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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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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 | 20180523 | |
| UniProtAcc | Q9UKS7 | |
| Context | PubMed: IKZF2 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| 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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Exon skipping events across known transcript of Ensembl for IKZF2 from UCSC genome browser |
| Skipped exons in TCGA and GTEx 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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Gene isoform structures and expression levels for IKZF2 |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for IKZF2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_346396 | 2 | 213872083:213872808:213878514:213878658:213886716:213886854 | 213878514:213878658 | ENSG00000030419.12 | ENST00000434687.1,ENST00000374326.3,ENST00000342002.2,ENST00000453575.1,ENST00000374319.4,ENST00000412444.1,ENST00000457361.1,ENST00000374327.4,ENST00000439848.1 |
| exon_skip_346400 | 2 | 213878514:213878658:213886367:213886444:213886716:213886854 | 213886367:213886444 | ENSG00000030419.12 | ENST00000413091.3 |
| exon_skip_346406 | 2 | 213914573:213914604:213921289:213921468:213921556:213921823 | 213921289:213921468 | ENSG00000030419.12 | ENST00000439848.1 |
| exon_skip_346409 | 2 | 213914573:213914604:213921556:213921823:214012431:214012536 | 213921556:213921823 | ENSG00000030419.12 | ENST00000434687.1,ENST00000431520.1,ENST00000342002.2,ENST00000413091.3,ENST00000457361.1 |
| exon_skip_346411 | 2 | 213914573:213914604:213921634:213921823:214012431:214012536 | 213921634:213921823 | ENSG00000030419.12 | ENST00000374319.4,ENST00000421754.2,ENST00000451136.2,ENST00000433134.1 |
| exon_skip_346414 | 2 | 213921712:213921823:213962600:213962684:214012431:214012536 | 213962600:213962684 | ENSG00000030419.12 | ENST00000453575.1 |
| exon_skip_346415 | 2 | 214013319:214013368:214014867:214014971:214016136:214016327 | 214014867:214014971 | ENSG00000030419.12 | ENST00000434687.1,ENST00000374319.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for IKZF2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_346396 | 2 | 213872083:213872808:213878514:213878658:213886716:213886854 | 213878514:213878658 | ENSG00000030419.12 | ENST00000457361.1,ENST00000342002.2,ENST00000434687.1,ENST00000374319.4,ENST00000453575.1,ENST00000412444.1,ENST00000439848.1,ENST00000374326.3,ENST00000374327.4 |
| exon_skip_346400 | 2 | 213878514:213878658:213886367:213886444:213886716:213886854 | 213886367:213886444 | ENSG00000030419.12 | ENST00000413091.3 |
| exon_skip_346401 | 2 | 213878514:213878658:213886716:213886854:213914436:213914604 | 213886716:213886854 | ENSG00000030419.12 | ENST00000457361.1,ENST00000342002.2,ENST00000434687.1,ENST00000374319.4,ENST00000453575.1,ENST00000412444.1,ENST00000439848.1,ENST00000374326.3 |
| exon_skip_346406 | 2 | 213914573:213914604:213921289:213921468:213921556:213921823 | 213921289:213921468 | ENSG00000030419.12 | ENST00000439848.1 |
| exon_skip_346409 | 2 | 213914573:213914604:213921556:213921823:214012431:214012536 | 213921556:213921823 | ENSG00000030419.12 | ENST00000457361.1,ENST00000342002.2,ENST00000434687.1,ENST00000431520.1,ENST00000413091.3 |
| exon_skip_346410 | 2 | 213914436:213914604:213921634:213921823:213962600:213962684 | 213921634:213921823 | ENSG00000030419.12 | ENST00000453575.1 |
| exon_skip_346411 | 2 | 213914573:213914604:213921634:213921823:214012431:214012536 | 213921634:213921823 | ENSG00000030419.12 | ENST00000374319.4,ENST00000451136.2,ENST00000421754.2,ENST00000433134.1 |
| exon_skip_346414 | 2 | 213921712:213921823:213962600:213962684:214012431:214012536 | 213962600:213962684 | ENSG00000030419.12 | ENST00000453575.1 |
| exon_skip_346415 | 2 | 214013319:214013368:214014867:214014971:214016136:214016327 | 214014867:214014971 | ENSG00000030419.12 | ENST00000434687.1,ENST00000374319.4 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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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 TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000434687 | 214014867 | 214014971 | 3UTR-3UTR |
| ENST00000434687 | 213878514 | 213878658 | In-frame |
| ENST00000434687 | 213921556 | 213921823 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000434687 | 214014867 | 214014971 | 3UTR-3UTR |
| ENST00000434687 | 213878514 | 213878658 | In-frame |
| ENST00000434687 | 213886716 | 213886854 | In-frame |
| ENST00000434687 | 213921556 | 213921823 | In-frame |
