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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:BAZ1A-NKX2-1 (FusionGDB2 ID:HG11177TG7080)

Fusion Gene Summary for BAZ1A-NKX2-1

check button Fusion gene summary
Fusion gene informationFusion gene name: BAZ1A-NKX2-1
Fusion gene ID: hg11177tg7080
HgeneTgene
Gene symbol

BAZ1A

NKX2-1

Gene ID

11177

7080

Gene namebromodomain adjacent to zinc finger domain 1ANK2 homeobox 1
SynonymsACF1|WALp1|WCRF180|hACF1BCH|BHC|NK-2|NKX2.1|NKX2A|NMTC1|T/EBP|TEBP|TITF1|TTF-1|TTF1
Cytomap('BAZ1A')('NKX2-1')

14q13.1-q13.2

14q13.3

Type of geneprotein-codingprotein-coding
Descriptionbromodomain adjacent to zinc finger domain protein 1AATP-dependent chromatin remodeling proteinATP-utilizing chromatin assembly and remodeling factor 1CHRAC subunit ACF1hWALp1williams syndrome transcription factor-related chromatin-remodeling factor homeobox protein Nkx-2.1NK-2 homolog Ahomeobox protein NK-2 homolog Athyroid nuclear factor 1thyroid transcription factor 1thyroid-specific enhancer-binding protein
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000358716, ENST00000360310, 
ENST00000382422, ENST00000553853, 
Fusion gene scores* DoF score12 X 9 X 5=5401 X 1 X 1=1
# samples 121
** MAII scorelog2(12/540*10)=-2.16992500144231
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(1/1*10)=3.32192809488736
Context

PubMed: BAZ1A [Title/Abstract] AND NKX2-1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointBAZ1A(35331250)-NKX2-1(36988575), # samples:1
Anticipated loss of major functional domain due to fusion event.BAZ1A-NKX2-1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
BAZ1A-NKX2-1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
BAZ1A-NKX2-1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
BAZ1A-NKX2-1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
BAZ1A-NKX2-1 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
BAZ1A-NKX2-1 seems lost the major protein functional domain in Hgene partner, which is a epigenetic factor due to the frame-shifted ORF.
BAZ1A-NKX2-1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
BAZ1A-NKX2-1 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
BAZ1A-NKX2-1 seems lost the major protein functional domain in Hgene partner, which is a kinase due to the frame-shifted ORF.
BAZ1A-NKX2-1 seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF.
BAZ1A-NKX2-1 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
BAZ1A-NKX2-1 seems lost the major protein functional domain in Tgene partner, which is a transcription 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
HgeneBAZ1A

GO:0006261

DNA-dependent DNA replication

12434153

TgeneNKX2-1

GO:0000122

negative regulation of transcription by RNA polymerase II

23143308

TgeneNKX2-1

GO:0010628

positive regulation of gene expression

16960125

TgeneNKX2-1

GO:0010719

negative regulation of epithelial to mesenchymal transition

19293183

TgeneNKX2-1

GO:0030336

negative regulation of cell migration

19293183

TgeneNKX2-1

GO:0030512

negative regulation of transforming growth factor beta receptor signaling pathway

19293183

TgeneNKX2-1

GO:0045893

positive regulation of transcription, DNA-templated

14960358

TgeneNKX2-1

GO:0045944

positive regulation of transcription by RNA polymerase II

7559607|7713914|16960125


check buttonFusion gene breakpoints across BAZ1A (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure
check buttonFusion gene breakpoints across NKX2-1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check button Fusion gene information
* 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
ChimerDB4LUADTCGA-L9-A444-01ABAZ1Achr14

35331250

-NKX2-1chr14

36988575

-


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Fusion Gene ORF analysis for BAZ1A-NKX2-1

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
5CDS-5UTRENST00000358716ENST00000498187BAZ1Achr14

