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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for IKZF2 |
 Gene summary |
| Gene information | Gene symbol | IKZF2 | Gene ID | 22807 |
| Gene name | IKAROS family zinc finger 2 | |
| Synonyms | ANF1A2|HELIOS|ZNF1A2|ZNFN1A2 | |
| Cytomap | 2q34 | |
| Type of gene | protein-coding | |
| Description | zinc finger protein Heliosikaros family zinc finger protein 2zinc finger DNA binding protein Helioszinc finger protein, subfamily 1A, 2 (Helios) | |
| Modification date | 20200313 | |
| UniProtAcc | ||
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
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Gene structures and expression levels for IKZF2 |
| Skipped exons in the ROSMAP, MSBB, and Mayo based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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ENSG00000030419
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| CB | UP | ENST00000484040.1 | IKZF2-214:retained_intron:IKZF2 | 3.398670e+00 | 8.272022e-01 | 1.633881e-03 | 7.790856e-03 |
| CB | UP | ENST00000439848.5 | IKZF2-208:nonsense_mediated_decay:IKZF2 | 1.614700e+00 | 1.194102e+00 | 1.261722e-02 | 4.198991e-02 |
| TC | UP | ENST00000412444.5 | IKZF2-204:nonsense_mediated_decay:IKZF2 | 1.229337e+01 | 8.750832e-01 | 5.696861e-05 | 1.035318e-03 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for IKZF2 |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_102177 | chr2 | 213049713:213049880:213056566:213056744:213056833:213057099 | 213056566:213056744 |
| exon_skip_137002 | chr2 | 213148596:213148644:213150144:213150247:213151413:213151603 | 213150144:213150247 |
| exon_skip_197495 | chr2 | 213049850:213049880:213056566:213056744:213056833:213057099 | 213056566:213056744 |
| exon_skip_4087 | chr2 | 213013791:213013934:213021993:213022130:213049713:213049880 | 213021993:213022130 |
| exon_skip_43818 | chr2 | 212999691:213008084:213013791:213013934:213021993:213022130 | 213013791:213013934 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
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Open reading frame (ORF) annotation in the exon skipping event for IKZF2 |
| Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000434687 | 213150144 | 213150247 | 3UTR-3UTR |
| ENST00000434687 | 213013791 | 213013934 | In-frame |
| ENST00000434687 | 213021993 | 213022130 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000434687 | 213150144 | 213150247 | 3UTR-3UTR |
| ENST00000434687 | 213013791 | 213013934 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000434687 | 213150144 | 213150247 | 3UTR-3UTR |
| ENST00000434687 | 213013791 | 213013934 | In-frame |
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Infer the effects of exon skipping event on protein functional features for IKZF2 |
p-ENSG00000030419_img4.png |
| Loci of skipped exons in ROSMAP across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000434687 | 3905 | 526 | 213021993 | 213022130 | 885 | 1021 | 191 | 237 |
| ENST00000434687 | 3905 | 526 | 213013791 | 213013934 | 1023 | 1165 | 237 | 285 |
| Loci of skipped exons in MSBB across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000434687 | 3905 | 526 | 213013791 | 213013934 | 1023 | 1165 | 237 | 285 |
| Loci of skipped exons in Mayo across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000434687 | 3905 | 526 | 213013791 | 213013934 | 1023 | 1165 | 237 | 285 |
| Lost protein functional features of individual exon skipping events in ROSMAP. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Q9UKS7 | 191 | 237 | 46 | 341 | Alternative sequence | ID=VSP_055344;Note=In isoform 8. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.2 |
| Q9UKS7 | 191 | 237 | 53 | 526 | Alternative sequence | ID=VSP_055346;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.2 |
| Q9UKS7 | 191 | 237 | 149 | 526 | Alternative sequence | ID=VSP_055348;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.2 |
