oxidation | 10400999 |
| Hgene | HSD17B4 | GO:0008209 | androgen metabolic process | 7487879 |
| Hgene | HSD17B4 | GO:0008210 | estrogen metabolic process | 7487879 |
| Hgene | HSD17B4 | GO:0036111 | very long-chain fatty-acyl-CoA metabolic process | 9482850 |
| Hgene | HSD17B4 | GO:0036112 | medium-chain fatty-acyl-CoA metabolic process | 9089413 |
| Tgene | NDFIP1 | GO:0031398 | positive regulation of protein ubiquitination | 25631046 |
| Fusion gene breakpoints across HSD17B4 (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 NDFIP1 (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 | STAD | TCGA-HU-8243 | HSD17B4 | chr5 | 118792063 | + | NDFIP1 | chr5 | 141531295 | + |
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Fusion Gene ORF analysis for HSD17B4-NDFIP1 |
| 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 |
| 5CDS-3UTR | ENST00000256216 | ENST00000253814 | HSD17B4 | chr5 | 118792063 | + | NDFIP1 | chr5 | 141531295 | + |
| 5CDS-3UTR | ENST00000504811 | ENST00000253814 | HSD17B4 | chr5 | 118792063 | + | NDFIP1 | chr5 | 141531295 | + |
| 5CDS-intron | ENST00000256216 | ENST00000509436 | HSD17B4 | chr5 | 118792063 | + | NDFIP1 | chr5 | 141531295 | + |
| 5CDS-intron | ENST00000504811 | ENST00000509436 | HSD17B4 | chr5 | 118792063 | + | NDFIP1 | chr5 | 141531295 | + |
| 5UTR-3UTR | ENST00000414835 | ENST00000253814 | HSD17B4 | chr5 | 118792063 | + | NDFIP1 | chr5 | 141531295 | + |
| 5UTR-3UTR | ENST00000510025 | ENST00000253814 | HSD17B4 | chr5 | 118792063 | + | NDFIP1 | chr5 | 141531295 | + |
| 5UTR-intron | ENST00000414835 | ENST00000509436 | HSD17B4 | chr5 | 118792063 | + | NDFIP1 | chr5 | 141531295 | + |
| 5UTR-intron | ENST00000510025 | ENST00000509436 | HSD17B4 | chr5 | 118792063 | + | NDFIP1 | chr5 | 141531295 | + |
| intron-3UTR | ENST00000509514 | ENST00000253814 | HSD17B4 | chr5 | 118792063 | + | NDFIP1 | chr5 | 141531295 | + |
| intron-3UTR | ENST00000513628 | ENST00000253814 | HSD17B4 | chr5 | 118792063 | + | NDFIP1 | chr5 | 141531295 | + |
| intron-3UTR | ENST00000515320 | ENST00000253814 | HSD17B4 | chr5 | 118792063 | + | NDFIP1 | chr5 | 141531295 | + |
| intron-3UTR | ENST00000522415 | ENST00000253814 | HSD17B4 | chr5 | 118792063 | + | NDFIP1 | chr5 | 141531295 | + |
| intron-intron | ENST00000509514 | ENST00000509436 | HSD17B4 | chr5 | 118792063 | + | NDFIP1 | chr5 | 141531295 | + |
| intron-intron | ENST00000513628 | ENST00000509436 | HSD17B4 | chr5 | 118792063 | + | NDFIP1 | chr5 | 141531295 | + |
| intron-intron | ENST00000515320 | ENST00000509436 | HSD17B4 | chr5 | 118792063 | + | NDFIP1 | chr5 | 141531295 | + |
| intron-intron | ENST00000522415 | ENST00000509436 | HSD17B4 | chr5 | 118792063 | + | NDFIP1 | chr5 | 141531295 | + |
| 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) |
| 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 |
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Fusion Genomic Features for HSD17B4-NDFIP1 |
| 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) |
| HSD17B4 | chr5 | 118792063 | + | NDFIP1 | chr5 | 141531295 | + | 0.020411672 | 0.9795884 |
| HSD17B4 | chr5 | 118792063 | + | NDFIP1 | chr5 | 141531295 | + | 0.020411672 | 0.9795884 |
| 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 HSD17B4-NDFIP1 |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:118792063/:141531295) - 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 |
| HSD17B4 | NDFIP1 |
