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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: 4347

FusionGeneSummary for BPTF_RAD17

check button Fusion gene summary
Fusion gene informationFusion gene name: BPTF_RAD17
Fusion gene ID: 4347
HgeneTgene
Gene symbol

BPTF

RAD17

Gene ID

2186

5884

Gene namebromodomain PHD finger transcription factorRAD17 checkpoint clamp loader component
SynonymsFAC1|FALZ|NEDDFL|NURF301CCYC|HRAD17|R24L|RAD17SP|RAD24
Cytomap

17q24.2

5q13.2

Type of geneprotein-codingprotein-coding
Descriptionnucleosome-remodeling factor subunit BPTFbromodomain and PHD domain transcription factorbromodomain and PHD finger-containing transcription factorfetal Alz-50 clone 1 proteinfetal Alz-50 reactive clone 1fetal Alzheimer antigennucleosome remodeling fcell cycle checkpoint protein RAD17RAD1 homologRAD17 homologRF-C activator 1 homologRad17-like proteincell cycle checkpoint protein (RAD17)
Modification date2018051920180523
UniProtAcc

Q12830

O75943

Ensembl transtripts involved in fusion geneENST00000335221, ENST00000321892, 
ENST00000306378, ENST00000424123, 
ENST00000577770, 
ENST00000361732, 
ENST00000509734, ENST00000354868, 
ENST00000521422, ENST00000504177, 
ENST00000354312, ENST00000345306, 
ENST00000305138, ENST00000282891, 
ENST00000358030, ENST00000380774, 
Fusion gene scores* DoF score20 X 16 X 10=32005 X 5 X 4=100
# samples 255
** MAII scorelog2(25/3200*10)=-3.67807190511264
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/100*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: BPTF [Title/Abstract] AND RAD17 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationDDR (DNA damage repair) gene involved fusion gene, retained protein feature but frameshift.
* 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
HgeneBPTF

GO:0000122

negative regulation of transcription by RNA polymerase II

10727212

HgeneBPTF

GO:0006338

chromatin remodeling

14609955


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
TCGARVUCECTCGA-D1-A3JP-01ABPTFchr17

65871860

+RAD17chr5

68692224

+
* 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-shiftENST00000335221ENST00000361732BPTFchr17