| Q9UKS7 | 191 | 237 | 192 | 237 | Alternative sequence | ID=VSP_055349;Note=In isoform 7. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.2 |
| Q9UKS7 | 191 | 237 | 1 | 526 | Chain | ID=PRO_0000047092;Note=Zinc finger protein Helios |
| Q9UKS7 | 191 | 237 | 196 | 219 | Zinc finger | Note=C2H2-type 4;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00042 |
| Q9UKS7 | 237 | 285 | 46 | 341 | Alternative sequence | ID=VSP_055344;Note=In isoform 8. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.2 |
| Q9UKS7 | 237 | 285 | 53 | 526 | Alternative sequence | ID=VSP_055346;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.2 |
| Q9UKS7 | 237 | 285 | 149 | 526 | Alternative sequence | ID=VSP_055348;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.2 |
| Q9UKS7 | 237 | 285 | 192 | 237 | Alternative sequence | ID=VSP_055349;Note=In isoform 7. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.2 |
| Q9UKS7 | 237 | 285 | 238 | 285 | Alternative sequence | ID=VSP_055350;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.2 |
| Q9UKS7 | 237 | 285 | 238 | 239 | Alternative sequence | ID=VSP_055351;Note=In isoform 6. VP->DS;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.2 |
| Q9UKS7 | 237 | 285 | 240 | 526 | Alternative sequence | ID=VSP_055352;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.2 |
| Q9UKS7 | 237 | 285 | 1 | 526 | Chain | ID=PRO_0000047092;Note=Zinc finger protein Helios |
| Lost protein functional features of individual exon skipping events in MSBB. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Q9UKS7 | 237 | 285 | 46 | 341 | Alternative sequence | ID=VSP_055344;Note=In isoform 8. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.2 |
| Q9UKS7 | 237 | 285 | 53 | 526 | Alternative sequence | ID=VSP_055346;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.2 |
| Q9UKS7 | 237 | 285 | 149 | 526 | Alternative sequence | ID=VSP_055348;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.2 |
| Q9UKS7 | 237 | 285 | 192 | 237 | Alternative sequence | ID=VSP_055349;Note=In isoform 7. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.2 |
| Q9UKS7 | 237 | 285 | 238 | 285 | Alternative sequence | ID=VSP_055350;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.2 |
| Q9UKS7 | 237 | 285 | 238 | 239 | Alternative sequence | ID=VSP_055351;Note=In isoform 6. VP->DS;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.2 |
| Q9UKS7 | 237 | 285 | 240 | 526 | Alternative sequence | ID=VSP_055352;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.2 |
| Q9UKS7 | 237 | 285 | 1 | 526 | Chain | ID=PRO_0000047092;Note=Zinc finger protein Helios |
| Lost protein functional features of individual exon skipping events in Mayo. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Q9UKS7 | 237 | 285 | 46 | 341 | Alternative sequence | ID=VSP_055344;Note=In isoform 8. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.2 |
| Q9UKS7 | 237 | 285 | 53 | 526 | Alternative sequence | ID=VSP_055346;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.2 |
| Q9UKS7 | 237 | 285 | 149 | 526 | Alternative sequence | ID=VSP_055348;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.2 |
| Q9UKS7 | 237 | 285 | 192 | 237 | Alternative sequence | ID=VSP_055349;Note=In isoform 7. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.2 |
| Q9UKS7 | 237 | 285 | 238 | 285 | Alternative sequence | ID=VSP_055350;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.2 |
| Q9UKS7 | 237 | 285 | 238 | 239 | Alternative sequence | ID=VSP_055351;Note=In isoform 6. VP->DS;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.2 |
| Q9UKS7 | 237 | 285 | 240 | 526 | Alternative sequence | ID=VSP_055352;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.2 |
| Q9UKS7 | 237 | 285 | 1 | 526 | Chain | ID=PRO_0000047092;Note=Zinc finger protein Helios |
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3'-UTR located exon skipping events that lost miRNA binding sites in IKZF2 |
