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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 GTF2IRD2B |
 Gene summary |
| Gene information | Gene symbol | GTF2IRD2B | Gene ID | 389524 |
| Gene name | GTF2I repeat domain containing 2B | |
| Synonyms | - | |
| Cytomap | 7q11.23 | |
| Type of gene | protein-coding | |
| Description | general transcription factor II-I repeat domain-containing protein 2BGTF2I repeat domain-containing protein 2BGTF2IRD2 betageneral transcription factor 2 I repeat domain-containing 2 betatranscription factor GTF2IRD2-beta | |
| Modification date | 20180522 | |
| UniProtAcc | Q6EKJ0 | |
| Context | PubMed: GTF2IRD2B [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 GTF2IRD2B 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 GTF2IRD2B |
| 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 GTF2IRD2B |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_467264 | 7 | 74508402:74508556:74524751:74524855:74528190:74528329 | 74524751:74524855 | ENSG00000174428.12 | ENST00000398546.3,ENST00000430511.2,ENST00000423666.1,ENST00000312575.7,ENST00000483059.1,ENST00000356115.5 |
| exon_skip_467265 | 7 | 74524751:74524855:74528190:74528329:74536691:74536811 | 74528190:74528329 | ENSG00000174428.12 | ENST00000398546.3,ENST00000430511.2,ENST00000423666.1,ENST00000312575.7,ENST00000356115.5 |
| exon_skip_467266 | 7 | 74528190:74528329:74536691:74536811:74538936:74538990 | 74536691:74536811 | ENSG00000174428.12 | ENST00000398546.3,ENST00000430511.2,ENST00000423666.1,ENST00000312575.7,ENST00000356115.5 |
| exon_skip_467273 | 7 | 74538936:74539120:74539288:74539317:74541716:74541771 | 74539288:74539317 | ENSG00000174428.12 | ENST00000430511.2,ENST00000423666.1,ENST00000312575.7,ENST00000356115.5 |
| exon_skip_467274 | 7 | 74541716:74541771:74542142:74542186:74548942:74549020 | 74542142:74542186 | ENSG00000174428.12 | ENST00000472837.1,ENST00000312575.7,ENST00000356115.5 |
| exon_skip_467275 | 7 | 74542142:74542186:74548942:74549020:74550810:74550867 | 74548942:74549020 | ENSG00000174428.12 | ENST00000472837.1,ENST00000312575.7,ENST00000356115.5 |
| exon_skip_467277 | 7 | 74548962:74549020:74550810:74550867:74552591:74552657 | 74550810:74550867 | ENSG00000174428.12 | ENST00000394939.3,ENST00000430511.2,ENST00000423666.1,ENST00000472837.1,ENST00000312575.7,ENST00000356115.5 |
| exon_skip_467282 | 7 | 74550810:74550867:74552591:74552657:74554757:74554835 | 74552591:74552657 | ENSG00000174428.12 | ENST00000394939.3,ENST00000430511.2,ENST00000423666.1,ENST00000472837.1,ENST00000312575.7,ENST00000356115.5 |
| exon_skip_467283 | 7 | 74552591:74552657:74554757:74554835:74556909:74556993 | 74554757:74554835 | ENSG00000174428.12 | ENST00000394939.3,ENST00000430511.2,ENST00000423666.1,ENST00000472837.1,ENST00000312575.7,ENST00000356115.5 |
| exon_skip_467286 | 7 | 74554757:74554835:74556909:74556993:74558288:74558472 | 74556909:74556993 | ENSG00000174428.12 | ENST00000394939.3,ENST00000430511.2,ENST00000423666.1,ENST00000472837.1,ENST00000312575.7,ENST00000356115.5 |
| exon_skip_467287 | 7 | 74556909:74556993:74558288:74558472:74559756:74559785 | 74558288:74558472 | ENSG00000174428.12 | ENST00000394939.3,ENST00000430511.2,ENST00000423666.1,ENST00000472837.1,ENST00000312575.7,ENST00000356115.5 |
| exon_skip_467289 | 7 | 74556909:74556993:74559756:74559785:74563499:74565616 | 74559756:74559785 | ENSG00000174428.12 | ENST00000418185.2 |
| exon_skip_467291 | 7 | 74558288:74558472:74559756:74559785:74563499:74565616 | 74559756:74559785 | ENSG00000174428.12 | ENST00000423666.1,ENST00000472837.1,ENST00000312575.7 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for GTF2IRD2B |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_467273 | 7 | 74538936:74539120:74539288:74539317:74541716:74541771 | 74539288:74539317 | ENSG00000174428.12 | ENST00000356115.5,ENST00000430511.2,ENST00000312575.7,ENST00000423666.1 |
