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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:BPTF-TTYH2 (FusionGDB2 ID:10165)

Fusion Gene Summary for BPTF-TTYH2

check button Fusion gene summary
Fusion gene informationFusion gene name: BPTF-TTYH2
Fusion gene ID: 10165
HgeneTgene
Gene symbol

BPTF

TTYH2

Gene ID

2186

94015

Gene namebromodomain PHD finger transcription factortweety family member 2
SynonymsFAC1|FALZ|NEDDFL|NURF301C17orf29
Cytomap

17q24.2

17q25.1

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 fprotein tweety homolog 2hTTY2tweety homolog 2
Modification date2020031320200313
UniProtAcc

Q12830

.
Ensembl transtripts involved in fusion geneENST00000335221, ENST00000321892, 
ENST00000306378, ENST00000424123, 
ENST00000577770, 		ENST00000269346, 
ENST00000529107, ENST00000534346, 
ENST00000441391, 
Fusion gene scores* DoF score27 X 21 X 13=73717 X 8 X 5=280
# samples 428
** MAII scorelog2(42/7371*10)=-4.1333991254172
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(8/280*10)=-1.8073549220576
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: BPTF [Title/Abstract] AND TTYH2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointBPTF(65822453)-TTYH2(72233433), # samples:2
Anticipated loss of major functional domain due to fusion event.BPTF-TTYH2 seems lost the major protein functional domain in Hgene partner, which is a transcription factor due to the frame-shifted ORF.
BPTF-TTYH2 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
BPTF-TTYH2 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
BPTF-TTYH2 seems lost the major protein functional domain in Hgene partner, which is a epigenetic factor due to the frame-shifted ORF.
* 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 buttonFusion gene breakpoints across BPTF (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across TTYH2 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4BLCATCGA-ZF-A9RE-01ABPTFchr17

65822453

+TTYH2chr17

72233433

+
ChimerDB4BLCATCGA-ZF-A9RE-01ABPTFchr17

65822453

+TTYH2chr17

72233433

+
ChimerDB4BLCATCGA-ZF-A9RE-01ABPTFchr17

65822453

-TTYH2chr17

72227027

+


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Fusion Gene ORF analysis for BPTF-TTYH2

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-shiftENST00000335221ENST00000269346BPTFchr17

