|
Fusion gene ID: 26915 |
FusionGeneSummary for PHF1_PHF1 |
Fusion gene summary |
Fusion gene information | Fusion gene name: PHF1_PHF1 | Fusion gene ID: 26915 | Hgene | Tgene | Gene symbol | PHF1 | PHF1 | Gene ID | 5252 | 5252 |
Gene name | PHD finger protein 1 | PHD finger protein 1 | |
Synonyms | MTF2L2|PCL1|PHF2|TDRD19C|hPHF1 | MTF2L2|PCL1|PHF2|TDRD19C|hPHF1 | |
Cytomap | 6p21.32 | 6p21.32 | |
Type of gene | protein-coding | protein-coding | |
Description | PHD finger protein 1hPCl1polycomb-like 1polycomb-like protein 1testicular tissue protein Li 140tudor domain containing 19C | PHD finger protein 1hPCl1polycomb-like 1polycomb-like protein 1testicular tissue protein Li 140tudor domain containing 19C | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | O43189 | O43189 | |
Ensembl transtripts involved in fusion gene | ENST00000459809, ENST00000374512, ENST00000374516, ENST00000442136, ENST00000454914, ENST00000427869, ENST00000487460, ENST00000475137, | ENST00000459809, ENST00000374512, ENST00000374516, ENST00000442136, ENST00000454914, ENST00000427869, ENST00000487460, ENST00000475137, | |
Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 1 X 1 X 1=1 |
# samples | 1 | 1 | |
** MAII score | log2(1/1*10)=3.32192809488736 | log2(1/1*10)=3.32192809488736 | |
Context | PubMed: PHF1 [Title/Abstract] AND PHF1 [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 | PHF1 | GO:0006974 | cellular response to DNA damage stimulus | 23142980 |
Tgene | PHF1 | GO:0006974 | cellular response to DNA damage stimulus | 23142980 |
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 | BE706288 | PHF1 | chr6 | 4863991 | - | PHF1 | chr6 | 4863276 | + |
* 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 | ENST00000459809 | ENST00000459809 | PHF1 | chr6 | 4863991 | - | PHF1 | chr6 | 4863276 | + |
intron-intron | ENST00000459809 | ENST00000374512 | PHF1 | chr6 | 4863991 | - | PHF1 | chr6 | 4863276 | + |
intron-intron | ENST00000459809 | ENST00000374516 | PHF1 | chr6 | 4863991 | - | PHF1 | chr6 | 4863276 | + |
intron-intron | ENST00000459809 | ENST00000442136 | PHF1 | chr6 | 4863991 | - | PHF1 | chr6 | 4863276 | + |
intron-intron | ENST00000459809 | ENST00000454914 | PHF1 | chr6 | 4863991 | - | PHF1 | chr6 | 4863276 | + |
intron-intron | ENST00000459809 | ENST00000427869 | PHF1 | chr6 | 4863991 | - | PHF1 | chr6 | 4863276 | + |
intron-3UTR | ENST00000459809 | ENST00000487460 | PHF1 | chr6 | 4863991 | - | PHF1 | chr6 | 4863276 | + |
intron-5UTR | ENST00000459809 | ENST00000475137 | PHF1 | chr6 | 4863991 | - | PHF1 | chr6 | 4863276 | + |
intron-intron | ENST00000374512 | ENST00000459809 | PHF1 | chr6 | 4863991 | - | PHF1 | chr6 | 4863276 | + |
intron-intron | ENST00000374512 | ENST00000374512 | PHF1 | chr6 | 4863991 | - | PHF1 | chr6 | 4863276 | + |
intron-intron | ENST00000374512 | ENST00000374516 | PHF1 | chr6 | 4863991 | - | PHF1 | chr6 | 4863276 | + |
intron-intron | ENST00000374512 | ENST00000442136 | PHF1 | chr6 | 4863991 | - | PHF1 | chr6 | 4863276 | + |
intron-intron | ENST00000374512 | ENST00000454914 | PHF1 | chr6 | 4863991 | - | PHF1 | chr6 | 4863276 | + |
intron-intron | ENST00000374512 | ENST00000427869 | PHF1 | chr6 | 4863991 | - | PHF1 | chr6 | 4863276 | + |
intron-3UTR | ENST00000374512 | ENST00000487460 | PHF1 | chr6 | 4863991 | - | PHF1 | chr6 | 4863276 | + |
intron-5UTR | ENST00000374512 | ENST00000475137 | PHF1 | chr6 | 4863991 | - | PHF1 | chr6 | 4863276 | + |
intron-intron | ENST00000374516 | ENST00000459809 | PHF1 | chr6 | 4863991 | - | PHF1 | chr6 | 4863276 | + |
intron-intron | ENST00000374516 | ENST00000374512 | PHF1 | chr6 | 4863991 | - | PHF1 | chr6 | 4863276 | + |
intron-intron | ENST00000374516 | ENST00000374516 | PHF1 | chr6 | 4863991 | - | PHF1 | chr6 | 4863276 | + |