| 3'-UTR exon skipping evnets lost miRNA binding. |
| Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
| Mayo | ENST00000434687 | 213150144 | 213150247 | hsa-miR-6734-5p | chr2:213150219-213150226 | 8mer-1a | chr2:213150202-213150226 | 163.00 | -29.01 |
| Mayo | ENST00000434687 | 213150144 | 213150247 | hsa-miR-6738-5p | chr2:213150218-213150225 | 8mer-1a | chr2:213150201-213150225 | 167.00 | -26.85 |
| Mayo | ENST00000434687 | 213150144 | 213150247 | hsa-miR-5093 | chr2:213150181-213150188 | 8mer-1a | chr2:213150177-213150193 | 145.00 | -16.87 |
| Mayo | ENST00000434687 | 213150144 | 213150247 | hsa-miR-1914-3p | chr2:213150218-213150225 | 8mer-1a | chr2:213150201-213150225 | 167.00 | -26.85 |
| Mayo | ENST00000434687 | 213150144 | 213150247 | hsa-miR-1306-5p | chr2:213150230-213150237 | 8mer-1a | chr2:213150216-213150237 | 147.00 | -14.38 |
| Mayo | ENST00000434687 | 213150144 | 213150247 | hsa-miR-5194 | chr2:213150218-213150225 | 8mer-1a | chr2:213150201-213150225 | 167.00 | -26.85 |
| MSBB | ENST00000434687 | 213150144 | 213150247 | hsa-miR-6734-5p | chr2:213150219-213150226 | 8mer-1a | chr2:213150202-213150226 | 163.00 | -29.01 |
| MSBB | ENST00000434687 | 213150144 | 213150247 | hsa-miR-6738-5p | chr2:213150218-213150225 | 8mer-1a | chr2:213150201-213150225 | 167.00 | -26.85 |
| MSBB | ENST00000434687 | 213150144 | 213150247 | hsa-miR-5093 | chr2:213150181-213150188 | 8mer-1a | chr2:213150177-213150193 | 145.00 | -16.87 |
| MSBB | ENST00000434687 | 213150144 | 213150247 | hsa-miR-1914-3p | chr2:213150218-213150225 | 8mer-1a | chr2:213150201-213150225 | 167.00 | -26.85 |
| MSBB | ENST00000434687 | 213150144 | 213150247 | hsa-miR-1306-5p | chr2:213150230-213150237 | 8mer-1a | chr2:213150216-213150237 | 147.00 | -14.38 |
| MSBB | ENST00000434687 | 213150144 | 213150247 | hsa-miR-5194 | chr2:213150218-213150225 | 8mer-1a | chr2:213150201-213150225 | 167.00 | -26.85 |
| ROSMAP | ENST00000434687 | 213150144 | 213150247 | hsa-miR-6734-5p | chr2:213150219-213150226 | 8mer-1a | chr2:213150202-213150226 | 163.00 | -29.01 |
| ROSMAP | ENST00000434687 | 213150144 | 213150247 | hsa-miR-6738-5p | chr2:213150218-213150225 | 8mer-1a | chr2:213150201-213150225 | 167.00 | -26.85 |
| ROSMAP | ENST00000434687 | 213150144 | 213150247 | hsa-miR-5093 | chr2:213150181-213150188 | 8mer-1a | chr2:213150177-213150193 | 145.00 | -16.87 |
| ROSMAP | ENST00000434687 | 213150144 | 213150247 | hsa-miR-1914-3p | chr2:213150218-213150225 | 8mer-1a | chr2:213150201-213150225 | 167.00 | -26.85 |
| ROSMAP | ENST00000434687 | 213150144 | 213150247 | hsa-miR-1306-5p | chr2:213150230-213150237 | 8mer-1a | chr2:213150216-213150237 | 147.00 | -14.38 |
| ROSMAP | ENST00000434687 | 213150144 | 213150247 | hsa-miR-5194 | chr2:213150218-213150225 | 8mer-1a | chr2:213150201-213150225 | 167.00 | -26.85 |
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SNVs in the skipped exons for IKZF2 |
| - Differential PSIs between mutated versus non-mutated samples. |
| - Depth of Coverage in the skipped exon of the mutated samples. |
| - Sashimi plot in the skipped exon of the mutated samples. |
| - Non-synonymous mutations located in the skipped exons. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| - Non-synonymous mutations located in the skipped exons in CCLE. |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
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AD stage-associated exon skippint events for IKZF2 |
| Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
| AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for IKZF2 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for IKZF2 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for IKZF2 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for IKZF2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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