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Infer the effects of exon skipping event on protein functional features for IKZF2 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA 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 | 213921556 | 213921823 | 450 | 716 | 46 | 135 |
| ENST00000434687 | 3905 | 526 | 213878514 | 213878658 | 1023 | 1166 | 237 | 285 |
| Loci of skipped exons in GTEx 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 | 213921556 | 213921823 | 450 | 716 | 46 | 135 |
| ENST00000434687 | 3905 | 526 | 213886716 | 213886854 | 885 | 1022 | 191 | 237 |
| ENST00000434687 | 3905 | 526 | 213878514 | 213878658 | 1023 | 1166 | 237 | 285 |
| Lost protein functional features of individual exon skipping events in TCGA. |
| 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 |
| Lost protein functional features of individual exon skipping events in GTEx. |
| 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 |
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SNVs in the skipped exons for IKZF2 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_346396 | 213878515 | 213878658 | 213878605 | 213878605 | Frame_Shift_Del | A | - | p.S256fs |
| LUAD | TCGA-86-8359-01 | exon_skip_346396 | 213878515 | 213878658 | 213878652 | 213878653 | Frame_Shift_Ins | - | GA | p.Y240fs |
| CESC | TCGA-HM-A4S6-01 | exon_skip_346409 | 213921557 | 213921823 | 213921756 | 213921757 | Frame_Shift_Ins | - | T | p.D69fs |
| CESC | TCGA-HM-A4S6-01 | exon_skip_346411 | 213921635 | 213921823 | 213921756 | 213921757 | Frame_Shift_Ins | - | T | p.D69fs |
| HNSC | TCGA-MT-A67F-01 | exon_skip_346409 | 213921557 | 213921823 | 213921665 | 213921665 | Nonsense_Mutation | G | A | p.Q100* |
| HNSC | TCGA-MT-A67F-01 | exon_skip_346411 | 213921635 | 213921823 | 213921665 | 213921665 | Nonsense_Mutation | G | A | p.Q100* |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - 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 |
| NCIH2126_LUNG | 213921635 | 213921823 | 213921777 | 213921777 | Frame_Shift_Del | C | - | p.R62fs |
| NCIH2126_LUNG | 213921557 | 213921823 | 213921777 | 213921777 | Frame_Shift_Del | C | - | p.R62fs |
| MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 213878515 | 213878658 | 213878545 | 213878545 | Missense_Mutation | G | A | p.R276C |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 213878515 | 213878658 | 213878562 | 213878562 | Missense_Mutation | G | A | p.T270M |
| NCIH2227_LUNG | 213878515 | 213878658 | 213878574 | 213878574 | Missense_Mutation | A | T | p.I266K |
| NCIH508_LARGE_INTESTINE | 213878515 | 213878658 | 213878629 | 213878629 | Missense_Mutation | C | G | p.E248Q |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 213921635 | 213921823 | 213921669 | 213921669 | Missense_Mutation | C | G | p.E98D |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 213921557 | 213921823 | 213921669 | 213921669 | Missense_Mutation | C | G | p.E98D |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 213921635 | 213921823 | 213921669 | 213921669 | Missense_Mutation | C | G | p.E98D |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 213921557 | 213921823 | 213921669 | 213921669 | Missense_Mutation | C | G | p.E98D |
| OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 213921635 | 213921823 | 213921669 | 213921669 | Missense_Mutation | C | G | p.E98D |
| OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 213921557 | 213921823 | 213921669 | 213921669 | Missense_Mutation | C | G | p.E98D |
| S117_SOFT_TISSUE | 213921635 | 213921823 | 213921669 | 213921669 | Missense_Mutation | C | G | p.E98D |
| S117_SOFT_TISSUE | 213921557 | 213921823 | 213921669 | 213921669 | Missense_Mutation | C | G | p.E98D |
| FARAGE_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 213921635 | 213921823 | 213921774 | 213921774 | Missense_Mutation | T | G | p.K63N |
| FARAGE_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 213921557 | 213921823 | 213921774 | 213921774 | Missense_Mutation | T | G | p.K63N |
| GMEL_SKIN | 213921635 | 213921823 | 213921786 | 213921786 | Missense_Mutation | C | A | p.E59D |
| GMEL_SKIN | 213921557 | 213921823 | 213921786 | 213921786 | Missense_Mutation | C | A | p.E59D |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for IKZF2 |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for IKZF2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for IKZF2 |
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RelatedDrugs for IKZF2 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | 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 |
| IKZF2 | C0023493 | Adult T-Cell Lymphoma/Leukemia | 1 | CTD_human |
| IKZF2 | C1961102 | Precursor Cell Lymphoblastic Leukemia Lymphoma | 1 | CTD_human |
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