35331250

-NKX2-1chr14

36988575

-
5CDS-5UTRENST00000358716ENST00000518149BAZ1Achr14

35331250

-NKX2-1chr14

36988575

-
5CDS-5UTRENST00000358716ENST00000522719BAZ1Achr14

35331250

-NKX2-1chr14

36988575

-
5CDS-5UTRENST00000360310ENST00000498187BAZ1Achr14

35331250

-NKX2-1chr14

36988575

-
5CDS-5UTRENST00000360310ENST00000518149BAZ1Achr14

35331250

-NKX2-1chr14

36988575

-
5CDS-5UTRENST00000360310ENST00000522719BAZ1Achr14

35331250

-NKX2-1chr14

36988575

-
5CDS-5UTRENST00000382422ENST00000498187BAZ1Achr14

35331250

-NKX2-1chr14

36988575

-
5CDS-5UTRENST00000382422ENST00000518149BAZ1Achr14

35331250

-NKX2-1chr14

36988575

-
5CDS-5UTRENST00000382422ENST00000522719BAZ1Achr14

35331250

-NKX2-1chr14

36988575

-
5UTR-3CDSENST00000553853ENST00000354822BAZ1Achr14

35331250

-NKX2-1chr14

36988575

-
5UTR-5UTRENST00000553853ENST00000498187BAZ1Achr14

35331250

-NKX2-1chr14

36988575

-
5UTR-5UTRENST00000553853ENST00000518149BAZ1Achr14

35331250

-NKX2-1chr14

36988575

-
5UTR-5UTRENST00000553853ENST00000522719BAZ1Achr14

35331250

-NKX2-1chr14

36988575

-
Frame-shiftENST00000358716ENST00000354822BAZ1Achr14

35331250

-NKX2-1chr14

36988575

-
Frame-shiftENST00000360310ENST00000354822BAZ1Achr14

35331250

-NKX2-1chr14

36988575

-
In-frameENST00000382422ENST00000354822BAZ1Achr14

35331250

-NKX2-1chr14

36988575

-

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)
ENST00000382422BAZ1Achr1435331250-ENST00000354822NKX2-1chr1436988575-2730720281848606

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
ENST00000382422ENST00000354822BAZ1Achr1435331250-NKX2-1chr1436988575-0.015189990.98481005

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Fusion Genomic Features for BAZ1A-NKX2-1


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)

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.
genomic feature

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Fusion Protein Features for BAZ1A-NKX2-1


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr14:35331250/chr14:36988575)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
..
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

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
HgeneBAZ1Achr14:35331250chr14:36988575ENST00000358716-32622_1281301525.0DomainWAC
HgeneBAZ1Achr14:35331250chr14:36988575ENST00000360310-32722_1281301557.0DomainWAC
HgeneBAZ1Achr14:35331250chr14:36988575ENST00000382422-22622_1281301557.0DomainWAC
HgeneBAZ1Achr14:35331250chr14:36988575ENST00000358716-3261_1281301525.0RegionNote=Required for association with the CHRAC1/POLE3 complex
HgeneBAZ1Achr14:35331250chr14:36988575ENST00000360310-3271_1281301557.0RegionNote=Required for association with the CHRAC1/POLE3 complex
HgeneBAZ1Achr14:35331250chr14:36988575ENST00000382422-2261_1281301557.0RegionNote=Required for association with the CHRAC1/POLE3 complex
TgeneNKX2-1chr14:35331250chr14:36988575ENST0000035482203234_24325402.0Compositional biasNote=Poly-Gly
TgeneNKX2-1chr14:35331250chr14:36988575ENST0000035482203246_25325402.0Compositional biasNote=Poly-Gln
TgeneNKX2-1chr14:35331250chr14:36988575ENST0000035482203294_30325402.0Compositional biasNote=Poly-Ala
TgeneNKX2-1chr14:35331250chr14:36988575ENST0000049818702234_2430372.0Compositional biasNote=Poly-Gly
TgeneNKX2-1chr14:35331250chr14:36988575ENST0000049818702246_2530372.0Compositional biasNote=Poly-Gln
TgeneNKX2-1chr14:35331250chr14:36988575ENST0000049818702294_3030372.0Compositional biasNote=Poly-Ala
TgeneNKX2-1chr14:35331250chr14:36988575ENST0000051814903234_2430372.0Compositional biasNote=Poly-Gly
TgeneNKX2-1chr14:35331250chr14:36988575ENST0000051814903246_2530372.0Compositional biasNote=Poly-Gln
TgeneNKX2-1chr14:35331250chr14:36988575ENST0000051814903294_3030372.0Compositional biasNote=Poly-Ala
TgeneNKX2-1chr14:35331250chr14:36988575ENST0000052271914234_2430372.0Compositional biasNote=Poly-Gly
TgeneNKX2-1chr14:35331250chr14:36988575ENST0000052271914246_2530372.0Compositional biasNote=Poly-Gln
TgeneNKX2-1chr14:35331250chr14:36988575ENST0000052271914294_3030372.0Compositional biasNote=Poly-Ala
TgeneNKX2-1chr14:35331250chr14:36988575ENST0000035482203161_22025402.0DNA bindingHomeobox
TgeneNKX2-1chr14:35331250chr14:36988575ENST0000049818702161_2200372.0DNA bindingHomeobox
TgeneNKX2-1chr14:35331250chr14:36988575ENST0000051814903161_2200372.0DNA bindingHomeobox
TgeneNKX2-1chr14:35331250chr14:36988575ENST0000052271914161_2200372.0DNA bindingHomeobox

