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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: 32290

FusionGeneSummary for RSF1_PHF12

check button Fusion gene summary
Fusion gene informationFusion gene name: RSF1_PHF12
Fusion gene ID: 32290
HgeneTgene
Gene symbol

RSF1

PHF12

Gene ID

51773

57649

Gene nameremodeling and spacing factor 1PHD finger protein 12
SynonymsHBXAP|RSF-1|XAP8|p325PF1
Cytomap

11q14.1

17q11.2

Type of geneprotein-codingprotein-coding
Descriptionremodeling and spacing factor 1HBV pX-associated protein 8hepatitis B virus x-associated proteinp325 subunit of RSF chromatin-remodeling complexPHD finger protein 12PHD factor 1PHD zinc finger transcription factor
Modification date2018052320180523
UniProtAcc

Q96T23

Q96QT6

Ensembl transtripts involved in fusion geneENST00000308488, ENST00000360355, 
ENST00000480887, ENST00000530604, 
ENST00000332830, ENST00000577226, 
ENST00000268756, ENST00000582655, 
Fusion gene scores* DoF score15 X 8 X 9=10807 X 6 X 5=210
# samples 178
** MAII scorelog2(17/1080*10)=-2.66742466091313
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(8/210*10)=-1.39231742277876
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: RSF1 [Title/Abstract] AND PHF12 [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
HgeneRSF1

GO:0006334

nucleosome assembly

12972596

HgeneRSF1

GO:0006338

chromatin remodeling

9836642

HgeneRSF1

GO:0006352

DNA-templated transcription, initiation

9836642

HgeneRSF1

GO:0016584

nucleosome positioning

9836642

HgeneRSF1

GO:0043392

negative regulation of DNA binding

12972596

HgeneRSF1

GO:0045892

negative regulation of transcription, DNA-templated

11944984

HgeneRSF1

GO:0045893

positive regulation of transcription, DNA-templated

11788598

HgeneRSF1

GO:0050434

positive regulation of viral transcription

11788598

TgenePHF12

GO:0000122

negative regulation of transcription by RNA polymerase II

22048773

TgenePHF12

GO:0045892

negative regulation of transcription, DNA-templated

11390640


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
TCGARVBRCATCGA-A1-A0SM-01ARSF1chr11

77531574

-PHF12chr17

27254081

-
* 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-shitENST00000308488ENST00000332830RSF1chr11

77531574

-PHF12chr17

27254081

-
Frame-shitENST00000308488ENST00000577226RSF1chr11

77531574

-PHF12chr17

27254081

-
Frame-shitENST00000308488ENST00000268756RSF1chr11

77531574

-PHF12chr17

27254081

-
5CDS-intronENST00000308488ENST00000582655RSF1chr11

77531574

-PHF12chr17

27254081

-
Frame-shitENST00000360355ENST00000332830RSF1chr11

77531574

-PHF12chr17

27254081

-
Frame-shitENST00000360355ENST00000577226RSF1chr11

77531574

-PHF12chr17

27254081

-
Frame-shitENST00000360355ENST00000268756RSF1chr11

77531574

-PHF12chr17

27254081

-
5CDS-intronENST00000360355ENST00000582655RSF1chr11

77531574

-PHF12chr17

27254081

-
intron-3CDSENST00000480887ENST00000332830RSF1chr11

77531574

-PHF12chr17

27254081

-
intron-3CDSENST00000480887ENST00000577226RSF1chr11

77531574

-PHF12chr17

27254081

-
intron-3CDSENST00000480887ENST00000268756RSF1chr11

77531574

-PHF12chr17

27254081

-
intron-intronENST00000480887ENST00000582655RSF1chr11

77531574

-PHF12chr17

27254081

-
5UTR-3CDSENST00000530604ENST00000332830RSF1chr11

77531574

-PHF12chr17

27254081

-
5UTR-3CDSENST00000530604ENST00000577226RSF1chr11

77531574

-PHF12chr17

27254081

-
5UTR-3CDSENST00000530604ENST00000268756RSF1chr11

77531574

-PHF12chr17

27254081

-
5UTR-intronENST00000530604ENST00000582655RSF1chr11

77531574

-PHF12chr17

27254081

-

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FusionProtFeatures for RSF1_PHF12


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RSF1

Q96T23

PHF12

Q96QT6

Required for assembly of regular nucleosome arrays bythe RSF chromatin-remodeling complex (PubMed:12972596).Facilitates transcription of hepatitis B virus (HBV) genes by thepX transcription activator. In case of infection by HBV, togetherwith pX, it represses TNF-alpha induced NF-kappa-B transcriptionactivation. Represses transcription when artificially recruited tochromatin by fusion to a heterogeneous DNA binding domain(PubMed:11944984, PubMed:11788598). {ECO:0000269|PubMed:11788598,ECO:0000269|PubMed:11944984, ECO:0000269|PubMed:12972596}. Acts as a transcriptional repressor. Involved inrecruitment of functional SIN3A complexes to DNA. Repressestranscription at least in part through the activity of anassociated histone deacetylase (HDAC). May also represstranscription in a SIN3A-independent manner through recruitment offunctional AES complexes to DNA. {ECO:0000269|PubMed:11390640,ECO:0000303|PubMed:11390640}.

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 RSF1_PHF12


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 RSF1_PHF12


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
RSF1NFKB1, SMARCA5, CENPA, SIRT7, SP1, COPS6, CSNK2A1, HIST1H2BG, HIST1H3A, EWSR1, MARK2, ATXN3, KAT6A, MCM2PHF12SIN3A, HDAC1, SAP30, MORF4L1, MORF4L2, BRCA1, HIST3H3, GATAD1, RBBP7, HDAC2, KDM5A, S100A4, SIN3B, C11orf30, SPICE1, ZNF281, ZNF131, QSER1, CHD9, PHF12, TUBA4A, ZNF143, DPM1, ZNF335, RBFOX2, RBFOX1, H2AFY, BAG2, HSPB1, NFE2L1, TUBB8, DNAJA3, SENP1, ABCF2, GPATCH8, ABCG2


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 RSF1_PHF12


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 RSF1_PHF12


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