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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 IL2RG |
 Gene summary |
| Gene information | Gene symbol | IL2RG | Gene ID | 3561 |
| Gene name | interleukin 2 receptor subunit gamma | |
| Synonyms | CD132|CIDX|IL-2RG|IMD4|P64|SCIDX|SCIDX1 | |
| Cytomap | Xq13.1 | |
| Type of gene | protein-coding | |
| Description | cytokine receptor common subunit gammaCD132 antigenIL-2 receptor subunit gammaIL-2R subunit gammacommon cytokine receptor gamma chaingammaCinterleukin 2 receptor, gamma | |
| Modification date | 20180523 | |
| UniProtAcc | P31785 | |
| Context | PubMed: IL2RG [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 IL2RG 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 IL2RG |
| 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 IL2RG |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_515457 | X | 70328126:70328196:70328448:70328545:70329077:70329118 | 70328448:70328545 | ENSG00000147168.8 | ENST00000456850.2,ENST00000374202.2,ENST00000276110.2 |
| exon_skip_515465 | X | 70329077:70329240:70330005:70330145:70330353:70330538 | 70330005:70330145 | ENSG00000147168.8 | ENST00000464642.1,ENST00000374202.2 |
| exon_skip_515473 | X | 70330446:70330538:70330746:70330900:70331274:70331298 | 70330746:70330900 | ENSG00000147168.8 | ENST00000464642.1,ENST00000512747.1,ENST00000374202.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for IL2RG |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_515457 | X | 70328126:70328196:70328448:70328545:70329077:70329118 | 70328448:70328545 | ENSG00000147168.8 | ENST00000276110.2,ENST00000374202.2,ENST00000456850.2 |
| exon_skip_515465 | X | 70329077:70329240:70330005:70330145:70330353:70330538 | 70330005:70330145 | ENSG00000147168.8 | ENST00000374202.2,ENST00000464642.1 |
| exon_skip_515473 | X | 70330446:70330538:70330746:70330900:70331274:70331298 | 70330746:70330900 | ENSG00000147168.8 | ENST00000374202.2,ENST00000512747.1,ENST00000464642.1 |
| 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 IL2RG |
| 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 |
| ENST00000374202 | 70328448 | 70328545 | Frame-shift |
| ENST00000374202 | 70330005 | 70330145 | Frame-shift |
| ENST00000374202 | 70330746 | 70330900 | Frame-shift |
| 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 |
| ENST00000374202 | 70328448 | 70328545 | Frame-shift |
| ENST00000374202 | 70330005 | 70330145 | Frame-shift |
| ENST00000374202 | 70330746 | 70330900 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for IL2RG |
| 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 |
| 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 |
| 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 IL2RG |
| - 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_515457 | 70328449 | 70328545 | 70328500 | 70328500 | Frame_Shift_Del | C | - | p.G268fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_515473 | 70330747 | 70330900 | 70330775 | 70330775 | Frame_Shift_Del | G | - | p.Q81fs |
| COAD | TCGA-G4-6586-01 | exon_skip_515457 | 70328449 | 70328545 | 70328453 | 70328453 | Nonsense_Mutation | C | A | p.E284X |
| UCEC | TCGA-B5-A0JY-01 | exon_skip_515465 | 70330006 | 70330145 | 70330089 | 70330089 | Nonsense_Mutation | C | A | p.E171* |
| LUSC | TCGA-60-2710-01 | exon_skip_515457 | 70328449 | 70328545 | 70328447 | 70328447 | Splice_Site | A | C | p.R285_splice |
| - 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 |
| NCIH2141_LUNG | 70330006 | 70330145 | 70330023 | 70330023 | Missense_Mutation | A | T | p.W193R |
| RL952_ENDOMETRIUM | 70330006 | 70330145 | 70330121 | 70330121 | Missense_Mutation | A | G | p.L160P |
| HEC59_ENDOMETRIUM | 70328449 | 70328545 | 70328449 | 70328449 | Splice_Site | C | T | p.R285Q |
| GBM001_CENTRAL_NERVOUS_SYSTEM | 70330006 | 70330145 | 70330007 | 70330007 | Splice_Site | G | C | p.T198S |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for IL2RG |
| 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 IL2RG |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for IL2RG |
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RelatedDrugs for IL2RG |
| 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 |
| P31785 | DB00041 | Aldesleukin | Cytokine receptor common subunit gamma | biotech | approved | |
| P31785 | DB00004 | Denileukin diftitox | Cytokine receptor common subunit gamma | biotech | approved|investigational |
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RelatedDiseases for IL2RG |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| IL2RG | C1279481 | X-Linked Combined Immunodeficiency Diseases | 12 | CTD_human;ORPHANET;UNIPROT |
| IL2RG | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| IL2RG | C0036341 | Schizophrenia | 1 | PSYGENET |
| IL2RG | C0036920 | Sezary Syndrome | 1 | CTD_human |
| IL2RG | C0221765 | Chronic schizophrenia | 1 | PSYGENET |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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