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneBAZ1Achr14:35331250chr14:36988575ENST00000358716-326306_3971301525.0Coiled coilOntology_term=ECO:0000255
HgeneBAZ1Achr14:35331250chr14:36988575ENST00000358716-326634_7091301525.0Coiled coilOntology_term=ECO:0000255
HgeneBAZ1Achr14:35331250chr14:36988575ENST00000360310-327306_3971301557.0Coiled coilOntology_term=ECO:0000255
HgeneBAZ1Achr14:35331250chr14:36988575ENST00000360310-327634_7091301557.0Coiled coilOntology_term=ECO:0000255
HgeneBAZ1Achr14:35331250chr14:36988575ENST00000382422-226306_3971301557.0Coiled coilOntology_term=ECO:0000255
HgeneBAZ1Achr14:35331250chr14:36988575ENST00000382422-226634_7091301557.0Coiled coilOntology_term=ECO:0000255
HgeneBAZ1Achr14:35331250chr14:36988575ENST00000358716-3261239_12571301525.0Compositional biasNote=Glu-rich
HgeneBAZ1Achr14:35331250chr14:36988575ENST00000358716-326487_4911301525.0Compositional biasNote=Poly-Glu
HgeneBAZ1Achr14:35331250chr14:36988575ENST00000360310-3271239_12571301557.0Compositional biasNote=Glu-rich
HgeneBAZ1Achr14:35331250chr14:36988575ENST00000360310-327487_4911301557.0Compositional biasNote=Poly-Glu
HgeneBAZ1Achr14:35331250chr14:36988575ENST00000382422-2261239_12571301557.0Compositional biasNote=Glu-rich
HgeneBAZ1Achr14:35331250chr14:36988575ENST00000382422-226487_4911301557.0Compositional biasNote=Poly-Glu
HgeneBAZ1Achr14:35331250chr14:36988575ENST00000358716-3261446_15161301525.0DomainBromo
HgeneBAZ1Achr14:35331250chr14:36988575ENST00000358716-326422_4871301525.0DomainDDT
HgeneBAZ1Achr14:35331250chr14:36988575ENST00000360310-3271446_15161301557.0DomainBromo
HgeneBAZ1Achr14:35331250chr14:36988575ENST00000360310-327422_4871301557.0DomainDDT
HgeneBAZ1Achr14:35331250chr14:36988575ENST00000382422-2261446_15161301557.0DomainBromo
HgeneBAZ1Achr14:35331250chr14:36988575ENST00000382422-226422_4871301557.0DomainDDT
HgeneBAZ1Achr14:35331250chr14:36988575ENST00000358716-3261148_11981301525.0Zinc fingerPHD-type
HgeneBAZ1Achr14:35331250chr14:36988575ENST00000360310-3271148_11981301557.0Zinc fingerPHD-type
HgeneBAZ1Achr14:35331250chr14:36988575ENST00000382422-2261148_11981301557.0Zinc fingerPHD-type


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Fusion Gene Sequence for BAZ1A-NKX2-1


