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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 IL12RB2 |
 Gene summary |
| Gene information | Gene symbol | IL12RB2 | Gene ID | 3595 |
| Gene name | interleukin 12 receptor subunit beta 2 | |
| Synonyms | - | |
| Cytomap | 1p31.3 | |
| Type of gene | protein-coding | |
| Description | interleukin-12 receptor subunit beta-2IL-12 receptor subunit beta-2IL-12R subunit beta-2interleukin 12 receptor, beta 2interleukin-12 receptor beta-2 chain | |
| Modification date | 20180523 | |
| UniProtAcc | Q99665 | |
| Context | PubMed: IL12RB2 [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 |
| IL12RB2 | GO:0032729 | positive regulation of interferon-gamma production | 11114383 |
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Exon skipping events across known transcript of Ensembl for IL12RB2 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 IL12RB2 |
| 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 IL12RB2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_7169 | 1 | 67773636:67773650:67779595:67779683:67786015:67786127 | 67779595:67779683 | ENSG00000081985.6 | ENST00000541374.1 |
| exon_skip_7171 | 1 | 67773636:67773650:67786015:67786127:67787284:67787572 | 67786015:67786127 | ENSG00000081985.6 | ENST00000371000.1,ENST00000544434.1 |
| exon_skip_7176 | 1 | 67787284:67787572:67792417:67792532:67793882:67794067 | 67792417:67792532 | ENSG00000081985.6 | ENST00000541374.1,ENST00000371000.1,ENST00000262345.1,ENST00000544434.1 |
| exon_skip_7178 | 1 | 67793882:67794067:67795269:67795412:67796342:67796493 | 67795269:67795412 | ENSG00000081985.6 | ENST00000541374.1,ENST00000441640.1,ENST00000371000.1,ENST00000262345.1,ENST00000544434.1 |
| exon_skip_7182 | 1 | 67838118:67838217:67838307:67838466:67845668:67845806 | 67838307:67838466 | ENSG00000081985.6 | ENST00000541374.1,ENST00000371000.1,ENST00000262345.1 |
| exon_skip_7184 | 1 | 67838307:67838466:67845668:67845806:67852261:67852352 | 67845668:67845806 | ENSG00000081985.6 | ENST00000541374.1,ENST00000371000.1,ENST00000262345.1 |
| exon_skip_7187 | 1 | 67845668:67845806:67852261:67852352:67855711:67855811 | 67852261:67852352 | ENSG00000081985.6 | ENST00000465396.1,ENST00000262345.1,ENST00000544434.1 |
| exon_skip_7188 | 1 | 67845668:67845806:67852261:67852352:67861229:67861446 | 67852261:67852352 | ENSG00000081985.6 | ENST00000541374.1,ENST00000371000.1 |
| exon_skip_7190 | 1 | 67852261:67852352:67855711:67855811:67861229:67861446 | 67855711:67855811 | ENSG00000081985.6 | ENST00000465396.1,ENST00000262345.1,ENST00000544434.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for IL12RB2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_7169 | 1 | 67773636:67773650:67779595:67779683:67786015:67786127 | 67779595:67779683 | ENSG00000081985.6 | ENST00000541374.1 |
| exon_skip_7171 | 1 | 67773636:67773650:67786015:67786127:67787284:67787572 | 67786015:67786127 | ENSG00000081985.6 | ENST00000371000.1,ENST00000544434.1 |
| exon_skip_7176 | 1 | 67787284:67787572:67792417:67792532:67793882:67794067 | 67792417:67792532 | ENSG00000081985.6 | ENST00000262345.1,ENST00000371000.1,ENST00000541374.1,ENST00000544434.1 |
| exon_skip_7178 | 1 | 67793882:67794067:67795269:67795412:67796342:67796493 | 67795269:67795412 | ENSG00000081985.6 | ENST00000262345.1,ENST00000371000.1,ENST00000541374.1,ENST00000544434.1,ENST00000441640.1 |
| exon_skip_7182 | 1 | 67838118:67838217:67838307:67838466:67845668:67845806 | 67838307:67838466 | ENSG00000081985.6 | ENST00000262345.1,ENST00000371000.1,ENST00000541374.1 |
