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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: 17330

FusionGeneSummary for IKZF1_POLR2A

check button Fusion gene summary
Fusion gene informationFusion gene name: IKZF1_POLR2A
Fusion gene ID: 17330
HgeneTgene
Gene symbol

IKZF1

POLR2A

Gene ID

10320

5430

Gene nameIKAROS family zinc finger 1RNA polymerase II subunit A
SynonymsCVID13|Hs.54452|IK1|IKAROS|LYF1|LyF-1|PPP1R92|PRO0758|ZNFN1A1POLR2|POLRA|RPB1|RPBh1|RPO2|RPOL2|RpIILS|hRPB220|hsRPB1
Cytomap

7p12.2

17p13.1

Type of geneprotein-codingprotein-coding
DescriptionDNA-binding protein IkarosCLL-associated antigen KW-6ikaros family zinc finger protein 1lymphoid transcription factor LyF-1protein phosphatase 1, regulatory subunit 92zinc finger protein, subfamily 1A, 1 (Ikaros)DNA-directed RNA polymerase II subunit RPB1DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunitDNA-directed RNA polymerase II subunit ADNA-directed RNA polymerase III largest subunitRNA polymerase II subunit B1RNA-directed
Modification date2018052720180523
UniProtAcc

Q13422

P24928

Ensembl transtripts involved in fusion geneENST00000440768, ENST00000359197, 
ENST00000343574, ENST00000331340, 
ENST00000349824, ENST00000357364, 
ENST00000346667, ENST00000438033, 
ENST00000439701, ENST00000413698, 
ENST00000492782, 		ENST00000322644, 
ENST00000572844, 
Fusion gene scores* DoF score5 X 4 X 3=607 X 7 X 1=49
# samples 610
** MAII scorelog2(6/60*10)=0log2(10/49*10)=1.02914634565952
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: IKZF1 [Title/Abstract] AND POLR2A [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
TgenePOLR2A

GO:0006366

transcription by RNA polymerase II

9852112

TgenePOLR2A

GO:0033120

positive regulation of RNA splicing

21536736


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
ChiTaRS3.1BI061851IKZF1chr7

50424953

+POLR2Achr17

7404893

-
ChiTaRS3.1BI059477IKZF1chr7

50424953

+POLR2Achr17

7404893

-
* 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-3CDSENST00000440768ENST00000322644IKZF1chr7

50424953

+POLR2Achr17

7404893

-
intron-intronENST00000440768ENST00000572844IKZF1chr7

50424953

+POLR2Achr17

7404893

-
intron-3CDSENST00000359197ENST00000322644IKZF1chr7

50424953

+POLR2Achr17

7404893

-
intron-intronENST00000359197ENST00000572844IKZF1chr7

50424953

+POLR2Achr17

7404893

-
intron-3CDSENST00000343574ENST00000322644IKZF1chr7

50424953

+POLR2Achr17

7404893

-
intron-intronENST00000343574ENST00000572844IKZF1chr7

50424953

+POLR2Achr17

7404893

-
intron-3CDSENST00000331340ENST00000322644IKZF1chr7

50424953

+POLR2Achr17

7404893

-
intron-intronENST00000331340ENST00000572844IKZF1chr7

50424953

+POLR2Achr17

7404893

-
intron-3CDSENST00000349824ENST00000322644IKZF1chr7

50424953

+POLR2Achr17

7404893

-
intron-intronENST00000349824ENST00000572844IKZF1chr7

50424953

+POLR2Achr17

7404893

-
intron-3CDSENST00000357364ENST00000322644IKZF1chr7

50424953

+POLR2Achr17

7404893

-
intron-intronENST00000357364ENST00000572844IKZF1chr7

50424953

+POLR2Achr17

7404893

-
intron-3CDSENST00000346667ENST00000322644IKZF1chr7

50424953

+POLR2Achr17

7404893

-
intron-intronENST00000346667ENST00000572844IKZF1chr7

50424953

+POLR2Achr17

7404893

-
intron-3CDSENST00000438033ENST00000322644IKZF1chr7

50424953

+POLR2Achr17

7404893

-
intron-intronENST00000438033ENST00000572844IKZF1chr7

50424953

+POLR2Achr17

7404893

-
intron-3CDSENST00000439701ENST00000322644IKZF1chr7

50424953

+POLR2Achr17

7404893

-
intron-intronENST00000439701ENST00000572844IKZF1chr7

50424953

+POLR2Achr17

7404893

-
intron-3CDSENST00000413698ENST00000322644IKZF1chr7

50424953

+POLR2Achr17

7404893

-
intron-intronENST00000413698ENST00000572844IKZF1chr7

50424953

+POLR2Achr17

7404893

-
intron-3CDSENST00000492782ENST00000322644IKZF1chr7

50424953

+POLR2Achr17

7404893

-
intron-intronENST00000492782ENST00000572844IKZF1chr7

50424953

+POLR2Achr17

7404893

-

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FusionProtFeatures for IKZF1_POLR2A