65871860

+RAD17chr5

68692224

+
Frame-shiftENST00000335221ENST00000509734BPTFchr17

65871860

+RAD17chr5

68692224

+
Frame-shiftENST00000335221ENST00000354868BPTFchr17

65871860

+RAD17chr5

68692224

+
Frame-shiftENST00000335221ENST00000521422BPTFchr17

65871860

+RAD17chr5

68692224

+
5CDS-intronENST00000335221ENST00000504177BPTFchr17

65871860

+RAD17chr5

68692224

+
5CDS-intronENST00000335221ENST00000354312BPTFchr17

65871860

+RAD17chr5

68692224

+
5CDS-intronENST00000335221ENST00000345306BPTFchr17

65871860

+RAD17chr5

68692224

+
5CDS-intronENST00000335221ENST00000305138BPTFchr17

65871860

+RAD17chr5

68692224

+
5CDS-intronENST00000335221ENST00000282891BPTFchr17

65871860

+RAD17chr5

68692224

+
5CDS-intronENST00000335221ENST00000358030BPTFchr17

65871860

+RAD17chr5

68692224

+
5CDS-intronENST00000335221ENST00000380774BPTFchr17

65871860

+RAD17chr5

68692224

+
Frame-shiftENST00000321892ENST00000361732BPTFchr17

65871860

+RAD17chr5

68692224

+
Frame-shiftENST00000321892ENST00000509734BPTFchr17

65871860

+RAD17chr5

68692224

+
Frame-shiftENST00000321892ENST00000354868BPTFchr17

65871860

+RAD17chr5

68692224

+
Frame-shiftENST00000321892ENST00000521422BPTFchr17

65871860

+RAD17chr5

68692224

+
5CDS-intronENST00000321892ENST00000504177BPTFchr17

65871860

+RAD17chr5

68692224

+
5CDS-intronENST00000321892ENST00000354312BPTFchr17

65871860

+RAD17chr5

68692224

+
5CDS-intronENST00000321892ENST00000345306BPTFchr17

65871860

+RAD17chr5

68692224

+
5CDS-intronENST00000321892ENST00000305138BPTFchr17

65871860

+RAD17chr5

68692224

+
5CDS-intronENST00000321892ENST00000282891BPTFchr17

65871860

+RAD17chr5

68692224

+
5CDS-intronENST00000321892ENST00000358030BPTFchr17

65871860

+RAD17chr5

68692224

+
5CDS-intronENST00000321892ENST00000380774BPTFchr17

65871860

+RAD17chr5

68692224

+
intron-3CDSENST00000306378ENST00000361732BPTFchr17

65871860

+RAD17chr5

68692224

+
intron-3CDSENST00000306378ENST00000509734BPTFchr17

65871860

+RAD17chr5

68692224

+
intron-3CDSENST00000306378ENST00000354868BPTFchr17

65871860

+RAD17chr5

68692224

+
intron-3CDSENST00000306378ENST00000521422BPTFchr17

65871860

+RAD17chr5

68692224

+
intron-intronENST00000306378ENST00000504177BPTFchr17

65871860

+RAD17chr5

68692224

+
intron-intronENST00000306378ENST00000354312BPTFchr17

65871860

+RAD17chr5

68692224

+
intron-intronENST00000306378ENST00000345306BPTFchr17

65871860

+RAD17chr5

68692224

+
intron-intronENST00000306378ENST00000305138BPTFchr17

65871860

+RAD17chr5

68692224

+
intron-intronENST00000306378ENST00000282891BPTFchr17

65871860

+RAD17chr5

68692224

+
intron-intronENST00000306378ENST00000358030BPTFchr17

65871860

+RAD17chr5

68692224

+
intron-intronENST00000306378ENST00000380774BPTFchr17

65871860

+RAD17chr5

68692224

+
Frame-shiftENST00000424123ENST00000361732BPTFchr17

65871860

+RAD17chr5

68692224

+
Frame-shiftENST00000424123ENST00000509734BPTFchr17

65871860

+RAD17chr5

68692224

+
Frame-shiftENST00000424123ENST00000354868BPTFchr17

65871860

+RAD17chr5

68692224

+
Frame-shiftENST00000424123ENST00000521422BPTFchr17

65871860

+RAD17chr5

68692224

+
5CDS-intronENST00000424123ENST00000504177BPTFchr17

65871860

+RAD17chr5

68692224

+
5CDS-intronENST00000424123ENST00000354312BPTFchr17

65871860

+RAD17chr5

68692224

+
5CDS-intronENST00000424123ENST00000345306BPTFchr17

65871860

+RAD17chr5

68692224

+
5CDS-intronENST00000424123ENST00000305138BPTFchr17

65871860

+RAD17chr5

68692224

+
5CDS-intronENST00000424123ENST00000282891BPTFchr17

65871860

+RAD17chr5

68692224

+
5CDS-intronENST00000424123ENST00000358030BPTFchr17

65871860

+RAD17chr5

68692224

+
5CDS-intronENST00000424123ENST00000380774BPTFchr17

65871860

+RAD17chr5

68692224

+
intron-3CDSENST00000577770ENST00000361732BPTFchr17

65871860

+RAD17chr5

68692224

+
intron-3CDSENST00000577770ENST00000509734BPTFchr17

65871860

+RAD17chr5

68692224

+
intron-3CDSENST00000577770ENST00000354868BPTFchr17

65871860

+RAD17chr5

68692224

+
intron-3CDSENST00000577770ENST00000521422BPTFchr17

65871860

+RAD17chr5

68692224

+
intron-intronENST00000577770ENST00000504177BPTFchr17

65871860

+RAD17chr5

68692224

+
intron-intronENST00000577770ENST00000354312BPTFchr17

65871860

+RAD17chr5

68692224

+
intron-intronENST00000577770ENST00000345306BPTFchr17

65871860

+RAD17chr5

68692224

+
intron-intronENST00000577770ENST00000305138BPTFchr17

65871860

+RAD17chr5

68692224

+
intron-intronENST00000577770ENST00000282891BPTFchr17

65871860

+RAD17chr5

68692224

+
intron-intronENST00000577770ENST00000358030BPTFchr17

65871860

+RAD17chr5

68692224

+
intron-intronENST00000577770ENST00000380774BPTFchr17

65871860

+RAD17chr5

68692224

+

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FusionProtFeatures for BPTF_RAD17


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

Q12830

RAD17

O75943

Histone-binding component of NURF (nucleosome-remodelingfactor), a complex which catalyzes ATP-dependent nucleosomesliding and facilitates transcription of chromatin. Specificallyrecognizes H3 tails trimethylated on 'Lys-4' (H3K4me3), which marktranscription start sites of virtually all active genes. May alsoregulate transcription through direct binding to DNA ortranscription factors.

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 BPTF_RAD17


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 BPTF_RAD17


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
BPTFMAZ, SMAD2, SMAD3, HIST1H3A, SMARCA1, RBBP4, RBBP7, USF1, SQSTM1, H3F3A, SIRT7, HIST1H4I, PGR, KEAP1, HMGXB4, NCOR1, SMARCD2, HIST3H3, CBX6, NFE2L2, C17orf49, CUL7, EED, BUB1, DEK, KIAA1429, SNRNP200, TFAP4, LLGL2, SMC1A, TIMM13, FOXK2, POU5F1, WHSC1L1, EGFR, RFXANK, HSPB7, NCAPH2, DLST, BRCA1RAD17ATM, ATR, PRKDC, RAD9B, RAD9A, RFC2, RFC3, RFC4, RFC5, POLE, POLE2, POLE3, POLE4, HUS1, RAD1, NHP2L1, RFC1, USP20, ALK, CLSPN, FOXO3, H2AFX, CDH1, CBX6, CBX7, PRMT6, COPS7A, CHEK2, CHEK1, TOP1, TOP2A, TOP3A


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 BPTF_RAD17


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 BPTF_RAD17


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneBPTFC0005695Bladder Neoplasm1CTD_human