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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: 42525

FusionGeneSummary for ZBTB4_RARA

check button Fusion gene summary
Fusion gene informationFusion gene name: ZBTB4_RARA
Fusion gene ID: 42525
HgeneTgene
Gene symbol

ZBTB4

RARA

Gene ID

57659

5914

Gene namezinc finger and BTB domain containing 4retinoic acid receptor alpha
SynonymsKAISO-L1|ZNF903NR1B1|RAR
Cytomap

17p13.1

17q21.2

Type of geneprotein-codingprotein-coding
Descriptionzinc finger and BTB domain-containing protein 4KAISO-like zinc finger protein 1retinoic acid receptor alphaRAR-alphanuclear receptor subfamily 1 group B member 1nucleophosmin-retinoic acid receptor alpha fusion protein NPM-RAR long formretinoic acid nuclear receptor alpha variant 1retinoic acid nuclear receptor alpha variant 2
Modification date2018052320180523
UniProtAcc

Q9P1Z0

P10276

Ensembl transtripts involved in fusion geneENST00000380599, ENST00000311403, 
ENST00000254066, ENST00000394089, 
ENST00000425707, ENST00000394086, 
ENST00000394081, ENST00000420042, 
Fusion gene scores* DoF score4 X 3 X 4=4818 X 16 X 10=2880
# samples 442
** MAII scorelog2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(42/2880*10)=-2.77760757866355
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ZBTB4 [Title/Abstract] AND RARA [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
HgeneZBTB4

GO:0000122

negative regulation of transcription by RNA polymerase II

16354688

HgeneZBTB4

GO:0006974

cellular response to DNA damage stimulus

19448668

HgeneZBTB4

GO:0045892

negative regulation of transcription, DNA-templated

16354688

TgeneRARA

GO:0007165

signal transduction

2825025

TgeneRARA

GO:0030853

negative regulation of granulocyte differentiation

19917671

TgeneRARA

GO:0032689

negative regulation of interferon-gamma production

18416830

TgeneRARA

GO:0032720

negative regulation of tumor necrosis factor production

18416830

TgeneRARA

GO:0032736

positive regulation of interleukin-13 production

18416830

TgeneRARA

GO:0032753

positive regulation of interleukin-4 production

18416830

TgeneRARA

GO:0032754

positive regulation of interleukin-5 production

18416830

TgeneRARA

GO:0045630

positive regulation of T-helper 2 cell differentiation

18416830

TgeneRARA

GO:0045892

negative regulation of transcription, DNA-templated

20080953

TgeneRARA

GO:0045893

positive regulation of transcription, DNA-templated

18845237|19850744|20080953

TgeneRARA

GO:0045944

positive regulation of transcription by RNA polymerase II

19850744

TgeneRARA

GO:0071300

cellular response to retinoic acid

19917671

TgeneRARA

GO:0071391

cellular response to estrogen stimulus

20080953


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
TCGALDPCPGTCGA-WB-A81E-01AZBTB4chr17

7365738

-RARAchr17

38487109

+
* 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
intron-5UTRENST00000380599ENST00000254066ZBTB4chr17

7365738

-RARAchr17

38487109

+
intron-5UTRENST00000380599ENST00000394089ZBTB4chr17

7365738

-RARAchr17

38487109

+
intron-5UTRENST00000380599ENST00000425707ZBTB4chr17

7365738

-RARAchr17

38487109

+
intron-intronENST00000380599ENST00000394086ZBTB4chr17

7365738

-RARAchr17

38487109

+
intron-intronENST00000380599ENST00000394081ZBTB4chr17

7365738

-RARAchr17

38487109

+
intron-intronENST00000380599ENST00000420042ZBTB4chr17

7365738

-RARAchr17

38487109

+
intron-5UTRENST00000311403ENST00000254066ZBTB4chr17

7365738

-RARAchr17

38487109

+
intron-5UTRENST00000311403ENST00000394089ZBTB4chr17

7365738

-RARAchr17

38487109

+
intron-5UTRENST00000311403ENST00000425707ZBTB4chr17

7365738

-RARAchr17

38487109

+
intron-intronENST00000311403ENST00000394086ZBTB4chr17

7365738

-RARAchr17

38487109

+
intron-intronENST00000311403ENST00000394081ZBTB4chr17

7365738

-RARAchr17

38487109

+
intron-intronENST00000311403ENST00000420042ZBTB4chr17

7365738

-RARAchr17

38487109

+

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FusionProtFeatures for ZBTB4_RARA