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.
>9015_9015_1_BAZ1A-NKX2-1_BAZ1A_chr14_35331250_ENST00000382422_NKX2-1_chr14_36988575_ENST00000354822_length(transcript)=2730nt_BP=720nt
CCCGCACTGCCCCCCGCGGCGGGGCGTCCTGCCCCATTGTGAGGCGGCGGCAGGACGAGAGGAGGTAGGGCGCGCTCGGGGGGCAGGGGC
GGCGGCGGCTCCGCTCGCTCGACACCCGGGCAGCGGCAGGAACGAACTCGGCTCCGGTAGCGGCCGCGGCGCGTCAGTCACACAAAAGGC
AGCCGAGCTTCTCCCAGCGCGCGGACCGGCCCACGCTGCCGCCGAGGGCTCCCCACCTTACCGGCTTTCCTTTCCCTCCAATTTTGATAG
GGAAGCGGGGCCGGCGCGGGCGGCCGAGGGTCCAGGCGAGCCCGCGGGCGGACGGGAGATGCCGCTGCTACACCGAAAGCCGTTTGTGAG
ACAGAAGCCGCCCGCGGACCTGCGGCCCGACGAGGAAGTTTTCTACTGTAAAGTCACCAACGAGATCTTCCGCCACTACGATGACTTTTT
TGAACGAACCATTCTGTGCAACAGCCTTGTGTGGAGTTGTGCTGTGACGGGTAGACCTGGACTGACGTATCAGGAAGCACTTGAGTCAGA
AAAAAAAGCAAGACAGAATCTTCAGAGTTTTCCAGAACCACTAATTATTCCAGTTTTATACTTGACCAGCCTTACCCATCGTTCGCGCTT
ACATGAAATTTGTGATGATATCTTTGCATATGTCAAGGATCGATATTTTGTCGAAGAAACTGTGGAAGTCATTAGGAACAATGGTGCAAG
CCGCCGCCGAATCATGTCGATGAGTCCAAAGCACACGACTCCGTTCTCAGTGTCTGACATCTTGAGTCCCCTGGAGGAAAGCTACAAGAA
AGTGGGCATGGAGGGCGGCGGCCTCGGGGCTCCGCTGGCGGCGTACAGGCAGGGCCAGGCGGCACCGCCAACAGCGGCCATGCAGCAGCA
CGCCGTGGGGCACCACGGCGCCGTCACCGCCGCCTACCACATGACGGCGGCGGGGGTGCCCCAGCTCTCGCACTCCGCCGTGGGGGGCTA
CTGCAACGGCAACCTGGGCAACATGAGCGAGCTGCCGCCGTACCAGGACACCATGAGGAACAGCGCCTCTGGCCCCGGATGGTACGGCGC
CAACCCAGACCCGCGCTTCCCCGCCATCTCCCGCTTCATGGGCCCGGCGAGCGGCATGAACATGAGCGGCATGGGCGGCCTGGGCTCGCT
GGGGGACGTGAGCAAGAACATGGCCCCGCTGCCAAGCGCGCCGCGCAGGAAGCGCCGGGTGCTCTTCTCGCAGGCGCAGGTGTACGAGCT
GGAGCGACGCTTCAAGCAACAGAAGTACCTGTCGGCGCCGGAGCGCGAGCACCTGGCCAGCATGATCCACCTGACGCCCACGCAGGTCAA
GATCTGGTTCCAGAACCACCGCTACAAAATGAAGCGCCAGGCCAAGGACAAGGCGGCGCAGCAGCAACTGCAGCAGGACAGCGGCGGCGG
CGGGGGCGGCGGGGGCACCGGGTGCCCGCAGCAGCAACAGGCTCAGCAGCAGTCGCCGCGACGCGTGGCGGTGCCGGTCCTGGTGAAAGA
CGGCAAACCGTGCCAGGCGGGTGCCCCCGCGCCGGGCGCCGCCAGCCTACAAGGCCACGCGCAGCAGCAGGCGCAGCACCAGGCGCAGGC
CGCGCAGGCGGCGGCAGCGGCCATCTCCGTGGGCAGCGGTGGCGCCGGCCTTGGCGCACACCCGGGCCACCAGCCAGGCAGCGCAGGCCA
GTCTCCGGACCTGGCGCACCACGCCGCCAGCCCCGCGGCGCTGCAGGGCCAGGTATCCAGCCTGTCCCACCTGAACTCCTCGGGCTCGGA
CTACGGCACCATGTCCTGCTCCACCTTGCTATACGGTCGGACCTGGTGAGAGGACGCCGGGCCGGCCCTAGCCCAGCGCTCTGCCTCACC
GCTTCCCTCCTGCCCGCCACACAGACCACCATCCACCGCTGCTCCACGCGCTTCGACTTTTCTTAACAACCTGGCCGCGTTTAGACCAAG
GAACAAAAAAACCACAAAGGCCAAACTGCTGGACGTCTTTCTTTTTTTCCCCCCCTAAAATTTGTGGGTTTTTTTTTTTAAAAAAAGAAA
ATGAAAAACAACCAAGCGCATCCAATCTCAAGGAATCTTTAAGCAGAGAAGGGCATAAAACAGCTTTGGGGTGTCTTTTTTTGGTGATTC
AAATGGGTTTTCCACGCTAGGGCGGGGCACAGATTGGAGAGGGCTCTGTGCTGACATGGCTCTGGACTCTAAAGACCAAACTTCACTCTG
GGCACACTCTGCCAGCAAAGAGGACTCGCTTGTAAATACCAGGATTTTTTTTTTTTTTTGAAGGGAGGACGGGAGCTGGGGAGAGGAAAG
AGTCTTCAACATAACCCACTTGTCACTGACACAAAGGAAGTGCCCCCTCCCCGGCACCCTCTGGCCGCCTAGGCTCAGCGGCGACCGCCC
TCCGCGAAAATAGTTTGTTTAATGTGAACTTGTAGCTGTAAAACGCTGTCAAAAGTTGGACTAAATGCCTAGTTTTTAGTAATCTGTACA
TTTTGTTGTAAAAAGAAAAACCACTCCCAGTCCCCAGCCCTTCACATTTTTTATGGGCATTGACAAATCTGTGTATATTATTTGGCAGTT
TGGTATTTGCGGCGTCAGTCTTTTTCTGTTGTAACTTATGTAGATATTTGGCTTAAATATAGTTCCTAAGAAGCTTCTAATAAATTATAC

