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Fusion gene ID: 8869 |
FusionGeneSummary for CTNS_KAT6A |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CTNS_KAT6A | Fusion gene ID: 8869 | Hgene | Tgene | Gene symbol | CTNS | KAT6A | Gene ID | 1497 | 7994 |
| Gene name | cystinosin, lysosomal cystine transporter | lysine acetyltransferase 6A | |
| Synonyms | CTNS-LSB|PQLC4 | MOZ|MRD32|MYST-3|MYST3|RUNXBP2|ZC2HC6A|ZNF220 | |
| Cytomap | 17p13.2 | 8p11.21 | |
| Type of gene | protein-coding | protein-coding | |
| Description | cystinosincystinosis nephropathic | histone acetyltransferase KAT6AK(lysine) acetyltransferase 6AMOZ, YBF2/SAS3, SAS2 and TIP60 protein 3MYST histone acetyltransferase (monocytic leukemia) 3histone acetyltransferase MYST3monocytic leukemia zinc finger proteinrunt-related transcription | |
| Modification date | 20180527 | 20180523 | |
| UniProtAcc | O60931 | Q92794 | |
| Ensembl transtripts involved in fusion gene | ENST00000046640, ENST00000381870, ENST00000441220, ENST00000414524, ENST00000488623, ENST00000399306, | ENST00000406337, ENST00000265713, ENST00000396930, ENST00000485568, | |
| Fusion gene scores | * DoF score | 3 X 3 X 2=18 | 6 X 11 X 4=264 |
| # samples | 3 | 11 | |
| ** MAII score | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(11/264*10)=-1.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: CTNS [Title/Abstract] AND KAT6A [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 |
| Tgene | KAT6A | GO:0006473 | protein acetylation | 23431171 |
| Tgene | KAT6A | GO:0016573 | histone acetylation | 11742995|17925393 |
| Tgene | KAT6A | GO:0030099 | myeloid cell differentiation | 11742995 |
| Tgene | KAT6A | GO:0043966 | histone H3 acetylation | 16387653 |
| Tgene | KAT6A | GO:0045892 | negative regulation of transcription, DNA-templated | 11742995 |
| Tgene | KAT6A | GO:0045893 | positive regulation of transcription, DNA-templated | 11742995|11965546|18794358 |
| 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 | BF854861 | CTNS | chr17 | 3560106 | + | KAT6A | chr8 | 41809053 | + |
| * 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 |
| intron-intron | ENST00000046640 | ENST00000406337 | CTNS | chr17 | 3560106 | + | KAT6A | chr8 | 41809053 | + |
| intron-intron | ENST00000046640 | ENST00000265713 | CTNS | chr17 | 3560106 | + | KAT6A | chr8 | 41809053 | + |
| intron-intron | ENST00000046640 | ENST00000396930 | CTNS | chr17 | 3560106 | + | KAT6A | chr8 | 41809053 | + |
| intron-intron | ENST00000046640 | ENST00000485568 | CTNS | chr17 | 3560106 | + | KAT6A | chr8 | 41809053 | + |
| intron-intron | ENST00000381870 | ENST00000406337 | CTNS | chr17 | 3560106 | + | KAT6A | chr8 | 41809053 | + |
| intron-intron | ENST00000381870 | ENST00000265713 | CTNS | chr17 | 3560106 | + | KAT6A | chr8 | 41809053 | + |
| intron-intron | ENST00000381870 | ENST00000396930 | CTNS | chr17 | 3560106 | + | KAT6A | chr8 | 41809053 | + |
| intron-intron | ENST00000381870 | ENST00000485568 | CTNS | chr17 | 3560106 | + | KAT6A | chr8 | 41809053 | + |
| intron-intron | ENST00000441220 | ENST00000406337 | CTNS | chr17 | 3560106 | + | KAT6A | chr8 | 41809053 | + |
| intron-intron | ENST00000441220 | ENST00000265713 | CTNS | chr17 | 3560106 | + | KAT6A | chr8 | 41809053 | + |