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ZBTB4

Q9P1Z0

RARA

P10276

Transcriptional repressor with bimodal DNA-bindingspecificity. Represses transcription in a methyl-CpG-dependentmanner. Binds with a higher affinity to methylated CpGdinucleotides in the consensus sequence 5'-CGCG-3' but can alsobind to the non-methylated consensus sequence 5'-CTGCNA-3' alsoknown as the consensus kaiso binding site (KBS). Can also bindspecifically to a single methyl-CpG pair and can bindhemimethylated DNA but with a lower affinity compared tomethylated DNA (PubMed:16354688). Plays a role in postnatalmyogenesis, may be involved in the regulation of satellite cellsself-renewal (By similarity). {ECO:0000250|UniProtKB:Q5F293,ECO:0000269|PubMed:16354688}. Receptor for retinoic acid. Retinoic acid receptors bindas heterodimers to their target response elements in response totheir ligands, all-trans or 9-cis retinoic acid, and regulate geneexpression in various biological processes. The RXR/RARheterodimers bind to the retinoic acid response elements (RARE)composed of tandem 5'-AGGTCA-3' sites known as DR1-DR5. In theabsence of ligand, the RXR-RAR heterodimers associate with amultiprotein complex containing transcription corepressors thatinduce histone acetylation, chromatin condensation andtranscriptional suppression. On ligand binding, the corepressorsdissociate from the receptors and associate with the coactivatorsleading to transcriptional activation. RARA plays an essentialrole in the regulation of retinoic acid-induced germ celldevelopment during spermatogenesis. Has a role in the survival ofearly spermatocytes at the beginning prophase of meiosis. InSertoli cells, may promote the survival and development of earlymeiotic prophase spermatocytes. In concert with RARG, required forskeletal growth, matrix homeostasis and growth plate function (Bysimilarity). {ECO:0000250|UniProtKB:P11416,ECO:0000269|PubMed:16417524, ECO:0000269|PubMed:19850744,ECO:0000269|PubMed:20215566}.

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 ZBTB4_RARA


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 ZBTB4_RARA


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
ZBTB4SIN3A, SIN3B, HIPK2, TP63, CBFA2T3, ZBTB17, PRDM5RARANRBF2, ZBTB16, MECR, RXRG, RXRB, NCOA6, GADD45G, GADD45A, NRIP1, KAT2B, HDAC3, HDAC4, TDG, PML, TRIP4, KDM5A, RXRA, POU2F1, NCOR2, NR0B2, BAG1, TADA3, NCOR1, NKX2-1, TRIM24, IRX4, SP1, NPAS2, CLOCK, ARNTL, NR2E3, CCND3, NCOA2, SRC, AJUBA, LIMD1, WTIP, SKI, HR, PIN1, SUV39H1, PSMC5, EP300, PARP1, MED6, TOP2B, SAP130, HNRNPU, RFC4, NPM1, MRTO4, SNRNP40, MED1, NCOA1, HMGA1, RUVBL1, RUNX1, SIAH1, RARA, HDAC2, NCOA3, CREBBP, LRIF1, KLF5, SMARCD3, ARID1A, SPI1, PRDX6, NR1H2, ITGB1BP2, MED25, MAPK6, FOXO1, MAPK1, TRIM32, PHF8, TNIP1, HACE1, SQSTM1, UBQLN1, ARID5A, UBE3A, PRAM1, FAS, PRAME, TBL1XR1, SUZ12, EZH2, USP7, TMEM54, MMS19, AKT1, FN1, WWOX, E2F1, MBD3, MTA2, CBX5, CEBPA, HDAC1, NSD1, TEKT4, SNW1, SIRT1, ACTN4, SRF, MDM2, ZNF131, RARG, RARB, TRIM25


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 ZBTB4_RARA


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneRARAP10276DB00210AdapaleneRetinoic acid receptor alphasmall moleculeapproved
TgeneRARAP10276DB00459AcitretinRetinoic acid receptor alphasmall moleculeapproved
TgeneRARAP10276DB00982IsotretinoinRetinoic acid receptor alphasmall moleculeapproved
TgeneRARAP10276DB00523AlitretinoinRetinoic acid receptor alphasmall moleculeapproved|investigational
TgeneRARAP10276DB00799TazaroteneRetinoic acid receptor alphasmall moleculeapproved|investigational
TgeneRARAP10276DB00755TretinoinRetinoic acid receptor alphasmall moleculeapproved|investigational|nutraceutical

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RelatedDiseases for ZBTB4_RARA


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneZBTB4C0023893Liver Cirrhosis, Experimental1CTD_human
TgeneRARAC0023487Acute Promyelocytic Leukemia22CTD_human;HPO;ORPHANET
TgeneRARAC0036341Schizophrenia3PSYGENET
TgeneRARAC0005586Bipolar Disorder1PSYGENET
TgeneRARAC0010701Phyllodes Tumor1CTD_human
TgeneRARAC0085183Neoplasms, Second Primary1CTD_human
TgeneRARAC0149940Sciatic Neuropathy1CTD_human
TgeneRARAC0206650Fibroadenoma1CTD_human
TgeneRARAC0525045Mood Disorders1PSYGENET
TgeneRARAC1458155Mammary Neoplasms1CTD_human
TgeneRARAC2239176Liver carcinoma1CTD_human