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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:HSD17B10-AP4S1 (FusionGDB2 ID:37647) |
Fusion Gene Summary for HSD17B10-AP4S1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: HSD17B10-AP4S1 | Fusion gene ID: 37647 | Hgene | Tgene | Gene symbol | HSD17B10 | AP4S1 | Gene ID | 3028 | 11154 |
| Gene name | hydroxysteroid 17-beta dehydrogenase 10 | adaptor related protein complex 4 subunit sigma 1 | |
| Synonyms | 17b-HSD10|ABAD|CAMR|DUPXp11.22|ERAB|HADH2|HCD2|HSD10MD|MHBD|MRPP2|MRX17|MRX31|MRXS10|SCHAD|SDR5C1 | AP47B|CLA20|CLAPS4|CPSQ6|SPG52 | |
| Cytomap | Xp11.22 | 14q12 | |
| Type of gene | protein-coding | protein-coding | |
| Description | 3-hydroxyacyl-CoA dehydrogenase type-23-hydroxy-2-methylbutyryl-CoA dehydrogenaseAB-binding alcohol dehydrogenaseamyloid-beta peptide binding alcohol dehydrogenaseendoplasmic reticulum-associated amyloid beta-peptide-binding proteinmitochondrial RNas | AP-4 complex subunit sigma-1AP-4 adapter complex subunit sigma-1AP-4 adaptor complex subunit sigma-1adaptor related protein complex 4 sigma 1 subunitclathrin-associated/assembly/adaptor protein, sigma 4sigma-4-adaptin | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | Q99714 | Q9Y587 | |
| Ensembl transtripts involved in fusion gene | ENST00000168216, ENST00000375298, ENST00000375304, ENST00000495986, | ENST00000216366, ENST00000313566, ENST00000334725, ENST00000542754, ENST00000554345, ENST00000554609, | |
| Fusion gene scores | * DoF score | 2 X 2 X 1=4 | 8 X 6 X 4=192 |
| # samples | 2 | 8 | |
| ** MAII score | log2(2/4*10)=2.32192809488736 | log2(8/192*10)=-1.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: HSD17B10 [Title/Abstract] AND AP4S1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | HSD17B10(53458209)-AP4S1(31525061), # 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 | HSD17B10 | GO:0051289 | protein homotetramerization | 25925575 |
| Hgene | HSD17B10 | GO:0070901 | mitochondrial tRNA methylation | 25925575|28888424 |
| Hgene | HSD17B10 | GO:0097745 | mitochondrial tRNA 5'-end processing | 24549042|25925575|28888424|29040705 |
| Hgene | HSD17B10 | GO:1990180 | mitochondrial tRNA 3'-end processing | 29040705 |
| Fusion gene breakpoints across HSD17B10 (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 AP4S1 (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 |
| ChiTaRS5.0 | N/A | BM013932 | HSD17B10 | chrX | 53458209 | - | AP4S1 | chr14 | 31525061 | - |
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Fusion Gene ORF analysis for HSD17B10-AP4S1 |
| 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-intron | ENST00000168216 | ENST00000216366 | HSD17B10 | chrX | 53458209 | - | AP4S1 | chr14 | 31525061 | - |
| 5CDS-intron | ENST00000168216 | ENST00000313566 | HSD17B10 | chrX | 53458209 | - | AP4S1 | chr14 | 31525061 | - |
| 5CDS-intron | ENST00000168216 | ENST00000334725 | HSD17B10 | chrX | 53458209 | - | AP4S1 | chr14 | 31525061 | - |
| 5CDS-intron | ENST00000168216 | ENST00000542754 | HSD17B10 | chrX | 53458209 | - | AP4S1 | chr14 | 31525061 | - |
| 5CDS-intron | ENST00000168216 | ENST00000554345 | HSD17B10 | chrX | 53458209 | - | AP4S1 | chr14 | 31525061 | - |
| 5CDS-intron | ENST00000168216 | ENST00000554609 | HSD17B10 | chrX | 53458209 | - | AP4S1 | chr14 | 31525061 | - |
| 5CDS-intron | ENST00000375298 | ENST00000216366 | HSD17B10 | chrX | 53458209 | - | AP4S1 | chr14 | 31525061 | - |
| 5CDS-intron | ENST00000375298 | ENST00000313566 | HSD17B10 | chrX | 53458209 | - | AP4S1 | chr14 | 31525061 | - |
| 5CDS-intron | ENST00000375298 | ENST00000334725 | HSD17B10 | chrX | 53458209 | - | AP4S1 | chr14 | 31525061 | - |
