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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:CIZ1-SLC16A3 (FusionGDB2 ID:HG25792TG9123)

Fusion Gene Summary for CIZ1-SLC16A3

check button Fusion gene summary
Fusion gene informationFusion gene name: CIZ1-SLC16A3
Fusion gene ID: hg25792tg9123
HgeneTgene
Gene symbol

CIZ1

SLC16A3

Gene ID

25792

9123

Gene nameCDKN1A interacting zinc finger protein 1solute carrier family 16 member 3
SynonymsLSFR1|NP94|ZNF356MCT 3|MCT 4|MCT-3|MCT-4|MCT3|MCT4
Cytomap('CIZ1')('SLC16A3')

9q34.11

17q25.3

Type of geneprotein-codingprotein-coding
Descriptioncip1-interacting zinc finger proteinnuclear protein NP94zinc finger protein 356monocarboxylate transporter 4monocarboxylate transporter 3solute carrier family 16 (monocarboxylate transporter), member 3solute carrier family 16 (monocarboxylic acid transporters), member 3solute carrier family 16, member 3 (monocarboxylic acid tran
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000277465, ENST00000325721, 
ENST00000357558, ENST00000372938, 
ENST00000372948, ENST00000372954, 
ENST00000393608, ENST00000538431, 
ENST00000541172, ENST00000476727, 
Fusion gene scores* DoF score8 X 7 X 2=1124 X 5 X 3=60
# samples 75
** MAII scorelog2(7/112*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/60*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CIZ1 [Title/Abstract] AND SLC16A3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCIZ1(130938630)-SLC16A3(80193859), # samples:2
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


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
ChimerDB4SARCTCGA-IE-A3OV-01ACIZ1chr9

130938630

-SLC16A3chr17

80193859

+


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Fusion Gene ORF analysis for CIZ1-SLC16A3

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-3UTRENST00000277465ENST00000584781CIZ1chr9

