FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 26915

FusionGeneSummary for PHF1_PHF1

check button Fusion gene summary
Fusion gene informationFusion gene name: PHF1_PHF1
Fusion gene ID: 26915
HgeneTgene
Gene symbol

PHF1

PHF1

Gene ID

5252

5252

Gene namePHD finger protein 1PHD finger protein 1
SynonymsMTF2L2|PCL1|PHF2|TDRD19C|hPHF1MTF2L2|PCL1|PHF2|TDRD19C|hPHF1
Cytomap

6p21.32

6p21.32

Type of geneprotein-codingprotein-coding
DescriptionPHD finger protein 1hPCl1polycomb-like 1polycomb-like protein 1testicular tissue protein Li 140tudor domain containing 19CPHD finger protein 1hPCl1polycomb-like 1polycomb-like protein 1testicular tissue protein Li 140tudor domain containing 19C
Modification date2018052320180523
UniProtAcc

O43189

O43189

Ensembl transtripts involved in fusion geneENST00000459809, ENST00000374512, 
ENST00000374516, ENST00000442136, 
ENST00000454914, ENST00000427869, 
ENST00000487460, ENST00000475137, 
ENST00000459809, ENST00000374512, 
ENST00000374516, ENST00000442136, 
ENST00000454914, ENST00000427869, 
ENST00000487460, ENST00000475137, 
Fusion gene scores* DoF score1 X 1 X 1=11 X 1 X 1=1
# samples 11
** MAII scorelog2(1/1*10)=3.32192809488736log2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgenePHF1

GO:0006974

cellular response to DNA damage stimulus

23142980

TgenePHF1

GO:0006974

cellular response to DNA damage stimulus

23142980


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
ChiTaRS3.1BE706288PHF1chr6

4863991

-PHF1chr6

4863276

+
* 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-intronENST00000459809ENST00000459809PHF1chr6

