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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: 4335

FusionGeneSummary for BPTF_BCAS3

check button Fusion gene summary
Fusion gene informationFusion gene name: BPTF_BCAS3
Fusion gene ID: 4335
HgeneTgene
Gene symbol

BPTF

BCAS3

Gene ID

2186

54828

Gene namebromodomain PHD finger transcription factorBCAS3, microtubule associated cell migration factor
SynonymsFAC1|FALZ|NEDDFL|NURF301GAOB1|MAAB
Cytomap

17q24.2

17q23.2

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 fbreast carcinoma-amplified sequence 3BCAS4/BCAS3 fusionRudhirabreast carcinoma amplified sequence 4/3 fusion proteinmetastasis associated antigen of breast cancerprotein Maab1
Modification date2018051920180523
UniProtAcc

Q12830

Q9H6U6

Ensembl transtripts involved in fusion geneENST00000335221, ENST00000321892, 
ENST00000306378, ENST00000424123, 
ENST00000577770, 
ENST00000589222, 
ENST00000407086, ENST00000390652, 
ENST00000408905, ENST00000588462, 
ENST00000585744, ENST00000588874, 
ENST00000585812, 
Fusion gene scores* DoF score20 X 16 X 10=320026 X 15 X 15=5850
# samples 2541
** MAII scorelog2(25/3200*10)=-3.67807190511264
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(41/5850*10)=-3.83474080985268
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: BPTF [Title/Abstract] AND BCAS3 [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
HgeneBPTF

GO:0000122

negative regulation of transcription by RNA polymerase II

10727212

HgeneBPTF

GO:0006338

chromatin remodeling

14609955

TgeneBCAS3

GO:0043085

positive regulation of catalytic activity

17505058

TgeneBCAS3

GO:0045944

positive regulation of transcription by RNA polymerase II

17505058

TgeneBCAS3

GO:0071391

cellular response to estrogen stimulus

17505058


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
TCGARVLUADTCGA-67-6217-01ABPTFchr17

65936772

+BCAS3chr17

59445688

+
* 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-shitENST00000335221ENST00000589222BPTFchr17

65936772

+BCAS3chr17

59445688

+
Frame-shitENST00000335221ENST00000407086BPTFchr17

65936772

+BCAS3chr17

59445688

+
Frame-shitENST00000335221ENST00000390652BPTFchr17

65936772

+BCAS3chr17

59445688

+
Frame-shitENST00000335221ENST00000408905BPTFchr17

65936772

+BCAS3chr17

59445688

+
Frame-shitENST00000335221ENST00000588462BPTFchr17

65936772

+BCAS3chr17

59445688

+
Frame-shitENST00000335221ENST00000585744BPTFchr17

65936772

+BCAS3chr17

59445688

+
Frame-shitENST00000335221ENST00000588874BPTFchr17

65936772

+BCAS3chr17

59445688

+
5CDS-3UTRENST00000335221ENST00000585812BPTFchr17

65936772

+BCAS3chr17

59445688

+
Frame-shitENST00000321892ENST00000589222BPTFchr17

65936772

+BCAS3chr17

59445688

+
Frame-shitENST00000321892ENST00000407086BPTFchr17

65936772

+BCAS3chr17

59445688

+
Frame-shitENST00000321892ENST00000390652BPTFchr17

65936772

+BCAS3chr17

59445688

+
Frame-shitENST00000321892ENST00000408905BPTFchr17

65936772

+BCAS3chr17

59445688

+
Frame-shitENST00000321892ENST00000588462BPTFchr17

65936772

+BCAS3chr17

59445688

+
Frame-shitENST00000321892ENST00000585744BPTFchr17

65936772

+BCAS3chr17

59445688

+
Frame-shitENST00000321892ENST00000588874BPTFchr17

65936772

+BCAS3chr17

59445688

+
5CDS-3UTRENST00000321892ENST00000585812BPTFchr17

65936772

+BCAS3chr17

59445688

+
Frame-shitENST00000306378ENST00000589222BPTFchr17

65936772

+BCAS3chr17

59445688

+
Frame-shitENST00000306378ENST00000407086BPTFchr17

65936772

+BCAS3chr17

59445688

+
Frame-shitENST00000306378ENST00000390652BPTFchr17

65936772

+BCAS3chr17

59445688

+
Frame-shitENST00000306378ENST00000408905BPTFchr17

65936772

+BCAS3chr17

59445688

+
Frame-shitENST00000306378ENST00000588462BPTFchr17

65936772

+BCAS3chr17

59445688

+
Frame-shitENST00000306378ENST00000585744BPTFchr17

65936772

+BCAS3chr17

59445688

+
Frame-shitENST00000306378ENST00000588874BPTFchr17

65936772

+BCAS3chr17

59445688

+
5CDS-3UTRENST00000306378ENST00000585812BPTFchr17

65936772

+BCAS3chr17

59445688

+
Frame-shitENST00000424123ENST00000589222BPTFchr17

65936772

+BCAS3chr17

59445688

+
Frame-shitENST00000424123ENST00000407086BPTFchr17

65936772

+BCAS3chr17

59445688

+
Frame-shitENST00000424123ENST00000390652BPTFchr17

65936772

+BCAS3chr17

59445688

+
Frame-shitENST00000424123ENST00000408905BPTFchr17

65936772

+BCAS3chr17

59445688

+
Frame-shitENST00000424123ENST00000588462BPTFchr17

65936772

+BCAS3chr17

59445688

+
Frame-shitENST00000424123ENST00000585744BPTFchr17

65936772

+BCAS3chr17

59445688

+
Frame-shitENST00000424123ENST00000588874BPTFchr17

65936772

+BCAS3chr17

59445688

+
5CDS-3UTRENST00000424123ENST00000585812BPTFchr17

65936772

+BCAS3chr17

59445688

+
3UTR-3CDSENST00000577770ENST00000589222BPTFchr17

65936772

+BCAS3chr17

59445688

+
3UTR-3CDSENST00000577770ENST00000407086BPTFchr17

65936772

+BCAS3chr17

59445688

+
3UTR-3CDSENST00000577770ENST00000390652BPTFchr17

65936772

+BCAS3chr17

59445688

+
3UTR-3CDSENST00000577770ENST00000408905BPTFchr17

65936772

+BCAS3chr17

59445688

+
3UTR-3CDSENST00000577770ENST00000588462BPTFchr17

65936772

+BCAS3chr17

59445688

+
3UTR-3CDSENST00000577770ENST00000585744BPTFchr17

65936772

+BCAS3chr17

59445688

+
3UTR-3CDSENST00000577770ENST00000588874BPTFchr17

65936772

+BCAS3chr17

59445688

+
3UTR-3UTRENST00000577770ENST00000585812BPTFchr17

65936772

+BCAS3chr17

59445688

+

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FusionProtFeatures for BPTF_BCAS3


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

Q12830

BCAS3

Q9H6U6

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_BCAS3


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_BCAS3


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, BRCA1BCAS3CTBP1, CTBP2, CDC23, C16orf70, ZDHHC17, ESR1, PELP1, HIST1H3A, KAT2B, WIPI2, ATM, BAG4, CCND1, FBXW7, KRAS, PALB2, PHB, PTPN1, SMAD4, STK11, TGFB1, TSG101, XRCC3, OFD1, CEP128, FBF1, NPHP1, SCLT1, XPO1, CD14, HDAC1, IRF3, MAGEE1, IL17RA, DOCK5, VWA5A, RAB2B


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 BPTF_BCAS3


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_BCAS3


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