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Fusion gene ID: 15929 |
FusionGeneSummary for HDAC1_PGA3 |
Fusion gene summary |
Fusion gene information | Fusion gene name: HDAC1_PGA3 | Fusion gene ID: 15929 | Hgene | Tgene | Gene symbol | HDAC1 | PGA3 | Gene ID | 3065 | 643834 |
Gene name | histone deacetylase 1 | pepsinogen 3, group I (pepsinogen A) | |
Synonyms | GON-10|HD1|RPD3|RPD3L1 | - | |
Cytomap | 1p35.2-p35.1 | 11q12.2 | |
Type of gene | protein-coding | protein-coding | |
Description | histone deacetylase 1reduced potassium dependency, yeast homolog-like 1 | pepsin A-3pepsinogen A3pepsinogen-3 | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | Q13547 | P0DJD8 | |
Ensembl transtripts involved in fusion gene | ENST00000373548, ENST00000373541, ENST00000490081, | ENST00000325558, ENST00000543125, ENST00000538258, | |
Fusion gene scores | * DoF score | 9 X 6 X 7=378 | 8 X 7 X 3=168 |
# samples | 9 | 7 | |
** MAII score | log2(9/378*10)=-2.0703893278914 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(7/168*10)=-1.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: HDAC1 [Title/Abstract] AND PGA3 [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 | HDAC1 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 18854353 |
Hgene | HDAC1 | GO:0006476 | protein deacetylation | 17172643|23629966 |
Hgene | HDAC1 | GO:0045893 | positive regulation of transcription, DNA-templated | 16762839 |
Hgene | HDAC1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 16762839 |
Hgene | HDAC1 | GO:0060766 | negative regulation of androgen receptor signaling pathway | 15919722 |
Hgene | HDAC1 | GO:0070932 | histone H3 deacetylation | 12590135 |
Hgene | HDAC1 | GO:0070933 | histone H4 deacetylation | 12590135 |
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 | BP342282 | HDAC1 | chr1 | 32792661 | + | PGA3 | chr11 | 60980279 | + |
* 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-3UTR | ENST00000373548 | ENST00000325558 | HDAC1 | chr1 | 32792661 | + | PGA3 | chr11 | 60980279 | + |
5CDS-3UTR | ENST00000373548 | ENST00000543125 | HDAC1 | chr1 | 32792661 | + | PGA3 | chr11 | 60980279 | + |
5CDS-3UTR | ENST00000373548 | ENST00000538258 | HDAC1 | chr1 | 32792661 | + | PGA3 | chr11 | 60980279 | + |
5UTR-3UTR | ENST00000373541 | ENST00000325558 | HDAC1 | chr1 | 32792661 | + | PGA3 | chr11 | 60980279 | + |
5UTR-3UTR | ENST00000373541 | ENST00000543125 | HDAC1 | chr1 | 32792661 | + | PGA3 | chr11 | 60980279 | + |
5UTR-3UTR | ENST00000373541 | ENST00000538258 | HDAC1 | chr1 | 32792661 | + | PGA3 | chr11 | 60980279 | + |
intron-3UTR | ENST00000490081 | ENST00000325558 | HDAC1 | chr1 | 32792661 | + | PGA3 | chr11 | 60980279 | + |
intron-3UTR | ENST00000490081 | ENST00000543125 | HDAC1 | chr1 | 32792661 | + | PGA3 | chr11 | 60980279 | + |
intron-3UTR | ENST00000490081 | ENST00000538258 | HDAC1 | chr1 | 32792661 | + | PGA3 | chr11 | 60980279 | + |
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FusionProtFeatures for HDAC1_PGA3 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
HDAC1 | PGA3 |
Responsible for the deacetylation of lysine residues onthe N-terminal part of the core histones (H2A, H2B, H3 and H4).Histone deacetylation gives a tag for epigenetic repression andplays an important role in transcriptional regulation, cell cycleprogression and developmental events. Histone deacetylases act viathe formation of large multiprotein complexes. Deacetylates SPproteins, SP1 and SP3, and regulates their function. Component ofthe BRG1-RB1-HDAC1 complex, which negatively regulates the CREST-mediated transcription in resting neurons. Upon calciumstimulation, HDAC1 is released from the complex and CREBBP isrecruited, which facilitates transcriptional activation.Deacetylates TSHZ3 and regulates its transcriptional repressoractivity. Deacetylates 'Lys-310' in RELA and thereby inhibits thetranscriptional activity of NF-kappa-B. Deacetylates NR1D2 andabrogates the effect of KAT5-mediated relieving of NR1D2transcription repression activity. Component of aRCOR/GFI/KDM1A/HDAC complex that suppresses, via histonedeacetylase (HDAC) recruitment, a number of genes implicated inmultilineage blood cell development. Involved in CIART-mediatedtranscriptional repression of the circadian transcriptionalactivator: CLOCK-ARNTL/BMAL1 heterodimer. Required for thetranscriptional repression of circadian target genes, such asPER1, mediated by the large PER complex or CRY1 through histonedeacetylation. {ECO:0000269|PubMed:12837748,ECO:0000269|PubMed:16478997, ECO:0000269|PubMed:17000776,ECO:0000269|PubMed:17704056, ECO:0000269|PubMed:17996965,ECO:0000269|PubMed:19081374, ECO:0000269|PubMed:19343227}. | Shows particularly broad specificity; although bondsinvolving phenylalanine and leucine are preferred, many others arealso cleaved to some extent. |
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 HDAC1_PGA3 |
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 HDAC1_PGA3 |
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 HDAC1_PGA3 |
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 | HDAC1 | Q13547 | DB01169 | Arsenic trioxide | Histone deacetylase 1 | small molecule | approved|investigational |
Hgene | HDAC1 | Q13547 | DB01593 | Zinc | Histone deacetylase 1 | small molecule | approved|investigational |
Hgene | HDAC1 | Q13547 | DB02546 | Vorinostat | Histone deacetylase 1 | small molecule | approved|investigational |
Hgene | HDAC1 | Q13547 | DB05015 | Belinostat | Histone deacetylase 1 | small molecule | approved|investigational |
Hgene | HDAC1 | Q13547 | DB06176 | Romidepsin | Histone deacetylase 1 | small molecule | approved|investigational |
Hgene | HDAC1 | Q13547 | DB06603 | Panobinostat | Histone deacetylase 1 | small molecule | approved|investigational |
Hgene | HDAC1 | Q13547 | DB08868 | Fingolimod | Histone deacetylase 1 | small molecule | approved|investigational |
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RelatedDiseases for HDAC1_PGA3 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | HDAC1 | C0036341 | Schizophrenia | 2 | PSYGENET |
Hgene | HDAC1 | C0007137 | Squamous cell carcinoma | 1 | CTD_human |
Hgene | HDAC1 | C0014175 | Endometriosis | 1 | CTD_human |
Hgene | HDAC1 | C0018799 | Heart Diseases | 1 | CTD_human |
Hgene | HDAC1 | C0340543 | Familial primary pulmonary hypertension | 1 | CTD_human |
Hgene | HDAC1 | C0525045 | Mood Disorders | 1 | PSYGENET |