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Fusion gene ID: 16396 |
FusionGeneSummary for HLCS_CD53 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: HLCS_CD53 | Fusion gene ID: 16396 | Hgene | Tgene | Gene symbol | HLCS | CD53 | Gene ID | 3141 | 963 |
| Gene name | holocarboxylase synthetase | CD53 molecule | |
| Synonyms | HCS | MOX44|TSPAN25 | |
| Cytomap | 21q22.13 | 1p13.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | biotin--protein ligasebiotin apo-protein ligasebiotin--[acetyl-CoA-carboxylase] ligasebiotin--[methylcrotonoyl-CoA-carboxylase] ligasebiotin--[methylmalonyl-CoA-carboxytransferase] ligaseholocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase | leukocyte surface antigen CD53CD53 antigenCD53 glycoproteinCD53 tetraspan antigenantigen MOX44 identified by monoclonal antibody MRC-OX44cell surface antigencell surface glycoprotein CD53tetraspanin-25transmembrane glycoproteintspan-25 | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | P50747 | P19397 | |
| Ensembl transtripts involved in fusion gene | ENST00000336648, ENST00000399120, ENST00000482273, | ENST00000429072, ENST00000271324, ENST00000497404, | |
| Fusion gene scores | * DoF score | 7 X 3 X 4=84 | 1 X 1 X 1=1 |
| # samples | 7 | 1 | |
| ** MAII score | log2(7/84*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: HLCS [Title/Abstract] AND CD53 [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 |
| Hgene | HLCS | GO:0009305 | protein biotinylation | 7842009 |
| Hgene | HLCS | GO:0016570 | histone modification | 14613969 |
| Hgene | HLCS | GO:0070781 | response to biotin | 17904341 |
| Hgene | HLCS | GO:0071110 | histone biotinylation | 14613969 |
| 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 |
| TCGA | RV | BRCA | TCGA-E2-A158-01A | HLCS | chr21 | 38308749 | - | CD53 | chr1 | 111434014 | + |
| * 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 |
| 5CDS-5UTR | ENST00000336648 | ENST00000429072 | HLCS | chr21 | 38308749 | - | CD53 | chr1 | 111434014 | + |
| 5CDS-5UTR | ENST00000336648 | ENST00000271324 | HLCS | chr21 | 38308749 | - | CD53 | chr1 | 111434014 | + |
| 5CDS-intron | ENST00000336648 | ENST00000497404 | HLCS | chr21 | 38308749 | - | CD53 | chr1 | 111434014 | + |
| 5CDS-5UTR | ENST00000399120 | ENST00000429072 | HLCS | chr21 | 38308749 | - | CD53 | chr1 | 111434014 | + |
| 5CDS-5UTR | ENST00000399120 | ENST00000271324 | HLCS | chr21 | 38308749 | - | CD53 | chr1 | 111434014 | + |
| 5CDS-intron | ENST00000399120 | ENST00000497404 | HLCS | chr21 | 38308749 | - | CD53 | chr1 | 111434014 | + |
| intron-5UTR | ENST00000482273 | ENST00000429072 | HLCS | chr21 | 38308749 | - | CD53 | chr1 | 111434014 | + |
| intron-5UTR | ENST00000482273 | ENST00000271324 | HLCS | chr21 | 38308749 | - | CD53 | chr1 | 111434014 | + |
| intron-intron | ENST00000482273 | ENST00000497404 | HLCS | chr21 | 38308749 | - | CD53 | chr1 | 111434014 | + |
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FusionProtFeatures for HLCS_CD53 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| HLCS | CD53 |
| Post-translational modification of specific protein byattachment of biotin. Acts on various carboxylases such as acetyl-CoA-carboxylase, pyruvate carboxylase, propionyl CoA carboxylase,and 3-methylcrotonyl CoA carboxylase. | Required for efficient formation of myofibers inregenerating muscle at the level of cell fusion. May be involvedin growth regulation in hematopoietic cells (By similarity).{ECO:0000250}. |
| 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 HLCS_CD53 |
| 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. |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| * Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for HLCS_CD53 |
| 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 |
| HLCS | POT1, ACACB, HLCS, DDX52, SNX27, C1orf111, TMC7, CATSPERD, TBC1D20 | CD53 | CD9, CD2, PRKCA, GGT1, CD81, CD82 |
| - 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 HLCS_CD53 |
| 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 |
| Hgene | HLCS | P50747 | DB00121 | Biotin | Biotin--protein ligase | small molecule | approved|investigational|nutraceutical |
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RelatedDiseases for HLCS_CD53 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | HLCS | C0268581 | Holocarboxylase Synthetase Deficiency | 10 | CTD_human;ORPHANET;UNIPROT |
| Tgene | CD53 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
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