| 5CDS-intron | ENST00000375298 | ENST00000542754 | HSD17B10 | chrX | 53458209 | - | AP4S1 | chr14 | 31525061 | - |
| 5CDS-intron | ENST00000375298 | ENST00000554345 | HSD17B10 | chrX | 53458209 | - | AP4S1 | chr14 | 31525061 | - |
| 5CDS-intron | ENST00000375298 | ENST00000554609 | HSD17B10 | chrX | 53458209 | - | AP4S1 | chr14 | 31525061 | - |
| 5CDS-intron | ENST00000375304 | ENST00000216366 | HSD17B10 | chrX | 53458209 | - | AP4S1 | chr14 | 31525061 | - |
| 5CDS-intron | ENST00000375304 | ENST00000313566 | HSD17B10 | chrX | 53458209 | - | AP4S1 | chr14 | 31525061 | - |
| 5CDS-intron | ENST00000375304 | ENST00000334725 | HSD17B10 | chrX | 53458209 | - | AP4S1 | chr14 | 31525061 | - |
| 5CDS-intron | ENST00000375304 | ENST00000542754 | HSD17B10 | chrX | 53458209 | - | AP4S1 | chr14 | 31525061 | - |
| 5CDS-intron | ENST00000375304 | ENST00000554345 | HSD17B10 | chrX | 53458209 | - | AP4S1 | chr14 | 31525061 | - |
| 5CDS-intron | ENST00000375304 | ENST00000554609 | HSD17B10 | chrX | 53458209 | - | AP4S1 | chr14 | 31525061 | - |
| intron-intron | ENST00000495986 | ENST00000216366 | HSD17B10 | chrX | 53458209 | - | AP4S1 | chr14 | 31525061 | - |
| intron-intron | ENST00000495986 | ENST00000313566 | HSD17B10 | chrX | 53458209 | - | AP4S1 | chr14 | 31525061 | - |
| intron-intron | ENST00000495986 | ENST00000334725 | HSD17B10 | chrX | 53458209 | - | AP4S1 | chr14 | 31525061 | - |
| intron-intron | ENST00000495986 | ENST00000542754 | HSD17B10 | chrX | 53458209 | - | AP4S1 | chr14 | 31525061 | - |
| intron-intron | ENST00000495986 | ENST00000554345 | HSD17B10 | chrX | 53458209 | - | AP4S1 | chr14 | 31525061 | - |
| intron-intron | ENST00000495986 | ENST00000554609 | HSD17B10 | chrX | 53458209 | - | AP4S1 | chr14 | 31525061 | - |
| 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 HSD17B10-AP4S1 |
| 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 HSD17B10-AP4S1 |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:53458209/:31525061) - 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 |
| HSD17B10 | AP4S1 |
| FUNCTION: Mitochondrial dehydrogenase involved in pathways of fatty acid, branched-chain amino acid and steroid metabolism (PubMed:9553139, PubMed:10600649, PubMed:12917011, PubMed:20077426, PubMed:18996107, PubMed:19706438, PubMed:25925575, PubMed:26950678, PubMed:28888424). Acts as (S)-3-hydroxyacyl-CoA dehydrogenase in mitochondrial fatty acid beta-oxidation, a major degradation pathway of fatty acids. Catalyzes the third step in the beta-oxidation cycle, namely the reversible conversion of (S)-3-hydroxyacyl-CoA to 3-ketoacyl-CoA. Preferentially accepts straight medium- and short-chain acyl-CoA substrates with highest efficiency for (3S)-hydroxybutanoyl-CoA (PubMed:9553139, PubMed:10600649, PubMed:12917011, PubMed:25925575, PubMed:26950678). Acts as 3-hydroxy-2-methylbutyryl-CoA dehydrogenase in branched-chain amino acid catabolic pathway. Catalyzes the oxidation of 3-hydroxy-2-methylbutanoyl-CoA into 2-methyl-3-oxobutanoyl-CoA, a step in isoleucine degradation pathway (PubMed:20077426, PubMed:18996107, PubMed:19706438). Has hydroxysteroid dehydrogenase activity toward steroid hormones and bile acids. Catalyzes the oxidation of 3alpha-, 17beta-, 20beta- and 21-hydroxysteroids and 7alpha- and 7beta-hydroxy bile acids (PubMed:10600649, PubMed:12917011). Oxidizes allopregnanolone/brexanolone at the 3alpha-hydroxyl group, which is known to be critical for the activation of gamma-aminobutyric acid receptors (GABAARs) chloride channel (PubMed:19706438, PubMed:28888424). Has phospholipase C-like activity toward cardiolipin and its oxidized species. Likely oxidizes the 2'-hydroxyl in the head group of cardiolipin to form a ketone