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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: 42930

FusionGeneSummary for ZMIZ1_BTD

check button Fusion gene summary
Fusion gene informationFusion gene name: ZMIZ1_BTD
Fusion gene ID: 42930
HgeneTgene
Gene symbol

ZMIZ1

BTD

Gene ID

57178

686

Gene namezinc finger MIZ-type containing 1biotinidase
SynonymsMIZ|RAI17|TRAFIP10|ZIMP10-
Cytomap

10q22.3

3p25.1

Type of geneprotein-codingprotein-coding
Descriptionzinc finger MIZ domain-containing protein 1retinoic acid induced 17zinc finger-containing, Miz1, PIAS-like protein on chromosome 10biotinidasebiotinase
Modification date2018051920180523
UniProtAcc

Q9ULJ6

P43251

Ensembl transtripts involved in fusion geneENST00000334512, ENST00000478357, 
ENST00000446377, 
ENST00000449107, 
ENST00000303498, ENST00000437172, 
ENST00000383778, ENST00000482824, 
Fusion gene scores* DoF score14 X 8 X 8=8962 X 1 X 2=4
# samples 142
** MAII scorelog2(14/896*10)=-2.67807190511264
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/4*10)=2.32192809488736
Context

PubMed: ZMIZ1 [Title/Abstract] AND BTD [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
HgeneZMIZ1

GO:0045944

positive regulation of transcription by RNA polymerase II

26522984


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
TCGARVSKCMTCGA-ER-A3EV-06AZMIZ1chr10

80921890

+BTDchr3

15676931

+
* 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
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

+

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FusionProtFeatures for ZMIZ1_BTD


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ZMIZ1

Q9ULJ6

BTD

P43251

Acts as transcriptional coactivator. Increases ligand-dependent transcriptional activity of AR and promotes ARsumoylation. The stimulation of AR activity is dependent uponsumoylation (PubMed:14609956, PubMed:26522984). Involved intranscriptional activation of a subset of NOTCH1 target genesincluding MYC. Involved in thymocyte and T cell development (Bysimilarity). {ECO:0000250|UniProtKB:Q6P1E1,ECO:0000269|PubMed:14609956, ECO:0000269|PubMed:26522984}. Catalytic release of biotin from biocytin, the productof 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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FusionGeneSequence for ZMIZ1_BTD


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 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
ZMIZ1AR, TP53, PIAS3, CNTNAP2, SMAD3, SMAD4, SETD4, NANOG, MAML1, RBPJ, NOTCH1, TRIM28, SATB1, NFATC3, CTNNB1, ZEB1, CCR7, BRCA1, BCLAF1, TCF7, SIRT1, ETS1, TRIM25BTDUBC, SERPINC1, TAZ, FBXO6, TMEM25, PTPRK, GPHA2, CCND1, KIF21B, SIKE1, CDCA5, MYO1D, ERP44


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 ZMIZ1_BTD


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 ZMIZ1_BTD


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneZMIZ1C0007570Celiac Disease1CTD_human
HgeneZMIZ1C0009404Colorectal Neoplasms1CTD_human
TgeneBTDC0220754Biotinidase Deficiency2CTD_human;ORPHANET;UNIPROT
TgeneBTDC0004352Autistic Disorder1CTD_human
TgeneBTDC4277682Chemical and Drug Induced Liver Injury1CTD_human