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Fusion gene ID: 19851 |
FusionGeneSummary for LLPH_KAT2B |
Fusion gene summary |
Fusion gene information | Fusion gene name: LLPH_KAT2B | Fusion gene ID: 19851 | Hgene | Tgene | Gene symbol | LLPH | KAT2B | Gene ID | 84298 | 8850 |
Gene name | LLP homolog, long-term synaptic facilitation factor | lysine acetyltransferase 2B | |
Synonyms | C12orf31|hLLP | CAF|P/CAF|PCAF | |
Cytomap | 12q14.3 | 3p24.3 | |
Type of gene | protein-coding | protein-coding | |
Description | protein LLP homologLLP homolog, long-term synaptic facilitation (Aplysia)human LAPS18-like protein | histone acetyltransferase KAT2BCREBBP-associated factorK(lysine) acetyltransferase 2Bhistone acetylase PCAFhistone acetyltransferase PCAFp300/CBP-associated factor | |
Modification date | 20180523 | 20180522 | |
UniProtAcc | Q9BRT6 | Q92831 | |
Ensembl transtripts involved in fusion gene | ENST00000266604, ENST00000446587, | ENST00000263754, ENST00000426228, | |
Fusion gene scores | * DoF score | 5 X 5 X 2=50 | 2 X 2 X 1=4 |
# samples | 5 | 2 | |
** MAII score | log2(5/50*10)=0 | log2(2/4*10)=2.32192809488736 | |
Context | PubMed: LLPH [Title/Abstract] AND KAT2B [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 | KAT2B | GO:0006338 | chromatin remodeling | 17707232 |
Tgene | KAT2B | GO:0006473 | protein acetylation | 15273251 |
Tgene | KAT2B | GO:0008285 | negative regulation of cell proliferation | 8684459 |
Tgene | KAT2B | GO:0010835 | regulation of protein ADP-ribosylation | 19470756 |
Tgene | KAT2B | GO:0018076 | N-terminal peptidyl-lysine acetylation | 12435739 |
Tgene | KAT2B | GO:0018393 | internal peptidyl-lysine acetylation | 23932781|27796307|29174768 |
Tgene | KAT2B | GO:0018394 | peptidyl-lysine acetylation | 19303849|19470756 |
Tgene | KAT2B | GO:0032869 | cellular response to insulin stimulus | 19303849 |
Tgene | KAT2B | GO:0043966 | histone H3 acetylation | 18838386 |
Tgene | KAT2B | GO:0045944 | positive regulation of transcription by RNA polymerase II | 19470756 |
Tgene | KAT2B | GO:0046600 | negative regulation of centriole replication | 27796307 |
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 | AI083552 | LLPH | chr12 | 66531902 | + | KAT2B | chr3 | 20181781 | - |
* 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 | ENST00000266604 | ENST00000263754 | LLPH | chr12 | 66531902 | + | KAT2B | chr3 | 20181781 | - |
intron-intron | ENST00000266604 | ENST00000426228 | LLPH | chr12 | 66531902 | + | KAT2B | chr3 | 20181781 | - |
intron-3CDS | ENST00000446587 | ENST00000263754 | LLPH | chr12 | 66531902 | + | KAT2B | chr3 | 20181781 | - |
intron-intron | ENST00000446587 | ENST00000426228 | LLPH | chr12 | 66531902 | + | KAT2B | chr3 | 20181781 | - |
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FusionProtFeatures for LLPH_KAT2B |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
LLPH | KAT2B |
In hippocampal neurons, regulates dendritic and spinegrowth and synaptic transmission. {ECO:0000250|UniProtKB:Q9D945}. | Functions as a histone acetyltransferase (HAT) topromote transcriptional activation. Has significant histoneacetyltransferase activity with core histones (H3 and H4), andalso with nucleosome core particles. Also acetylates non-histoneproteins, such as ACLY, PLK4 and TBX5. Inhibits cell-cycleprogression and counteracts the mitogenic activity of theadenoviral oncoprotein E1A. Acts as a circadian transcriptionalcoactivator which enhances the activity of the circadiantranscriptional activators: NPAS2-ARNTL/BMAL1 and CLOCK-ARNTL/BMAL1 heterodimers. Involved in heart and limb developmentby mediating acetylation of TBX5, acetylation regulatingnucleocytoplasmic shuttling of TBX5 (PubMed:29174768). Acts as anegative regulator of centrosome amplification by mediatingacetylation of PLK4 (PubMed:27796307).{ECO:0000269|PubMed:10675335, ECO:0000269|PubMed:14645221,ECO:0000269|PubMed:23932781, ECO:0000269|PubMed:27796307,ECO:0000269|PubMed:29174768, ECO:0000269|PubMed:8684459,ECO:0000269|PubMed:9707565}. (Microbial infection) In case of HIV-1 infection, it isrecruited by the viral protein Tat. Regulates Tat'stransactivating activity and may help inducing chromatinremodeling of proviral genes. {ECO:0000269|PubMed:12486002}. |
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 LLPH_KAT2B |
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 LLPH_KAT2B |
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 LLPH_KAT2B |
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 LLPH_KAT2B |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | KAT2B | C0525045 | Mood Disorders | 1 | PSYGENET |