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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: 26896

FusionGeneSummary for PHF11_SETDB2

check button Fusion gene summary
Fusion gene informationFusion gene name: PHF11_SETDB2
Fusion gene ID: 26896
HgeneTgene
Gene symbol

PHF11

SETDB2

Gene ID

51131

83852

Gene namePHD finger protein 11SET domain bifurcated 2
SynonymsAPY|BCAP|IGEL|IGER|IGHER|NY-REN-34|NYREN34C13orf4|CLLD8|CLLL8|KMT1F
Cytomap

13q14.2

13q14.2

Type of geneprotein-codingprotein-coding
DescriptionPHD finger protein 11BRCA1 C-terminus-associated proteinIgE responsiveness (atopic)renal carcinoma antigen NY-REN-34histone-lysine N-methyltransferase SETDB2chronic lymphocytic leukemia deletion region gene 8 proteinlysine N-methyltransferase 1F
Modification date2018052720180519
UniProtAcc

Q9UIL8

Q96T68

Ensembl transtripts involved in fusion geneENST00000378319, ENST00000357596, 
ENST00000488958, ENST00000460489, 
ENST00000354234, ENST00000317257, 
ENST00000481439, ENST00000258672, 
Fusion gene scores* DoF score1 X 1 X 1=12 X 2 X 2=8
# samples 12
** MAII scorelog2(1/1*10)=3.32192809488736log2(2/8*10)=1.32192809488736
Context

PubMed: PHF11 [Title/Abstract] AND SETDB2 [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
TgeneSETDB2

GO:0051567

histone H3-K9 methylation

20404330


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
TCGARVLUSCTCGA-NC-A5HJ-01APHF11chr13

50098352

+SETDB2chr13

50054355

+
* 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
Frame-shiftENST00000378319ENST00000354234PHF11chr13

50098352

+SETDB2chr13

50054355

+
Frame-shiftENST00000378319ENST00000317257PHF11chr13

50098352

+SETDB2chr13

50054355

+
5CDS-intronENST00000378319ENST00000481439PHF11chr13

50098352

+SETDB2chr13

50054355

+
5CDS-intronENST00000378319ENST00000258672PHF11chr13

50098352

+SETDB2chr13

50054355

+
Frame-shiftENST00000357596ENST00000354234PHF11chr13

50098352

+SETDB2chr13

50054355

+
Frame-shiftENST00000357596ENST00000317257PHF11chr13

50098352

+SETDB2chr13

50054355

+
5CDS-intronENST00000357596ENST00000481439PHF11chr13

50098352

+SETDB2chr13

50054355

+
5CDS-intronENST00000357596ENST00000258672PHF11chr13

50098352

+SETDB2chr13

50054355

+
Frame-shiftENST00000488958ENST00000354234PHF11chr13

50098352

+SETDB2chr13

50054355

+
Frame-shiftENST00000488958ENST00000317257PHF11chr13

50098352

+SETDB2chr13

50054355

+
5CDS-intronENST00000488958ENST00000481439PHF11chr13

50098352

+SETDB2chr13

50054355

+
5CDS-intronENST00000488958ENST00000258672PHF11chr13

50098352

+SETDB2chr13

50054355

+
intron-3CDSENST00000460489ENST00000354234PHF11chr13

50098352

+SETDB2chr13

50054355

+
intron-3CDSENST00000460489ENST00000317257PHF11chr13

50098352

+SETDB2chr13

50054355

+
intron-intronENST00000460489ENST00000481439PHF11chr13

50098352

+SETDB2chr13

50054355

+
intron-intronENST00000460489ENST00000258672PHF11chr13

50098352

+SETDB2chr13

50054355

+

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FusionProtFeatures for PHF11_SETDB2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PHF11

Q9UIL8

SETDB2

Q96T68

Positive regulator of Th1-type cytokine gene expression.{ECO:0000269|PubMed:18405956}. Histone methyltransferase involved in left-right axisspecification in early development and mitosis. Specificallytrimethylates 'Lys-9' of histone H3 (H3K9me3). H3K9me3 is aspecific tag for epigenetic transcriptional repression thatrecruits HP1 (CBX1, CBX3 and/or CBX5) proteins to methylatedhistones. Contributes to H3K9me3 in both the interspersedrepetitive elements and centromere-associated repeats. Plays arole in chromosome condensation and segregation during mitosis.{ECO:0000269|PubMed:20404330}.

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 PHF11_SETDB2


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 PHF11_SETDB2


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
PHF11CSNK2B, PIAS4, AGPAT2, LSM8, MCPH1, SULT1A2SETDB2ARL14EP, SENP7, ZNF445, DHX16, SELENBP1, DUSP14, DSG4, LYG2, HEPHL1, LRRC15


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 PHF11_SETDB2


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 PHF11_SETDB2


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