| exon_skip_7184 | 1 | 67838307:67838466:67845668:67845806:67852261:67852352 | 67845668:67845806 | ENSG00000081985.6 | ENST00000262345.1,ENST00000371000.1,ENST00000541374.1 |
| exon_skip_7187 | 1 | 67845668:67845806:67852261:67852352:67855711:67855811 | 67852261:67852352 | ENSG00000081985.6 | ENST00000262345.1,ENST00000544434.1,ENST00000465396.1 |
| exon_skip_7188 | 1 | 67845668:67845806:67852261:67852352:67861229:67861446 | 67852261:67852352 | ENSG00000081985.6 | ENST00000371000.1,ENST00000541374.1 |
| exon_skip_7190 | 1 | 67852261:67852352:67855711:67855811:67861229:67861446 | 67855711:67855811 | ENSG00000081985.6 | ENST00000262345.1,ENST00000544434.1,ENST00000465396.1 |
| 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 IL12RB2 |
| 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 |
| ENST00000262345 | 67792417 | 67792532 | Frame-shift |
| ENST00000262345 | 67795269 | 67795412 | Frame-shift |
| ENST00000262345 | 67852261 | 67852352 | Frame-shift |
| ENST00000262345 | 67855711 | 67855811 | Frame-shift |
| ENST00000262345 | 67838307 | 67838466 | In-frame |
| ENST00000262345 | 67845668 | 67845806 | 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 |
| ENST00000262345 | 67792417 | 67792532 | Frame-shift |
| ENST00000262345 | 67795269 | 67795412 | Frame-shift |
| ENST00000262345 | 67852261 | 67852352 | Frame-shift |
| ENST00000262345 | 67855711 | 67855811 | Frame-shift |
| ENST00000262345 | 67838307 | 67838466 | In-frame |
| ENST00000262345 | 67845668 | 67845806 | In-frame |
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Infer the effects of exon skipping event on protein functional features for IL12RB2 |
| 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 |
| ENST00000262345 | 4057 | 862 | 67838307 | 67838466 | 2199 | 2357 | 519 | 572 |
| ENST00000262345 | 4057 | 862 | 67845668 | 67845806 | 2358 | 2495 | 572 | 618 |
| 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 |
| ENST00000262345 | 4057 | 862 | 67838307 | 67838466 | 2199 | 2357 | 519 | 572 |
| ENST00000262345 | 4057 | 862 | 67845668 | 67845806 | 2358 | 2495 | 572 | 618 |
| 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 |
| Q99665 | 519 | 572 | 487 | 572 | Alternative sequence | ID=VSP_044784;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q99665 | 519 | 572 | 24 | 862 | Chain | ID=PRO_0000010920;Note=Interleukin-12 receptor subunit beta-2 |
| Q99665 | 519 | 572 | 423 | 520 | Domain | Note=Fibronectin type-III 4;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316 |
| Q99665 | 519 | 572 | 521 | 620 | Domain | Note=Fibronectin type-III 5;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316 |
| Q99665 | 519 | 572 | 24 | 622 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q99665 | 572 | 618 | 487 | 572 | Alternative sequence | ID=VSP_044784;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q99665 | 572 | 618 | 24 | 862 | Chain | ID=PRO_0000010920;Note=Interleukin-12 receptor subunit beta-2 |
| Q99665 | 572 | 618 | 521 | 620 | Domain | Note=Fibronectin type-III 5;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316 |
| Q99665 | 572 | 618 | 24 | 622 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| Q99665 | 519 | 572 | 487 | 572 | Alternative sequence | ID=VSP_044784;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q99665 | 519 | 572 | 24 | 862 | Chain | ID=PRO_0000010920;Note=Interleukin-12 receptor subunit beta-2 |
| Q99665 | 519 | 572 | 423 | 520 | Domain | Note=Fibronectin type-III 4;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316 |
| Q99665 | 519 | 572 | 521 | 620 | Domain | Note=Fibronectin type-III 5;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316 |
