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Fusion gene ID: 18198 |
FusionGeneSummary for KAT8_SON |
Fusion gene summary |
Fusion gene information | Fusion gene name: KAT8_SON | Fusion gene ID: 18198 | Hgene | Tgene | Gene symbol | KAT8 | SON | Gene ID | 84148 | 6651 |
Gene name | lysine acetyltransferase 8 | SON DNA binding protein | |
Synonyms | MOF|MYST1|ZC2HC8|hMOF | BASS1|C21orf50|DBP-5|NREBP|SON3|TOKIMS | |
Cytomap | 16p11.2 | 21q22.11 | |
Type of gene | protein-coding | protein-coding | |
Description | histone acetyltransferase KAT8K(lysine) acetyltransferase 8MOZ, YBF2/SAS3, SAS2 and TIP60 protein 1MYST histone acetyltransferase 1MYST-1histone acetyltransferase MYST1ortholog of Drosophila males absent on the first (MOF)probable histone acetyltra | protein SONBax antagonist selected in Saccharomyces 1NRE-binding proteinnegative regulatory element-binding protein | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | Q9H7Z6 | P18583 | |
Ensembl transtripts involved in fusion gene | ENST00000543774, ENST00000448516, ENST00000219797, | ENST00000356577, ENST00000290239, ENST00000381692, ENST00000300278, ENST00000381679, ENST00000470533, | |
Fusion gene scores | * DoF score | 2 X 2 X 1=4 | 7 X 6 X 3=126 |
# samples | 2 | 7 | |
** MAII score | log2(2/4*10)=2.32192809488736 | log2(7/126*10)=-0.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: KAT8 [Title/Abstract] AND SON [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 | KAT8 | GO:0010506 | regulation of autophagy | 23863932 |
Hgene | KAT8 | GO:0016573 | histone acetylation | 11742995 |
Hgene | KAT8 | GO:0030099 | myeloid cell differentiation | 11742995 |
Hgene | KAT8 | GO:0043981 | histone H4-K5 acetylation | 20018852 |
Hgene | KAT8 | GO:0043982 | histone H4-K8 acetylation | 20018852 |
Hgene | KAT8 | GO:0043984 | histone H4-K16 acetylation | 20018852 |
Hgene | KAT8 | GO:0045892 | negative regulation of transcription, DNA-templated | 11742995 |
Hgene | KAT8 | GO:0045893 | positive regulation of transcription, DNA-templated | 11742995|11965546 |
Tgene | SON | GO:0006397 | mRNA processing | 21504830 |
Tgene | SON | GO:0043066 | negative regulation of apoptotic process | 10509013 |
Tgene | SON | GO:0048024 | regulation of mRNA splicing, via spliceosome | 21504830 |
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 | AW962600 | KAT8 | chr16 | 31142072 | - | SON | chr21 | 34923652 | - |
* 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-3CDS | ENST00000543774 | ENST00000356577 | KAT8 | chr16 | 31142072 | - | SON | chr21 | 34923652 | - |
intron-3CDS | ENST00000543774 | ENST00000290239 | KAT8 | chr16 | 31142072 | - | SON | chr21 | 34923652 | - |
intron-intron | ENST00000543774 | ENST00000381692 | KAT8 | chr16 | 31142072 | - | SON | chr21 | 34923652 | - |
intron-intron | ENST00000543774 | ENST00000300278 | KAT8 | chr16 | 31142072 | - | SON | chr21 | 34923652 | - |
intron-intron | ENST00000543774 | ENST00000381679 | KAT8 | chr16 | 31142072 | - | SON | chr21 | 34923652 | - |
intron-intron | ENST00000543774 | ENST00000470533 | KAT8 | chr16 | 31142072 | - | SON | chr21 | 34923652 | - |
intron-3CDS | ENST00000448516 | ENST00000356577 | KAT8 | chr16 | 31142072 | - | SON | chr21 | 34923652 | - |
intron-3CDS | ENST00000448516 | ENST00000290239 | KAT8 | chr16 | 31142072 | - | SON | chr21 | 34923652 | - |
intron-intron | ENST00000448516 | ENST00000381692 | KAT8 | chr16 | 31142072 | - | SON | chr21 | 34923652 | - |
intron-intron | ENST00000448516 | ENST00000300278 | KAT8 | chr16 | 31142072 | - | SON | chr21 | 34923652 | - |
intron-intron | ENST00000448516 | ENST00000381679 | KAT8 | chr16 | 31142072 | - | SON | chr21 | 34923652 | - |
intron-intron | ENST00000448516 | ENST00000470533 | KAT8 | chr16 | 31142072 | - | SON | chr21 | 34923652 | - |
intron-3CDS | ENST00000219797 | ENST00000356577 | KAT8 | chr16 | 31142072 | - | SON | chr21 | 34923652 | - |
intron-3CDS | ENST00000219797 | ENST00000290239 | KAT8 | chr16 | 31142072 | - | SON | chr21 | 34923652 | - |
intron-intron | ENST00000219797 | ENST00000381692 | KAT8 | chr16 | 31142072 | - | SON | chr21 | 34923652 | - |
intron-intron | ENST00000219797 | ENST00000300278 | KAT8 | chr16 | 31142072 | - | SON | chr21 | 34923652 | - |
intron-intron | ENST00000219797 | ENST00000381679 | KAT8 | chr16 | 31142072 | - | SON | chr21 | 34923652 | - |
intron-intron | ENST00000219797 | ENST00000470533 | KAT8 | chr16 | 31142072 | - | SON | chr21 | 34923652 | - |
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FusionProtFeatures for KAT8_SON |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
KAT8 | SON |
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 KAT8_SON |
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 KAT8_SON |
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 KAT8_SON |
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 KAT8_SON |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | KAT8 | C0036341 | Schizophrenia | 1 | PSYGENET |
Tgene | SON | C0010606 | Adenoid Cystic Carcinoma | 1 | CTD_human |
Tgene | SON | C0036095 | Salivary Gland Neoplasms | 1 | CTD_human |