intermediate that undergoes nucleophilic attack by water and fragments into diacylglycerol, dihydroxyacetone and orthophosphate. Has higher affinity for cardiolipin with oxidized fatty acids and may degrade these species during the oxidative stress response to protect cells from apoptosis (PubMed:26338420). By interacting with intracellular amyloid-beta, it may contribute to the neuronal dysfunction associated with Alzheimer disease (AD) (PubMed:9338779). Essential for structural and functional integrity of mitochondria (PubMed:20077426). {ECO:0000269|PubMed:10600649, ECO:0000269|PubMed:12917011, ECO:0000269|PubMed:18996107, ECO:0000269|PubMed:19706438, ECO:0000269|PubMed:20077426, ECO:0000269|PubMed:25925575, ECO:0000269|PubMed:26338420, ECO:0000269|PubMed:26950678, ECO:0000269|PubMed:28888424, ECO:0000269|PubMed:9553139}.; FUNCTION: In addition to mitochondrial dehydrogenase activity, moonlights as a component of mitochondrial ribonuclease P, a complex that cleaves tRNA molecules in their 5'-ends (PubMed:18984158, PubMed:24549042, PubMed:25925575, PubMed:26950678, PubMed:28888424). Together with TRMT10C/MRPP1, forms a subcomplex of the mitochondrial ribonuclease P, named MRPP1-MRPP2 subcomplex, which displays functions that are independent of the ribonuclease P activity (PubMed:23042678, PubMed:29040705). The MRPP1-MRPP2 subcomplex catalyzes the formation of N(1)-methylguanine and N(1)-methyladenine at position 9 (m1G9 and m1A9, respectively) in tRNAs; HSD17B10/MRPP2 acting as a non-catalytic subunit (PubMed:23042678, PubMed:25925575, PubMed:28888424). The MRPP1-MRPP2 subcomplex also acts as a tRNA maturation platform: following 5'-end cleavage by the mitochondrial ribonuclease P complex, the MRPP1-MRPP2 subcomplex enhances the efficiency of 3'-processing catalyzed by ELAC2, retains the tRNA product after ELAC2 processing and presents the nascent tRNA to the mitochondrial CCA tRNA nucleotidyltransferase TRNT1 enzyme (PubMed:29040705). Associates with mitochondrial DNA complexes at the nucleoids to initiate RNA processing and ribosome assembly. {ECO:0000269|PubMed:18984158, ECO:0000269|PubMed:23042678, ECO:0000269|PubMed:24549042, ECO:0000269|PubMed:24703694, ECO:0000269|PubMed:25925575, ECO:0000269|PubMed:26950678, ECO:0000269|PubMed:28888424, ECO:0000269|PubMed:29040705}. | FUNCTION: Component of the adaptor protein complex 4 (AP-4). Adaptor protein complexes are vesicle coat components involved both in vesicle formation and cargo selection. They control the vesicular transport of proteins in different trafficking pathways (PubMed:10066790, PubMed:10436028). AP-4 forms a non clathrin-associated coat on vesicles departing the trans-Golgi network (TGN) and may be involved in the targeting of proteins from the trans-Golgi network (TGN) to the endosomal-lysosomal system. It is also involved in protein sorting to the basolateral membrane in epithelial cells and the proper asymmetric localization of somatodendritic proteins in neurons. AP-4 is involved in the recognition and binding of tyrosine-based sorting signals found in the cytoplasmic part of cargos, but may also recognize other types of sorting signal (Probable). {ECO:0000269|PubMed:10066790, ECO:0000269|PubMed:10436028, ECO:0000305|PubMed:10066790, ECO:0000305|PubMed:10436028}. |
| 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 HSD17B10-AP4S1 |
| 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 HSD17B10-AP4S1 |
| 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 HSD17B10-AP4S1 |
| 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 HSD17B10-AP4S1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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