intron-intron | ENST00000374516 | ENST00000442136 | PHF1 | chr6 | 4863991 | - | PHF1 | chr6 | 4863276 | + |
intron-intron | ENST00000374516 | ENST00000454914 | PHF1 | chr6 | 4863991 | - | PHF1 | chr6 | 4863276 | + |
intron-intron | ENST00000374516 | ENST00000427869 | PHF1 | chr6 | 4863991 | - | PHF1 | chr6 | 4863276 | + |
intron-3UTR | ENST00000374516 | ENST00000487460 | PHF1 | chr6 | 4863991 | - | PHF1 | chr6 | 4863276 | + |
intron-5UTR | ENST00000374516 | ENST00000475137 | PHF1 | chr6 | 4863991 | - | PHF1 | chr6 | 4863276 | + |
intron-intron | ENST00000442136 | ENST00000459809 | PHF1 | chr6 | 4863991 | - | PHF1 | chr6 | 4863276 | + |
intron-intron | ENST00000442136 | ENST00000374512 | PHF1 | chr6 | 4863991 | - | PHF1 | chr6 | 4863276 | + |
intron-intron | ENST00000442136 | ENST00000374516 | PHF1 | chr6 | 4863991 | - | PHF1 | chr6 | 4863276 | + |
intron-intron | ENST00000442136 | ENST00000442136 | PHF1 | chr6 | 4863991 | - | PHF1 | chr6 | 4863276 | + |
intron-intron | ENST00000442136 | ENST00000454914 | PHF1 | chr6 | 4863991 | - | PHF1 | chr6 | 4863276 | + |
intron-intron | ENST00000442136 | ENST00000427869 | PHF1 | chr6 | 4863991 | - | PHF1 | chr6 | 4863276 | + |
intron-3UTR | ENST00000442136 | ENST00000487460 | PHF1 | chr6 | 4863991 | - | PHF1 | chr6 | 4863276 | + |
intron-5UTR | ENST00000442136 | ENST00000475137 | PHF1 | chr6 | 4863991 | - | PHF1 | chr6 | 4863276 | + |
3UTR-intron | ENST00000454914 | ENST00000459809 | PHF1 | chr6 | 4863991 | - | PHF1 | chr6 | 4863276 | + |
3UTR-intron | ENST00000454914 | ENST00000374512 | PHF1 | chr6 | 4863991 | - | PHF1 | chr6 | 4863276 | + |
3UTR-intron | ENST00000454914 | ENST00000374516 | PHF1 | chr6 | 4863991 | - | PHF1 | chr6 | 4863276 | + |
3UTR-intron | ENST00000454914 | ENST00000442136 | PHF1 | chr6 | 4863991 | - | PHF1 | chr6 | 4863276 | + |
3UTR-intron | ENST00000454914 | ENST00000454914 | PHF1 | chr6 | 4863991 | - | PHF1 | chr6 | 4863276 | + |
3UTR-intron | ENST00000454914 | ENST00000427869 | PHF1 | chr6 | 4863991 | - | PHF1 | chr6 | 4863276 | + |
3UTR-3UTR | ENST00000454914 | ENST00000487460 | PHF1 | chr6 | 4863991 | - | PHF1 | chr6 | 4863276 | + |
3UTR-5UTR | ENST00000454914 | ENST00000475137 | PHF1 | chr6 | 4863991 | - | PHF1 | chr6 | 4863276 | + |
5CDS-intron | ENST00000427869 | ENST00000459809 | PHF1 | chr6 | 4863991 | - | PHF1 | chr6 | 4863276 | + |
5CDS-intron | ENST00000427869 | ENST00000374512 | PHF1 | chr6 | 4863991 | - | PHF1 | chr6 | 4863276 | + |
5CDS-intron | ENST00000427869 | ENST00000374516 | PHF1 | chr6 | 4863991 | - | PHF1 | chr6 | 4863276 | + |
5CDS-intron | ENST00000427869 | ENST00000442136 | PHF1 | chr6 | 4863991 | - | PHF1 | chr6 | 4863276 | + |
5CDS-intron | ENST00000427869 | ENST00000454914 | PHF1 | chr6 | 4863991 | - | PHF1 | chr6 | 4863276 | + |
5CDS-intron | ENST00000427869 | ENST00000427869 | PHF1 | chr6 | 4863991 | - | PHF1 | chr6 | 4863276 | + |
5CDS-3UTR | ENST00000427869 | ENST00000487460 | PHF1 | chr6 | 4863991 | - | PHF1 | chr6 | 4863276 | + |
5CDS-5UTR | ENST00000427869 | ENST00000475137 | PHF1 | chr6 | 4863991 | - | PHF1 | chr6 | 4863276 | + |
3UTR-intron | ENST00000487460 | ENST00000459809 | PHF1 | chr6 | 4863991 | - | PHF1 | chr6 | 4863276 | + |
3UTR-intron | ENST00000487460 | ENST00000374512 | PHF1 | chr6 | 4863991 | - | PHF1 | chr6 | 4863276 | + |
3UTR-intron | ENST00000487460 | ENST00000374516 | PHF1 | chr6 | 4863991 | - | PHF1 | chr6 | 4863276 | + |
3UTR-intron | ENST00000487460 | ENST00000442136 | PHF1 | chr6 | 4863991 | - | PHF1 | chr6 | 4863276 | + |
3UTR-intron | ENST00000487460 | ENST00000454914 | PHF1 | chr6 | 4863991 | - | PHF1 | chr6 | 4863276 | + |
3UTR-intron | ENST00000487460 | ENST00000427869 | PHF1 | chr6 | 4863991 | - | PHF1 | chr6 | 4863276 | + |
