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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 19851

FusionGeneSummary for LLPH_KAT2B

check button Fusion gene summary
Fusion gene informationFusion gene name: LLPH_KAT2B
Fusion gene ID: 19851
HgeneTgene
Gene symbol

LLPH

KAT2B

Gene ID

84298

8850

Gene nameLLP homolog, long-term synaptic facilitation factorlysine acetyltransferase 2B
SynonymsC12orf31|hLLPCAF|P/CAF|PCAF
Cytomap

12q14.3

3p24.3

Type of geneprotein-codingprotein-coding
Descriptionprotein LLP homologLLP homolog, long-term synaptic facilitation (Aplysia)human LAPS18-like proteinhistone acetyltransferase KAT2BCREBBP-associated factorK(lysine) acetyltransferase 2Bhistone acetylase PCAFhistone acetyltransferase PCAFp300/CBP-associated factor
Modification date2018052320180522
UniProtAcc

Q9BRT6

Q92831

Ensembl transtripts involved in fusion geneENST00000266604, ENST00000446587, 
ENST00000263754, ENST00000426228, 
Fusion gene scores* DoF score5 X 5 X 2=502 X 2 X 1=4
# samples 52
** MAII scorelog2(5/50*10)=0log2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
TgeneKAT2B

GO:0006338

chromatin remodeling

17707232

TgeneKAT2B

GO:0006473

protein acetylation

15273251

TgeneKAT2B

GO:0008285

negative regulation of cell proliferation

8684459

TgeneKAT2B

GO:0010835

regulation of protein ADP-ribosylation

19470756

TgeneKAT2B

GO:0018076

N-terminal peptidyl-lysine acetylation

12435739

TgeneKAT2B

GO:0018393

internal peptidyl-lysine acetylation

23932781|27796307|29174768

TgeneKAT2B

GO:0018394

peptidyl-lysine acetylation

19303849|19470756

TgeneKAT2B

GO:0032869

cellular response to insulin stimulus

19303849

TgeneKAT2B

GO:0043966

histone H3 acetylation

18838386

TgeneKAT2B

GO:0045944

positive regulation of transcription by RNA polymerase II

19470756

TgeneKAT2B

GO:0046600

negative regulation of centriole replication

27796307


check button 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1AI083552LLPHchr12

66531902

+KAT2Bchr3

20181781

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
intron-3CDSENST00000266604ENST00000263754LLPHchr12

66531902

+KAT2Bchr3

20181781

-
intron-intronENST00000266604ENST00000426228LLPHchr12

66531902

+KAT2Bchr3

20181781

-
intron-3CDSENST00000446587ENST00000263754LLPHchr12

66531902

+KAT2Bchr3

20181781

-
intron-intronENST00000446587ENST00000426228LLPHchr12

66531902

+KAT2Bchr3

20181781

-

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FusionProtFeatures for LLPH_KAT2B


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
LLPH

Q9BRT6

KAT2B

Q92831

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}.

check buttonRetention 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

download page

.

* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for LLPH_KAT2B


check button 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


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for LLPH_KAT2B


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for LLPH_KAT2B


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneKAT2BC0525045Mood Disorders1PSYGENET