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
IKZF1

Q13422

POLR2A

P24928

Transcription regulator of hematopoietic celldifferentiation (PubMed:17934067). Binds gamma-satellite DNA(PubMed:17135265, PubMed:19141594). Plays a role in thedevelopment of lymphocytes, B- and T-cells. Binds and activatesthe enhancer (delta-A element) of the CD3-delta gene. Repressor ofthe TDT (fikzfterminal deoxynucleotidyltransferase) gene duringthymocyte differentiation. Regulates transcription throughassociation with both HDAC-dependent and HDAC-independentcomplexes. Targets the 2 chromatin-remodeling complexes, NuRD andBAF (SWI/SNF), in a single complex (PYR complex), to the beta-globin locus in adult erythrocytes. Increases normal apoptosis inadult erythroid cells. Confers early temporal competence toretinal progenitor cells (RPCs) (By similarity). Function isisoform-specific and is modulated by dominant-negative inactiveisoforms (PubMed:17135265, PubMed:17934067).{ECO:0000250|UniProtKB:Q03267, ECO:0000269|PubMed:10204490,ECO:0000269|PubMed:17135265, ECO:0000269|PubMed:17934067,ECO:0000269|PubMed:19141594}. DNA-dependent RNA polymerase catalyzes the transcriptionof DNA into RNA using the four ribonucleoside triphosphates assubstrates. Largest and catalytic component of RNA polymerase IIwhich synthesizes mRNA precursors and many functional non-codingRNAs. Forms the polymerase active center together with the secondlargest subunit. Pol II is the central component of the basal RNApolymerase II transcription machinery. It is composed of mobileelements that move relative to each other. RPB1 is part of thecore element with the central large cleft, the clamp element thatmoves to open and close the cleft and the jaws that are thought tograb the incoming DNA template. At the start of transcription, asingle-stranded DNA template strand of the promoter is positionedwithin the central active site cleft of Pol II. A bridging helixemanates from RPB1 and crosses the cleft near the catalytic siteand is thought to promote translocation of Pol II by acting as aratchet that moves the RNA-DNA hybrid through the active site byswitching from straight to bent conformations at each step ofnucleotide addition. During transcription elongation, Pol II moveson the template as the transcript elongates. Elongation isinfluenced by the phosphorylation status of the C-terminal domain(CTD) of Pol II largest subunit (RPB1), which serves as a platformfor assembly of factors that regulate transcription initiation,elongation, termination and mRNA processing. Regulation of geneexpression levels depends on the balance between methylation andacetylation levels of tha CTD-lysines (By similarity). Initiationor early elongation steps of transcription of growth-factors-induced immediate early genes are regulated by the acetylationstatus of the CTD (PubMed:24207025). Methylation and dimethylationhave a repressive effect on target genes expression (Bysimilarity). {ECO:0000250|UniProtKB:P08775,ECO:0000269|PubMed:20231364, ECO:0000269|PubMed:23748380,ECO:0000269|PubMed:24207025, ECO:0000269|PubMed:9852112}. (Microbial infection) Acts as an RNA-dependent RNApolymerase when associated with small delta antigen of Hepatitisdelta virus, acting both as a replicate and transcriptase for theviral RNA circular genome. {ECO:0000269|PubMed:18032511}.

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 IKZF1_POLR2A


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 IKZF1_POLR2A


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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RelatedDrugs for IKZF1_POLR2A


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 IKZF1_POLR2A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneIKZF1C0009324Ulcerative Colitis1CTD_human
HgeneIKZF1C0023485Precursor B-Cell Lymphoblastic Leukemia-Lymphoma1CTD_human
HgeneIKZF1C0024141Lupus Erythematosus, Systemic1CTD_human
HgeneIKZF1C0024299Lymphoma1CTD_human
HgeneIKZF1C1961102Precursor Cell Lymphoblastic Leukemia Lymphoma1CTD_human
HgeneIKZF1C4225173IMMUNODEFICIENCY, COMMON VARIABLE, 131ORPHANET;UNIPROT