4863991

-PHF1chr6

4863276

+
intron-intronENST00000459809ENST00000374512PHF1chr6

4863991

-PHF1chr6

4863276

+
intron-intronENST00000459809ENST00000374516PHF1chr6

4863991

-PHF1chr6

4863276

+
intron-intronENST00000459809ENST00000442136PHF1chr6

4863991

-PHF1chr6

4863276

+
intron-intronENST00000459809ENST00000454914PHF1chr6

4863991

-PHF1chr6

4863276

+
intron-intronENST00000459809ENST00000427869PHF1chr6

4863991

-PHF1chr6

4863276

+
intron-3UTRENST00000459809ENST00000487460PHF1chr6

4863991

-PHF1chr6

4863276

+
intron-5UTRENST00000459809ENST00000475137PHF1chr6

4863991

-PHF1chr6

4863276

+
intron-intronENST00000374512ENST00000459809PHF1chr6

4863991

-PHF1chr6

4863276

+
intron-intronENST00000374512ENST00000374512PHF1chr6

4863991

-PHF1chr6

4863276

+
intron-intronENST00000374512ENST00000374516PHF1chr6

4863991

-PHF1chr6

4863276

+
intron-intronENST00000374512ENST00000442136PHF1chr6

4863991

-PHF1chr6

4863276

+
intron-intronENST00000374512ENST00000454914PHF1chr6

4863991

-PHF1chr6

4863276

+
intron-intronENST00000374512ENST00000427869PHF1chr6

4863991

-PHF1chr6

4863276

+
intron-3UTRENST00000374512ENST00000487460PHF1chr6

4863991

-PHF1chr6

4863276

+
intron-5UTRENST00000374512ENST00000475137PHF1chr6

4863991

-PHF1chr6

4863276

+
intron-intronENST00000374516ENST00000459809PHF1chr6

4863991

-PHF1chr6

4863276

+
intron-intronENST00000374516ENST00000374512PHF1chr6

4863991

-PHF1chr6

4863276

+
intron-intronENST00000374516ENST00000374516PHF1chr6

4863991

-PHF1chr6

4863276

+
intron-intronENST00000374516ENST00000442136PHF1chr6

4863991

-PHF1chr6

4863276

+
intron-intronENST00000374516ENST00000454914PHF1chr6

4863991

-PHF1chr6

4863276

+
intron-intronENST00000374516ENST00000427869PHF1chr6

4863991

-PHF1chr6

4863276

+
intron-3UTRENST00000374516ENST00000487460PHF1chr6

4863991

-PHF1chr6

4863276

+
intron-5UTRENST00000374516ENST00000475137PHF1chr6

4863991

-PHF1chr6

4863276

+
intron-intronENST00000442136ENST00000459809PHF1chr6

4863991

-PHF1chr6

4863276

+
intron-intronENST00000442136ENST00000374512PHF1chr6

4863991

-PHF1chr6

4863276

+
intron-intronENST00000442136ENST00000374516PHF1chr6

4863991

-PHF1chr6

4863276

+
intron-intronENST00000442136ENST00000442136PHF1chr6

4863991

-PHF1chr6

4863276

+
intron-intronENST00000442136ENST00000454914PHF1chr6

4863991

-PHF1chr6

4863276

+
intron-intronENST00000442136ENST00000427869PHF1chr6

4863991

-PHF1chr6

4863276

+
intron-3UTRENST00000442136ENST00000487460PHF1chr6

4863991

-PHF1chr6

4863276

+
intron-5UTRENST00000442136ENST00000475137PHF1chr6

4863991

-PHF1chr6

4863276

+
3UTR-intronENST00000454914ENST00000459809PHF1chr6

4863991

-PHF1chr6

4863276

+
3UTR-intronENST00000454914ENST00000374512PHF1chr6

4863991

-PHF1chr6

4863276

+
3UTR-intronENST00000454914ENST00000374516PHF1chr6

4863991

-PHF1chr6

4863276

+
3UTR-intronENST00000454914ENST00000442136PHF1chr6

4863991

-PHF1chr6

4863276

+
3UTR-intronENST00000454914ENST00000454914PHF1chr6

4863991

-PHF1chr6

4863276

+
3UTR-intronENST00000454914ENST00000427869PHF1chr6

4863991

-PHF1chr6

4863276

+
3UTR-3UTRENST00000454914ENST00000487460PHF1chr6

4863991

-PHF1chr6

4863276

+
3UTR-5UTRENST00000454914ENST00000475137PHF1chr6

4863991

-PHF1chr6

4863276

+
5CDS-intronENST00000427869ENST00000459809PHF1chr6

4863991

-PHF1chr6

4863276

+
5CDS-intronENST00000427869ENST00000374512PHF1chr6

4863991

-PHF1chr6

4863276

+
5CDS-intronENST00000427869ENST00000374516PHF1chr6

4863991

-PHF1chr6

4863276

+
5CDS-intronENST00000427869ENST00000442136PHF1chr6

4863991

-PHF1chr6

4863276

+
5CDS-intronENST00000427869ENST00000454914PHF1chr6

4863991

-PHF1chr6

4863276

+
5CDS-intronENST00000427869ENST00000427869PHF1chr6

4863991

-PHF1chr6

4863276

+
5CDS-3UTRENST00000427869ENST00000487460PHF1chr6

4863991

-PHF1chr6

4863276

+
5CDS-5UTRENST00000427869ENST00000475137PHF1chr6

4863991

-PHF1chr6

4863276

+
3UTR-intronENST00000487460ENST00000459809PHF1chr6

4863991

-PHF1chr6

4863276

+
3UTR-intronENST00000487460ENST00000374512PHF1chr6

4863991

-PHF1chr6

4863276

+
3UTR-intronENST00000487460ENST00000374516PHF1chr6

4863991

-PHF1chr6

4863276

+
3UTR-intronENST00000487460ENST00000442136PHF1chr6

4863991

-PHF1chr6

4863276

+
3UTR-intronENST00000487460ENST00000454914PHF1chr6

4863991

-PHF1chr6

4863276

+
3UTR-intronENST00000487460ENST00000427869PHF1chr6

4863991

-PHF1chr6

4863276

+
3UTR-3UTRENST00000487460ENST00000487460PHF1chr6

4863991

-PHF1chr6

4863276

+
3UTR-5UTRENST00000487460ENST00000475137PHF1chr6

4863991

-PHF1chr6

4863276

+
3UTR-intronENST00000475137ENST00000459809PHF1chr6

4863991

-PHF1chr6

4863276

+
3UTR-intronENST00000475137ENST00000374512PHF1chr6

4863991

-PHF1chr6

4863276

+
3UTR-intronENST00000475137ENST00000374516PHF1chr6

4863991

-PHF1chr6

4863276

+
3UTR-intronENST00000475137ENST00000442136PHF1chr6

4863991

-PHF1chr6

4863276

+
3UTR-intronENST00000475137ENST00000454914PHF1chr6

4863991

-PHF1chr6

4863276

+
3UTR-intronENST00000475137ENST00000427869PHF1chr6

4863991

-PHF1chr6

4863276

+
3UTR-3UTRENST00000475137ENST00000487460PHF1chr6

4863991

-PHF1chr6

4863276

+
3UTR-5UTRENST00000475137ENST00000475137PHF1chr6

4863991

-PHF1chr6

4863276

+

Top

FusionProtFeatures for PHF1_PHF1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PHF1

O43189

PHF1

O43189

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}.

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


Top

FusionGeneSequence for PHF1_PHF1


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).

Top

FusionGenePPI for PHF1_PHF1


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


Top

RelatedDrugs for PHF1_PHF1


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

Top

RelatedDiseases for PHF1_PHF1


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