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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:ZMIZ1-BTD (FusionGDB2 ID:100605)

Fusion Gene Summary for ZMIZ1-BTD

check button Fusion gene summary
Fusion gene informationFusion gene name: ZMIZ1-BTD
Fusion gene ID: 100605
HgeneTgene
Gene symbol

ZMIZ1

BTD

Gene ID

57178

221833

Gene namezinc finger MIZ-type containing 1Sp8 transcription factor
SynonymsMIZ|NEDDFSA|RAI17|TRAFIP10|ZIMP10BTD
Cytomap

10q22.3

7p21.1

Type of geneprotein-codingprotein-coding
Descriptionzinc finger MIZ domain-containing protein 1retinoic acid induced 17zinc finger-containing, Miz1, PIAS-like protein on chromosome 10transcription factor Sp8specificity protein 8
Modification date2020031520200313
UniProtAcc.

P43251

Ensembl transtripts involved in fusion geneENST00000334512, ENST00000478357, 
ENST00000446377, 		ENST00000449107, 
ENST00000303498, ENST00000437172, 
ENST00000383778, ENST00000482824, 
Fusion gene scores* DoF score20 X 11 X 11=24206 X 4 X 3=72
# samples 256
** MAII scorelog2(25/2420*10)=-3.27500704749987
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(6/72*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ZMIZ1 [Title/Abstract] AND BTD [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointZMIZ1(80921890)-BTD(15676931), # samples:3
Anticipated loss of major functional domain due to fusion event.
* 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
HgeneZMIZ1

GO:0007179

transforming growth factor beta receptor signaling pathway

16777850

HgeneZMIZ1

GO:0030521

androgen receptor signaling pathway

14609956

HgeneZMIZ1

GO:0033233

regulation of protein sumoylation

14609956

HgeneZMIZ1

GO:0045944

positive regulation of transcription by RNA polymerase II

26522984

HgeneZMIZ1

GO:0060395

SMAD protein signal transduction

16777850

HgeneZMIZ1

GO:1903508

positive regulation of nucleic acid-templated transcription

14609956|16777850


check buttonFusion gene breakpoints across ZMIZ1 (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 BTD (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
ChimerDB4SKCMTCGA-ER-A3EV-06AZMIZ1chr10

80921890

+BTDchr3

15676931

+
ChimerDB4SKCMTCGA-ER-A3EV-06AZMIZ1chr10

80921890

+BTDchr3

15676931

+
ChimerDB4SKCMTCGA-ER-A3EV-06AZMIZ1chr10

80921890

-BTDchr3

15676931

+


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Fusion Gene ORF analysis for ZMIZ1-BTD

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
5UTR-3CDSENST00000334512ENST00000449107ZMIZ1chr10

80921890

+BTDchr3

15676931

+
5UTR-3CDSENST00000334512ENST00000303498ZMIZ1chr10

80921890

+BTDchr3

15676931

+
5UTR-3CDSENST00000334512ENST00000437172ZMIZ1chr10

80921890

+BTDchr3

15676931

+
5UTR-5UTRENST00000334512ENST00000383778ZMIZ1chr10

80921890

+BTDchr3

15676931

+
5UTR-3UTRENST00000334512ENST00000482824ZMIZ1chr10

80921890

+BTDchr3

15676931

+
intron-3CDSENST00000478357ENST00000449107ZMIZ1chr10

80921890

+BTDchr3

15676931

+
intron-3CDSENST00000478357ENST00000303498ZMIZ1chr10

80921890

+BTDchr3

15676931

+
intron-3CDSENST00000478357ENST00000437172ZMIZ1chr10

80921890

+BTDchr3

15676931

+
intron-5UTRENST00000478357ENST00000383778ZMIZ1chr10

80921890

+BTDchr3

15676931

+
intron-3UTRENST00000478357ENST00000482824ZMIZ1chr10

80921890

+BTDchr3

15676931

+
intron-3CDSENST00000446377ENST00000449107ZMIZ1chr10

80921890

+BTDchr3

15676931

+
intron-3CDSENST00000446377ENST00000303498ZMIZ1chr10

80921890

+BTDchr3

15676931

+
intron-3CDSENST00000446377ENST00000437172ZMIZ1chr10

80921890

+BTDchr3

15676931

+
intron-5UTRENST00000446377ENST00000383778ZMIZ1chr10

80921890

+BTDchr3

15676931

+
intron-3UTRENST00000446377ENST00000482824ZMIZ1chr10

80921890

+BTDchr3

15676931

+

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 ZMIZ1-BTD


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)
ZMIZ1chr1080921890+BTDchr315676930+0.0006483870.99935156
ZMIZ1chr1080921890+BTDchr315676930+0.0006483870.99935156

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 ZMIZ1-BTD


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
.BTD

P43251

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.FUNCTION: Catalytic release of biotin from biocytin, the product of biotin-dependent carboxylases degradation.

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 ZMIZ1-BTD


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 ZMIZ1-BTD


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 ZMIZ1-BTD


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 ZMIZ1-BTD


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneZMIZ1C0025958Microcephaly2GENOMICS_ENGLAND
HgeneZMIZ1C0232466Feeding difficulties2GENOMICS_ENGLAND
HgeneZMIZ1C0243050Cardiovascular Abnormalities2GENOMICS_ENGLAND
HgeneZMIZ1C0262361Growth abnormality2GENOMICS_ENGLAND
HgeneZMIZ1C0557874Global developmental delay2GENOMICS_ENGLAND
HgeneZMIZ1C3714756Intellectual Disability2GENOMICS_ENGLAND
HgeneZMIZ1C4021790Abnormality of the skeletal system2GENOMICS_ENGLAND
HgeneZMIZ1C4021817Abnormality of head or neck2GENOMICS_ENGLAND
HgeneZMIZ1C4021821Abnormality of the urinary system2GENOMICS_ENGLAND
HgeneZMIZ1C0007570Celiac Disease1CTD_human
HgeneZMIZ1C0009402Colorectal Carcinoma1CTD_human
HgeneZMIZ1C0009404Colorectal Neoplasms1CTD_human
HgeneZMIZ1C0036572Seizures1GENOMICS_ENGLAND
TgeneBTDC0220754Biotinidase Deficiency13CLINGEN;CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneBTDC0004352Autistic Disorder1CTD_human
TgeneBTDC0019193Hepatitis, Toxic1CTD_human
TgeneBTDC0860207Drug-Induced Liver Disease1CTD_human
TgeneBTDC1262760Hepatitis, Drug-Induced1CTD_human
TgeneBTDC3658290Drug-Induced Acute Liver Injury1CTD_human
TgeneBTDC4277682Chemical and Drug Induced Liver Injury1CTD_human
TgeneBTDC4279912Chemically-Induced Liver Toxicity1CTD_human