| intron-intron | ENST00000441220 | ENST00000396930 | CTNS | chr17 | 3560106 | + | KAT6A | chr8 | 41809053 | + |
| intron-intron | ENST00000441220 | ENST00000485568 | CTNS | chr17 | 3560106 | + | KAT6A | chr8 | 41809053 | + |
| intron-intron | ENST00000414524 | ENST00000406337 | CTNS | chr17 | 3560106 | + | KAT6A | chr8 | 41809053 | + |
| intron-intron | ENST00000414524 | ENST00000265713 | CTNS | chr17 | 3560106 | + | KAT6A | chr8 | 41809053 | + |
| intron-intron | ENST00000414524 | ENST00000396930 | CTNS | chr17 | 3560106 | + | KAT6A | chr8 | 41809053 | + |
| intron-intron | ENST00000414524 | ENST00000485568 | CTNS | chr17 | 3560106 | + | KAT6A | chr8 | 41809053 | + |
| intron-intron | ENST00000488623 | ENST00000406337 | CTNS | chr17 | 3560106 | + | KAT6A | chr8 | 41809053 | + |
| intron-intron | ENST00000488623 | ENST00000265713 | CTNS | chr17 | 3560106 | + | KAT6A | chr8 | 41809053 | + |
| intron-intron | ENST00000488623 | ENST00000396930 | CTNS | chr17 | 3560106 | + | KAT6A | chr8 | 41809053 | + |
| intron-intron | ENST00000488623 | ENST00000485568 | CTNS | chr17 | 3560106 | + | KAT6A | chr8 | 41809053 | + |
| intron-intron | ENST00000399306 | ENST00000406337 | CTNS | chr17 | 3560106 | + | KAT6A | chr8 | 41809053 | + |
| intron-intron | ENST00000399306 | ENST00000265713 | CTNS | chr17 | 3560106 | + | KAT6A | chr8 | 41809053 | + |
| intron-intron | ENST00000399306 | ENST00000396930 | CTNS | chr17 | 3560106 | + | KAT6A | chr8 | 41809053 | + |
| intron-intron | ENST00000399306 | ENST00000485568 | CTNS | chr17 | 3560106 | + | KAT6A | chr8 | 41809053 | + |
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FusionProtFeatures for CTNS_KAT6A |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CTNS | KAT6A |
| Cystine/H(+) symporter thought to transport cystine outof lysosomes. Plays an important role in melanin synthesis,possibly by preventing melanosome acidification and subsequentdegradation of tyrosinase TYR. {ECO:0000269|PubMed:22649030}. | Histone acetyltransferase that acetylates lysineresidues in histone H3 and histone H4 (in vitro). Component of theMOZ/MORF complex which has a histone H3 acetyltransferaseactivity. May act as a transcriptional coactivator for RUNX1 andRUNX2. Acetylates p53/TP53 at 'Lys-120' and 'Lys-382' and controlsits transcriptional activity via association with PML.{ECO:0000269|PubMed:11742995, ECO:0000269|PubMed:11965546,ECO:0000269|PubMed:12771199, ECO:0000269|PubMed:16387653,ECO:0000269|PubMed:17925393, ECO:0000269|PubMed:23431171}. |
| 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 CTNS_KAT6A |
| 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 CTNS_KAT6A |
| 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 CTNS_KAT6A |
| 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 CTNS_KAT6A |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | CTNS | C2931187 | Nephropathic cystinosis | 10 | CTD_human;ORPHANET;UNIPROT |
| Hgene | CTNS | C0268626 | Juvenile nephropathic cystinosis (disorder) | 3 | CTD_human;ORPHANET;UNIPROT |
| Hgene | CTNS | C2931013 | Cystinosis, benign, nonnephropathic | 1 | CTD_human;ORPHANET;UNIPROT |
| Tgene | KAT6A | C0010606 | Adenoid Cystic Carcinoma | 1 | CTD_human |
| Tgene | KAT6A | C0025149 | Medulloblastoma | 1 | CTD_human |
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