3UTR-3UTR | ENST00000487460 | ENST00000487460 | PHF1 | chr6 | 4863991 | - | PHF1 | chr6 | 4863276 | + |
3UTR-5UTR | ENST00000487460 | ENST00000475137 | PHF1 | chr6 | 4863991 | - | PHF1 | chr6 | 4863276 | + |
3UTR-intron | ENST00000475137 | ENST00000459809 | PHF1 | chr6 | 4863991 | - | PHF1 | chr6 | 4863276 | + |
3UTR-intron | ENST00000475137 | ENST00000374512 | PHF1 | chr6 | 4863991 | - | PHF1 | chr6 | 4863276 | + |
3UTR-intron | ENST00000475137 | ENST00000374516 | PHF1 | chr6 | 4863991 | - | PHF1 | chr6 | 4863276 | + |
3UTR-intron | ENST00000475137 | ENST00000442136 | PHF1 | chr6 | 4863991 | - | PHF1 | chr6 | 4863276 | + |
3UTR-intron | ENST00000475137 | ENST00000454914 | PHF1 | chr6 | 4863991 | - | PHF1 | chr6 | 4863276 | + |
3UTR-intron | ENST00000475137 | ENST00000427869 | PHF1 | chr6 | 4863991 | - | PHF1 | chr6 | 4863276 | + |
3UTR-3UTR | ENST00000475137 | ENST00000487460 | PHF1 | chr6 | 4863991 | - | PHF1 | chr6 | 4863276 | + |
3UTR-5UTR | ENST00000475137 | ENST00000475137 | PHF1 | chr6 | 4863991 | - | PHF1 | chr6 | 4863276 | + |
Top |
FusionProtFeatures for PHF1_PHF1 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
PHF1 | PHF1 |
Polycomb group (PcG) that specifically binds histone H3trimethylated at 'Lys-36' (H3K36me3) and recruits the PRC2complex. Involved in DNA damage response and is recruited atdouble-strand breaks (DSBs). Acts by binding to H3K36me3, a markfor transcriptional activation, and recruiting the PRC2 complex:it is however unclear whether recruitment of the PRC2 complex toH3K36me3 leads to enhance or inhibit H3K27me3 methylation mediatedby the PRC2 complex. According to some reports, PRC2 recruitmentby PHF1 promotes H3K27me3 and subsequent gene silencing byinducing spreading of PRC2 and H3K27me3 into H3K36me3 loci(PubMed:18285464 and PubMed:23273982). According to anotherreport, PHF1 recruits the PRC2 complex at double-strand breaks(DSBs) and inhibits the activity of PRC2 (PubMed:23142980).Regulates p53/TP53 stability and prolonges its turnover: may actby specifically binding to a methylated from of p53/TP53.{ECO:0000269|PubMed:18086877, ECO:0000269|PubMed:18285464,ECO:0000269|PubMed:18385154, ECO:0000269|PubMed:23142980,ECO:0000269|PubMed:23150668, ECO:0000269|PubMed:23273982}. | Polycomb group (PcG) that specifically binds histone H3trimethylated at 'Lys-36' (H3K36me3) and recruits the PRC2complex. Involved in DNA damage response and is recruited atdouble-strand breaks (DSBs). Acts by binding to H3K36me3, a markfor transcriptional activation, and recruiting the PRC2 complex:it is however unclear whether recruitment of the PRC2 complex toH3K36me3 leads to enhance or inhibit H3K27me3 methylation mediatedby the PRC2 complex. According to some reports, PRC2 recruitmentby PHF1 promotes H3K27me3 and subsequent gene silencing byinducing spreading of PRC2 and H3K27me3 into H3K36me3 loci(PubMed:18285464 and PubMed:23273982). According to anotherreport, PHF1 recruits the PRC2 complex at double-strand breaks(DSBs) and inhibits the activity of PRC2 (PubMed:23142980).Regulates p53/TP53 stability and prolonges its turnover: may actby specifically binding to a methylated from of p53/TP53.{ECO:0000269|PubMed:18086877, ECO:0000269|PubMed:18285464,ECO:0000269|PubMed:18385154, ECO:0000269|PubMed:23142980,ECO:0000269|PubMed:23150668, ECO:0000269|PubMed:23273982}. |
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 |
Top |
FusionGeneSequence for PHF1_PHF1 |
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). |
Top |
FusionGenePPI for PHF1_PHF1 |
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 |
Top |
RelatedDrugs for PHF1_PHF1 |
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 |
Top |
RelatedDiseases for PHF1_PHF1 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |