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Fusion gene ID: 15813 |
FusionGeneSummary for HADH_NCL |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: HADH_NCL | Fusion gene ID: 15813 | Hgene | Tgene | Gene symbol | HADH | NCL | Gene ID | 3033 | 80331 |
| Gene name | hydroxyacyl-CoA dehydrogenase | DnaJ heat shock protein family (Hsp40) member C5 | |
| Synonyms | HAD|HADH1|HADHSC|HCDH|HHF4|MSCHAD|SCHAD | CLN4|CLN4B|CSP|DNAJC5A|NCL|mir-941-2|mir-941-3|mir-941-4|mir-941-5 | |
| Cytomap | 4q25 | 20q13.33 | |
| Type of gene | protein-coding | protein-coding | |
| Description | hydroxyacyl-coenzyme A dehydrogenase, mitochondrialL-3-hydroxyacyl-Coenzyme A dehydrogenase, short chainmedium and short-chain L-3-hydroxyacyl-coenzyme A dehydrogenaseshort-chain 3-hydroxyacyl-CoA dehydrogenasetestis secretory sperm-binding protein Li | dnaJ homolog subfamily C member 5DnaJ (Hsp40) homolog, subfamily C, member 5ceroid-lipofuscinosis neuronal protein 4cysteine string protein alpha | |
| Modification date | 20180519 | 20180522 | |
| UniProtAcc | Q16836 | P19338 | |
| Ensembl transtripts involved in fusion gene | ENST00000603302, ENST00000403312, ENST00000309522, ENST00000505878, ENST00000454409, ENST00000510728, | ENST00000322723, | |
| Fusion gene scores | * DoF score | 6 X 5 X 3=90 | 16 X 18 X 1=288 |
| # samples | 7 | 20 | |
| ** MAII score | log2(7/90*10)=-0.362570079384708 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(20/288*10)=-0.526068811667588 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: HADH [Title/Abstract] AND NCL [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | |||
| * 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 |
| Fusion gene information from three resources (ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018)) * 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. |
| Data type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChiTaRS3.1 | BQ314823 | HADH | chr4 | 108955491 | + | NCL | chr2 | 232322411 | - | ||
| ChiTaRS3.1 | BF348759 | HADH | chr4 | 108955491 | + | NCL | chr2 | 232322411 | - |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| 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 | ENST00000603302 | ENST00000322723 | HADH | chr4 | 108955491 | + | NCL | chr2 | 232322411 | - |
| In-frame | ENST00000403312 | ENST00000322723 | HADH | chr4 | 108955491 | + | NCL | chr2 | 232322411 | - |
| In-frame | ENST00000309522 | ENST00000322723 | HADH | chr4 | 108955491 | + | NCL | chr2 | 232322411 | - |
| Frame-shift | ENST00000505878 | ENST00000322723 | HADH | chr4 | 108955491 | + | NCL | chr2 | 232322411 | - |
| Frame-shift | ENST00000454409 | ENST00000322723 | HADH | chr4 | 108955491 | + | NCL | chr2 | 232322411 | - |
| 3UTR-3CDS | ENST00000510728 | ENST00000322723 | HADH | chr4 | 108955491 | + | NCL | chr2 | 232322411 | - |
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FusionProtFeatures for HADH_NCL |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| HADH | NCL |
| Plays an essential role in the mitochondrial beta-oxidation of short chain fatty acids. Exerts it highest activitytoward 3-hydroxybutyryl-CoA. | Nucleolin is the major nucleolar protein of growingeukaryotic cells. It is found associated with intranucleolarchromatin and pre-ribosomal particles. It induces chromatindecondensation by binding to histone H1. It is thought to play arole in pre-rRNA transcription and ribosome assembly. May play arole in the process of transcriptional elongation. Binds RNAoligonucleotides with 5'-UUAGGG-3' repeats more tightly than thetelomeric single-stranded DNA 5'-TTAGGG-3' repeats.{ECO:0000269|PubMed:10393184}. |
| 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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FusionGeneSequence for HADH_NCL |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (nt: nucleotides, aa: amino acids) |
| * Fusion amino acid sequences. |
| >In-frame_HADH_ENST00000403312_chr4_108955491_+_NCL_ENST00000322723_chr2_232322411_-_0aa >In-frame_HADH_ENST00000309522_chr4_108955491_+_NCL_ENST00000322723_chr2_232322411_-_0aa >In-frame_HADH_ENST00000403312_chr4_108955491_+_NCL_ENST00000322723_chr2_232322411_-_0aa >In-frame_HADH_ENST00000309522_chr4_108955491_+_NCL_ENST00000322723_chr2_232322411_-_0aa |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_HADH_ENST00000403312_chr4_108955491_+_NCL_ENST00000322723_chr2_232322411_-_0nt >In-frame_HADH_ENST00000309522_chr4_108955491_+_NCL_ENST00000322723_chr2_232322411_-_0nt >In-frame_HADH_ENST00000403312_chr4_108955491_+_NCL_ENST00000322723_chr2_232322411_-_0nt >In-frame_HADH_ENST00000309522_chr4_108955491_+_NCL_ENST00000322723_chr2_232322411_-_0nt |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_HADH_ENST00000403312_chr4_108955491_+_NCL_ENST00000322723_chr2_232322411_-_0nt >In-frame_HADH_ENST00000309522_chr4_108955491_+_NCL_ENST00000322723_chr2_232322411_-_0nt >In-frame_HADH_ENST00000403312_chr4_108955491_+_NCL_ENST00000322723_chr2_232322411_-_0nt >In-frame_HADH_ENST00000309522_chr4_108955491_+_NCL_ENST00000322723_chr2_232322411_-_0nt |
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FusionGenePPI for HADH_NCL |
| 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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RelatedDrugs for HADH_NCL |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for HADH_NCL |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | HADH | C0028754 | Obesity | 1 | CTD_human |
| Hgene | HADH | C0032927 | Precancerous Conditions | 1 | CTD_human |
| Hgene | HADH | C1864948 | Hyperinsulinemic Hypoglycemia, Familial, 4 | 1 | CTD_human;ORPHANET;UNIPROT |
| Tgene | NCL | C0151744 | Myocardial Ischemia | 1 | CTD_human |
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