| exon_skip_467274 | 7 | 74541716:74541771:74542142:74542186:74548942:74549020 | 74542142:74542186 | ENSG00000174428.12 | ENST00000356115.5,ENST00000312575.7,ENST00000472837.1 |
| exon_skip_467275 | 7 | 74542142:74542186:74548942:74549020:74550810:74550867 | 74548942:74549020 | ENSG00000174428.12 | ENST00000356115.5,ENST00000312575.7,ENST00000472837.1 |
| exon_skip_467277 | 7 | 74548962:74549020:74550810:74550867:74552591:74552657 | 74550810:74550867 | ENSG00000174428.12 | ENST00000356115.5,ENST00000430511.2,ENST00000312575.7,ENST00000423666.1,ENST00000472837.1,ENST00000394939.3 |
| exon_skip_467282 | 7 | 74550810:74550867:74552591:74552657:74554757:74554835 | 74552591:74552657 | ENSG00000174428.12 | ENST00000356115.5,ENST00000430511.2,ENST00000312575.7,ENST00000423666.1,ENST00000472837.1,ENST00000394939.3 |
| exon_skip_467283 | 7 | 74552591:74552657:74554757:74554835:74556909:74556993 | 74554757:74554835 | ENSG00000174428.12 | ENST00000356115.5,ENST00000430511.2,ENST00000312575.7,ENST00000423666.1,ENST00000472837.1,ENST00000394939.3 |
| exon_skip_467286 | 7 | 74554757:74554835:74556909:74556993:74558288:74558472 | 74556909:74556993 | ENSG00000174428.12 | ENST00000356115.5,ENST00000430511.2,ENST00000312575.7,ENST00000423666.1,ENST00000472837.1,ENST00000394939.3 |
| exon_skip_467287 | 7 | 74556909:74556993:74558288:74558472:74559756:74559785 | 74558288:74558472 | ENSG00000174428.12 | ENST00000356115.5,ENST00000430511.2,ENST00000312575.7,ENST00000423666.1,ENST00000472837.1,ENST00000394939.3 |
| exon_skip_467289 | 7 | 74556909:74556993:74559756:74559785:74563499:74565616 | 74559756:74559785 | ENSG00000174428.12 | ENST00000418185.2 |
| exon_skip_467291 | 7 | 74558288:74558472:74559756:74559785:74563499:74565616 | 74559756:74559785 | ENSG00000174428.12 | ENST00000312575.7,ENST00000423666.1,ENST00000472837.1 |
| 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 GTF2IRD2B |
| 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 |
| 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 |
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Infer the effects of exon skipping event on protein functional features for GTF2IRD2B |
| 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 GTF2IRD2B |
| - 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_467266 | 74536692 | 74536811 | 74536795 | 74536795 | Frame_Shift_Del | T | - | p.Y114fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_467265 | 74528191 | 74528329 | 74528274 | 74528275 | Frame_Shift_Ins | - | G | p.M62fs |
| BRCA | TCGA-A8-A08J-01 | exon_skip_467283 | 74554758 | 74554835 | 74554778 | 74554779 | Frame_Shift_Ins | - | T | p.T299fs |
| UCEC | TCGA-BS-A0TJ-01 | exon_skip_467282 | 74552592 | 74552657 | 74552657 | 74552657 | Nonsense_Mutation | G | T | p.G291* |
| - 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 |
| MUTZ5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 74542143 | 74542186 | 74542175 | 74542175 | Missense_Mutation | T | A | p.M220K |
| PFEIFFER_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 74542143 | 74542186 | 74542175 | 74542175 | Missense_Mutation | T | A | p.M220K |
| UOK101_KIDNEY | 74542143 | 74542186 | 74542175 | 74542175 | Missense_Mutation | T | A | p.M220K |
| HT115_LARGE_INTESTINE | 74554758 | 74554835 | 74554760 | 74554760 | Missense_Mutation | A | C | p.N292H |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for GTF2IRD2B |
| 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 GTF2IRD2B |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for GTF2IRD2B |
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RelatedDrugs for GTF2IRD2B |
| 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 GTF2IRD2B |
| 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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