130938630

-SLC16A3chr17

80193859

+
5CDS-3UTRENST00000325721ENST00000584781CIZ1chr9

130938630

-SLC16A3chr17

80193859

+
5CDS-3UTRENST00000357558ENST00000584781CIZ1chr9

130938630

-SLC16A3chr17

80193859

+
5CDS-3UTRENST00000372938ENST00000584781CIZ1chr9

130938630

-SLC16A3chr17

80193859

+
5CDS-3UTRENST00000372948ENST00000584781CIZ1chr9

130938630

-SLC16A3chr17

80193859

+
5CDS-3UTRENST00000372954ENST00000584781CIZ1chr9

130938630

-SLC16A3chr17

80193859

+
5CDS-3UTRENST00000393608ENST00000584781CIZ1chr9

130938630

-SLC16A3chr17

80193859

+
5CDS-3UTRENST00000538431ENST00000584781CIZ1chr9

130938630

-SLC16A3chr17

80193859

+
5CDS-3UTRENST00000541172ENST00000584781CIZ1chr9

130938630

-SLC16A3chr17

80193859

+
5CDS-5UTRENST00000277465ENST00000392339CIZ1chr9

130938630

-SLC16A3chr17

80193859

+
5CDS-5UTRENST00000277465ENST00000392341CIZ1chr9

130938630

-SLC16A3chr17

80193859

+
5CDS-5UTRENST00000277465ENST00000581287CIZ1chr9

130938630

-SLC16A3chr17

80193859

+
5CDS-5UTRENST00000277465ENST00000582743CIZ1chr9

130938630

-SLC16A3chr17

80193859

+
5CDS-5UTRENST00000325721ENST00000392339CIZ1chr9

130938630

-SLC16A3chr17

80193859

+
5CDS-5UTRENST00000325721ENST00000392341CIZ1chr9

130938630

-SLC16A3chr17

80193859

+
5CDS-5UTRENST00000325721ENST00000581287CIZ1chr9

130938630

-SLC16A3chr17

80193859

+
5CDS-5UTRENST00000325721ENST00000582743CIZ1chr9

130938630

-SLC16A3chr17

80193859

+
5CDS-5UTRENST00000357558ENST00000392339CIZ1chr9

130938630

-SLC16A3chr17

80193859

+
5CDS-5UTRENST00000357558ENST00000392341CIZ1chr9

130938630

-SLC16A3chr17

80193859

+
5CDS-5UTRENST00000357558ENST00000581287CIZ1chr9

130938630

-SLC16A3chr17

80193859

+
5CDS-5UTRENST00000357558ENST00000582743CIZ1chr9

130938630

-SLC16A3chr17

80193859

+
5CDS-5UTRENST00000372938ENST00000392339CIZ1chr9

130938630

-SLC16A3chr17

80193859

+
5CDS-5UTRENST00000372938ENST00000392341CIZ1chr9

130938630

-SLC16A3chr17

80193859

+
5CDS-5UTRENST00000372938ENST00000581287CIZ1chr9

130938630

-SLC16A3chr17

80193859

+
5CDS-5UTRENST00000372938ENST00000582743CIZ1chr9

130938630

-SLC16A3chr17

80193859

+
5CDS-5UTRENST00000372948ENST00000392339CIZ1chr9

130938630

-SLC16A3chr17

80193859

+
5CDS-5UTRENST00000372948ENST00000392341CIZ1chr9

130938630

-SLC16A3chr17

80193859

+
5CDS-5UTRENST00000372948ENST00000581287CIZ1chr9

130938630

-SLC16A3chr17

80193859

+
5CDS-5UTRENST00000372948ENST00000582743CIZ1chr9

130938630

-SLC16A3chr17

80193859

+
5CDS-5UTRENST00000372954ENST00000392339CIZ1chr9

130938630

-SLC16A3chr17

80193859

+
5CDS-5UTRENST00000372954ENST00000392341CIZ1chr9

130938630

-SLC16A3chr17

80193859

+
5CDS-5UTRENST00000372954ENST00000581287CIZ1chr9

130938630

-SLC16A3chr17

80193859

+
5CDS-5UTRENST00000372954ENST00000582743CIZ1chr9

130938630

-SLC16A3chr17

80193859

+
5CDS-5UTRENST00000393608ENST00000392339CIZ1chr9

130938630

-SLC16A3chr17

80193859

+
5CDS-5UTRENST00000393608ENST00000392341CIZ1chr9

130938630

-SLC16A3chr17

80193859

+
5CDS-5UTRENST00000393608ENST00000581287CIZ1chr9

130938630

-SLC16A3chr17

80193859

+
5CDS-5UTRENST00000393608ENST00000582743CIZ1chr9

130938630

-SLC16A3chr17

80193859

+
5CDS-5UTRENST00000538431ENST00000392339CIZ1chr9

130938630

-SLC16A3chr17

80193859

+
5CDS-5UTRENST00000538431ENST00000392341CIZ1chr9

130938630

-SLC16A3chr17

80193859

+
5CDS-5UTRENST00000538431ENST00000581287CIZ1chr9

130938630

-SLC16A3chr17

80193859

+
5CDS-5UTRENST00000538431ENST00000582743CIZ1chr9

130938630

-SLC16A3chr17

80193859

+
5CDS-5UTRENST00000541172ENST00000392339CIZ1chr9

130938630

-SLC16A3chr17

80193859

+
5CDS-5UTRENST00000541172ENST00000392341CIZ1chr9

130938630

-SLC16A3chr17

80193859

+
5CDS-5UTRENST00000541172ENST00000581287CIZ1chr9

130938630

-SLC16A3chr17

80193859

+
5CDS-5UTRENST00000541172ENST00000582743CIZ1chr9

130938630

-SLC16A3chr17

80193859

+
intron-3UTRENST00000476727ENST00000584781CIZ1chr9

130938630

-SLC16A3chr17

80193859

+
intron-5UTRENST00000476727ENST00000392339CIZ1chr9

130938630

-SLC16A3chr17

80193859

+
intron-5UTRENST00000476727ENST00000392341CIZ1chr9

130938630

-SLC16A3chr17

80193859

+
intron-5UTRENST00000476727ENST00000581287CIZ1chr9

130938630

-SLC16A3chr17

80193859

+
intron-5UTRENST00000476727ENST00000582743CIZ1chr9

130938630

-SLC16A3chr17

80193859

+

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 CIZ1-SLC16A3


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)
CIZ1chr9130938629-SLC16A3chr1780193858+0.000150980.99984896
CIZ1chr9130938629-SLC16A3chr1780193858+0.000150980.99984896


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.
genomic feature of top 1%

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Fusion Protein Features for CIZ1-SLC16A3


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/:130938630/:80193859)
- 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

- 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 CIZ1-SLC16A3


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 CIZ1-SLC16A3


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 CIZ1-SLC16A3


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 CIZ1-SLC16A3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCIZ1C0013421Dystonia1CTD_human
HgeneCIZ1C0033578Prostatic Neoplasms1CTD_human
HgeneCIZ1C0376358Malignant neoplasm of prostate1CTD_human
HgeneCIZ1C0393588Dystonia, Paroxysmal1CTD_human
HgeneCIZ1C0393610Dystonia, Diurnal1CTD_human
HgeneCIZ1C0553580Ewings sarcoma1CTD_human
HgeneCIZ1C0751093Dystonia, Limb1CTD_human
HgeneCIZ1C1865818DYSTONIA 7, TORSION (disorder)1CTD_human
HgeneCIZ1C1865819CERVICAL DYSTONIA, PRIMARY1CTD_human
HgeneCIZ1C3538999DYSTONIA 231GENOMICS_ENGLAND;ORPHANET
TgeneC0006142Malignant neoplasm of breast1CTD_human
TgeneC0024623Malignant neoplasm of stomach1CTD_human
TgeneC0038356Stomach Neoplasms1CTD_human
TgeneC0678222Breast Carcinoma1CTD_human
TgeneC1257931Mammary Neoplasms, Human1CTD_human
TgeneC1458155Mammary Neoplasms1CTD_human
TgeneC1708349Hereditary Diffuse Gastric Cancer1CTD_human
TgeneC4704874Mammary Carcinoma, Human1CTD_human