65822453

+TTYH2chr17

72233433

+
Frame-shiftENST00000335221ENST00000529107BPTFchr17

65822453

+TTYH2chr17

72233433

+
5CDS-intronENST00000335221ENST00000534346BPTFchr17

65822453

+TTYH2chr17

72233433

+
5CDS-intronENST00000335221ENST00000441391BPTFchr17

65822453

+TTYH2chr17

72233433

+
Frame-shiftENST00000321892ENST00000269346BPTFchr17

65822453

+TTYH2chr17

72233433

+
Frame-shiftENST00000321892ENST00000529107BPTFchr17

65822453

+TTYH2chr17

72233433

+
5CDS-intronENST00000321892ENST00000534346BPTFchr17

65822453

+TTYH2chr17

72233433

+
5CDS-intronENST00000321892ENST00000441391BPTFchr17

65822453

+TTYH2chr17

72233433

+
Frame-shiftENST00000306378ENST00000269346BPTFchr17

65822453

+TTYH2chr17

72233433

+
Frame-shiftENST00000306378ENST00000529107BPTFchr17

65822453

+TTYH2chr17

72233433

+
5CDS-intronENST00000306378ENST00000534346BPTFchr17

65822453

+TTYH2chr17

72233433

+
5CDS-intronENST00000306378ENST00000441391BPTFchr17

65822453

+TTYH2chr17

72233433

+
Frame-shiftENST00000424123ENST00000269346BPTFchr17

65822453

+TTYH2chr17

72233433

+
Frame-shiftENST00000424123ENST00000529107BPTFchr17

65822453

+TTYH2chr17

72233433

+
5CDS-intronENST00000424123ENST00000534346BPTFchr17

65822453

+TTYH2chr17

72233433

+
5CDS-intronENST00000424123ENST00000441391BPTFchr17

65822453

+TTYH2chr17

72233433

+
intron-3CDSENST00000577770ENST00000269346BPTFchr17

65822453

+TTYH2chr17

72233433

+
intron-3CDSENST00000577770ENST00000529107BPTFchr17

65822453

+TTYH2chr17

72233433

+
intron-intronENST00000577770ENST00000534346BPTFchr17

65822453

+TTYH2chr17

72233433

+
intron-intronENST00000577770ENST00000441391BPTFchr17

65822453

+TTYH2chr17

72233433

+
Frame-shiftENST00000335221ENST00000269346BPTFchr17

65822453

-TTYH2chr17

72227027

+
Frame-shiftENST00000335221ENST00000529107BPTFchr17

65822453

-TTYH2chr17

72227027

+
5CDS-intronENST00000335221ENST00000534346BPTFchr17

65822453

-TTYH2chr17

72227027

+
5CDS-intronENST00000335221ENST00000441391BPTFchr17

65822453

-TTYH2chr17

72227027

+
Frame-shiftENST00000321892ENST00000269346BPTFchr17

65822453

-TTYH2chr17

72227027

+
Frame-shiftENST00000321892ENST00000529107BPTFchr17

65822453

-TTYH2chr17

72227027

+
5CDS-intronENST00000321892ENST00000534346BPTFchr17

65822453

-TTYH2chr17

72227027

+
5CDS-intronENST00000321892ENST00000441391BPTFchr17

65822453

-TTYH2chr17

72227027

+
Frame-shiftENST00000306378ENST00000269346BPTFchr17

65822453

-TTYH2chr17

72227027

+
Frame-shiftENST00000306378ENST00000529107BPTFchr17

65822453

-TTYH2chr17

72227027

+
5CDS-intronENST00000306378ENST00000534346BPTFchr17

65822453

-TTYH2chr17

72227027

+
5CDS-intronENST00000306378ENST00000441391BPTFchr17

65822453

-TTYH2chr17

72227027

+
Frame-shiftENST00000424123ENST00000269346BPTFchr17

65822453

-TTYH2chr17

72227027

+
Frame-shiftENST00000424123ENST00000529107BPTFchr17

65822453

-TTYH2chr17

72227027

+
5CDS-intronENST00000424123ENST00000534346BPTFchr17

65822453

-TTYH2chr17

72227027

+
5CDS-intronENST00000424123ENST00000441391BPTFchr17

65822453

-TTYH2chr17

72227027

+
intron-3CDSENST00000577770ENST00000269346BPTFchr17

65822453

-TTYH2chr17

72227027

+
intron-3CDSENST00000577770ENST00000529107BPTFchr17

65822453

-TTYH2chr17

72227027

+
intron-intronENST00000577770ENST00000534346BPTFchr17

65822453

-TTYH2chr17

72227027

+
intron-intronENST00000577770ENST00000441391BPTFchr17

65822453

-TTYH2chr17

72227027

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for BPTF-TTYH2


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)
BPTFchr1765822453+TTYH2chr1772233432+4.61E-151
BPTFchr1765822453+TTYH2chr1772233432+4.61E-151

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for BPTF-TTYH2


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

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

Q12830

.
FUNCTION: Histone-binding component of NURF (nucleosome-remodeling factor), a complex which catalyzes ATP-dependent nucleosome sliding and facilitates transcription of chromatin. Specifically recognizes H3 tails trimethylated on 'Lys-4' (H3K4me3), which mark transcription start sites of virtually all active genes. May also regulate transcription through direct binding to DNA or transcription factors.FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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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Fusion Gene Sequence for BPTF-TTYH2


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for BPTF-TTYH2


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


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Related Drugs for BPTF-TTYH2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for BPTF-TTYH2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneBPTFC0005684Malignant neoplasm of urinary bladder1CTD_human
HgeneBPTFC0005695Bladder Neoplasm1CTD_human
HgeneBPTFC3714756Intellectual Disability1GENOMICS_ENGLAND
HgeneBPTFC4540327NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES1GENOMICS_ENGLAND;UNIPROT