| Q99665 | 519 | 572 | 24 | 622 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q99665 | 572 | 618 | 487 | 572 | Alternative sequence | ID=VSP_044784;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q99665 | 572 | 618 | 24 | 862 | Chain | ID=PRO_0000010920;Note=Interleukin-12 receptor subunit beta-2 |
| Q99665 | 572 | 618 | 521 | 620 | Domain | Note=Fibronectin type-III 5;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316 |
| Q99665 | 572 | 618 | 24 | 622 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for IL12RB2 |
| - 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-A39Y-01 | exon_skip_7171 | 67786016 | 67786127 | 67786063 | 67786063 | Frame_Shift_Del | T | - | p.T4fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_7171 | 67786016 | 67786127 | 67786063 | 67786063 | Frame_Shift_Del | T | - | p.T4fs |
| KIRC | TCGA-BP-5170-01 | exon_skip_7184 | 67845669 | 67845806 | 67845752 | 67845761 | Frame_Shift_Del | CTGACAGCTG | - | p.600_603del |
| KIRC | TCGA-BP-5170-01 | exon_skip_7184 | 67845669 | 67845806 | 67845752 | 67845761 | Frame_Shift_Del | CTGACAGCTG | - | p.LTAA601fs |
| ESCA | TCGA-LN-A49K-01 | exon_skip_7190 | 67855712 | 67855811 | 67855810 | 67855810 | Frame_Shift_Del | A | - | p.E682fs |
| HNSC | TCGA-D6-A6EO-01 | exon_skip_7176 | 67792418 | 67792532 | 67792498 | 67792498 | Nonsense_Mutation | C | T | p.R149* |
| BLCA | TCGA-ZF-AA4V-01 | exon_skip_7178 | 67795270 | 67795412 | 67795343 | 67795343 | Nonsense_Mutation | G | A | p.W246* |
| HNSC | TCGA-P3-A6T6-01 | exon_skip_7190 | 67855712 | 67855811 | 67855743 | 67855743 | Nonsense_Mutation | C | T | p.Q660* |
| STAD | TCGA-CD-A4MG-01 | exon_skip_7178 | 67795270 | 67795412 | 67795414 | 67795414 | Splice_Site | T | C | p.M269_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 |
| SW48_LARGE_INTESTINE | 67845669 | 67845806 | 67845690 | 67845690 | Frame_Shift_Del | A | - | p.Q580fs |
| SISO_CERVIX | 67792418 | 67792532 | 67792457 | 67792458 | Frame_Shift_Ins | - | G | p.KG135fs |
| GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 67792418 | 67792532 | 67792457 | 67792458 | Frame_Shift_Ins | - | G | p.KG135fs |
| HEC50B_ENDOMETRIUM | 67855712 | 67855811 | 67855722 | 67855724 | In_Frame_Del | CTC | - | p.L654del |
| 8305C_THYROID | 67855712 | 67855811 | 67855722 | 67855724 | In_Frame_Del | CTC | - | p.L654del |
| SMSCTR_SOFT_TISSUE | 67786016 | 67786127 | 67786089 | 67786089 | Missense_Mutation | T | C | p.M13T |
| ASH3_THYROID | 67792418 | 67792532 | 67792460 | 67792460 | Missense_Mutation | G | C | p.G136A |
| HOP92_LUNG | 67795270 | 67795412 | 67795274 | 67795274 | Missense_Mutation | G | C | p.R223S |
| NCIH1573_LUNG | 67795270 | 67795412 | 67795362 | 67795362 | Missense_Mutation | C | A | p.L253M |
| NCIH510_LUNG | 67795270 | 67795412 | 67795372 | 67795372 | Missense_Mutation | G | T | p.R256L |
| DBTRG05MG_CENTRAL_NERVOUS_SYSTEM | 67845669 | 67845806 | 67845779 | 67845779 | Missense_Mutation | G | A | p.G610R |
| KP2_PANCREAS | 67855712 | 67855811 | 67855759 | 67855759 | Missense_Mutation | A | T | p.E665V |
| HCT15_LARGE_INTESTINE | 67845669 | 67845806 | 67845806 | 67845806 | Splice_Site | G | T | p.G619C |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for IL12RB2 |
| 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 IL12RB2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for IL12RB2 |
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RelatedDrugs for IL12RB2 |
| 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 IL12RB2 |
| 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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