| FUNCTION: Bifunctional enzyme acting on the peroxisomal beta-oxidation pathway for fatty acids. Catalyzes the formation of 3-ketoacyl-CoA intermediates from straight-chain, 2-methyl-branched-chain fatty acids bile acid intermediates. With EHHADH, catalyzes the hydration of trans-2-enoyl-CoA and the dehydrogenation of 3-hydroxyacyl-CoA, but with opposite chiral specificity (PubMed:10671535). {ECO:0000269|PubMed:10671535, ECO:0000269|PubMed:15060085, ECO:0000269|PubMed:8902629, ECO:0000269|PubMed:9089413}. | FUNCTION: Activates HECT domain-containing E3 ubiquitin-protein ligases, including NEDD4 and ITCH, and consequently modulates the stability of their targets. As a result, controls many cellular processes. Prevents chronic T-helper cell-mediated inflammation by activating ITCH and thus controlling JUNB degradation (By similarity). Promotes pancreatic beta cell death through degradation of JUNB and inhibition of the unfolded protein response, leading to reduction of insulin secretion (PubMed:26319551). Restricts the production of proinflammatory cytokines in effector Th17 T-cells by promoting ITCH-mediated ubiquitination and degradation of RORC (By similarity). Together with NDFIP2, limits the cytokine signaling and expansion of effector Th2 T-cells by promoting degradation of JAK1, probably by ITCH- and NEDD4L-mediated ubiquitination (By similarity). Regulates peripheral T-cell tolerance to self and foreign antigens, forcing the exit of naive CD4+ T-cells from the cell cycle before they become effector T-cells (By similarity). Negatively regulates RLR-mediated antiviral response by promoting SMURF1-mediated ubiquitination and subsequent degradation of MAVS (PubMed:23087404). Negatively regulates KCNH2 potassium channel activity by decreasing its cell-surface expression and interfering with channel maturation through recruitment of NEDD4L to the Golgi apparatus where it mediates KCNH2 degradation (PubMed:26363003). In cortical neurons, mediates the ubiquitination of the divalent metal transporter SLC11A2/DMT1 by NEDD4L, leading to its down-regulation and protection of the cells from cobalt and iron toxicity (PubMed:19706893). Important for normal development of dendrites and dendritic spines in cortex (By similarity). Enhances the ubiquitination of BRAT1 mediated by: NEDD4, NEDD4L and ITCH and is required for the nuclear localization of ubiquitinated BRAT1 (PubMed:25631046). Enhances the ITCH-mediated ubiquitination of MAP3K7 by recruiting E2 ubiquitin-conjugating enzyme UBE2L3 to ITCH (By similarity). Modulates EGFR signaling through multiple pathways. In particular, may regulate the ratio of AKT1-to-MAPK8 signaling in response to EGF, acting on AKT1 probably through PTEN destabilization and on MAPK8 through ITCH-dependent MAP2K4 inactivation. As a result, may control cell growth rate (PubMed:20534535). Inhibits cell proliferation by promoting PTEN nuclear localization and changing its signaling specificity (PubMed:25801959). {ECO:0000250|UniProtKB:Q8R0W6, ECO:0000269|PubMed:19343052, ECO:0000269|PubMed:19706893, ECO:0000269|PubMed:20534535, ECO:0000269|PubMed:23087404, ECO:0000269|PubMed:25631046, ECO:0000269|PubMed:25801959, ECO:0000269|PubMed:26319551, ECO:0000269|PubMed:26363003}. |
| 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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Fusion Gene Sequence for HSD17B4-NDFIP1 |
| 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. |
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Fusion Gene PPI Analysis for HSD17B4-NDFIP1 |
| 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 HSD17B4-NDFIP1 |
| 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 HSD17B4-NDFIP1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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