>9015_9015_1_BAZ1A-NKX2-1_BAZ1A_chr14_35331250_ENST00000382422_NKX2-1_chr14_36988575_ENST00000354822_length(amino acids)=606AA_BP=230
MPHCEAAAGREEVGRARGAGAAAAPLARHPGSGRNELGSGSGRGASVTQKAAELLPARGPAHAAAEGSPPYRLSFPSNFDREAGPARAAE
GPGEPAGGREMPLLHRKPFVRQKPPADLRPDEEVFYCKVTNEIFRHYDDFFERTILCNSLVWSCAVTGRPGLTYQEALESEKKARQNLQS
FPEPLIIPVLYLTSLTHRSRLHEICDDIFAYVKDRYFVEETVEVIRNNGASRRRIMSMSPKHTTPFSVSDILSPLEESYKKVGMEGGGLG
APLAAYRQGQAAPPTAAMQQHAVGHHGAVTAAYHMTAAGVPQLSHSAVGGYCNGNLGNMSELPPYQDTMRNSASGPGWYGANPDPRFPAI
SRFMGPASGMNMSGMGGLGSLGDVSKNMAPLPSAPRRKRRVLFSQAQVYELERRFKQQKYLSAPEREHLASMIHLTPTQVKIWFQNHRYK
MKRQAKDKAAQQQLQQDSGGGGGGGGTGCPQQQQAQQQSPRRVAVPVLVKDGKPCQAGAPAPGAASLQGHAQQQAQHQAQAAQAAAAAIS

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Fusion Gene PPI Analysis for BAZ1A-NKX2-1


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
HgeneBAZ1Achr14:35331250chr14:36988575ENST00000358716-326667_933130.666666666666661525.0SMARCA5
HgeneBAZ1Achr14:35331250chr14:36988575ENST00000360310-327667_933130.666666666666661557.0SMARCA5
HgeneBAZ1Achr14:35331250chr14:36988575ENST00000382422-226667_933130.666666666666661557.0SMARCA5


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 BAZ1A-NKX2-1


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 BAZ1A-NKX2-1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0393584Benign Hereditary Chorea9CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC1970269Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress8CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC0019284Diaphragmatic Hernia2CTD_human
TgeneC1859098Chorea, Benign Familial2ORPHANET
TgeneC0010308Congenital Hypothyroidism1GENOMICS_ENGLAND
TgeneC0019569Hirschsprung Disease1GENOMICS_ENGLAND
TgeneC0024115Lung diseases1CTD_human
TgeneC0035220Respiratory Distress Syndrome, Newborn1GENOMICS_ENGLAND
TgeneC0238463Papillary thyroid carcinoma1CTD_human;ORPHANET
TgeneC0749420Thyroid Agenesis1ORPHANET
TgeneC3161105Neuroendocrine cell hyperplasia of infancy1GENOMICS_ENGLAND
TgeneC3806482Recurrent respiratory infections1GENOMICS_ENGLAND
TgeneC4721429THYROID CANCER, NONMEDULLARY, 11GENOMICS_ENGLAND;UNIPROT