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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 PGGT1B |
 Gene summary |
| Gene information | Gene symbol | PGGT1B | Gene ID | 5229 |
| Gene name | protein geranylgeranyltransferase type I subunit beta | |
| Synonyms | BGGI|GGTI | |
| Cytomap | 5q22.3 | |
| Type of gene | protein-coding | |
| Description | geranylgeranyl transferase type-1 subunit betaCTC-428G20.3GGTase-I-betageranylgeranyl transferase type I subunit betageranylgeranyltransferase type I beta subunitprotein geranylgeranyltransferase type I, beta subunittype I protein geranyl-geranyltra | |
| Modification date | 20180523 | |
| UniProtAcc | P53609 | |
| Context | PubMed: PGGT1B [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 |
| PGGT1B | GO:0018344 | protein geranylgeranylation | 16893176 |
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Exon skipping events across known transcript of Ensembl for PGGT1B 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 PGGT1B |
| 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 PGGT1B |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_443550 | 5 | 114552561:114552670:114557520:114557705:114566672:114566718 | 114557520:114557705 | ENSG00000164219.5 | ENST00000514178.1,ENST00000419445.1 |
| exon_skip_443552 | 5 | 114552561:114552670:114566672:114566718:114572086:114572219 | 114566672:114566718 | ENSG00000164219.5 | ENST00000296642.4 |
| exon_skip_443553 | 5 | 114557520:114557705:114566672:114566718:114572086:114572219 | 114566672:114566718 | ENSG00000164219.5 | ENST00000419445.1 |
| exon_skip_443554 | 5 | 114573554:114573706:114577235:114577303:114588833:114588952 | 114577235:114577303 | ENSG00000164219.5 | ENST00000379615.3,ENST00000419445.1 |
| exon_skip_443556 | 5 | 114577235:114577303:114588833:114588952:114598408:114598548 | 114588833:114588952 | ENSG00000164219.5 | ENST00000379615.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PGGT1B |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_443550 | 5 | 114552561:114552670:114557520:114557705:114566672:114566718 | 114557520:114557705 | ENSG00000164219.5 | ENST00000419445.1,ENST00000514178.1 |
| exon_skip_443552 | 5 | 114552561:114552670:114566672:114566718:114572086:114572219 | 114566672:114566718 | ENSG00000164219.5 | ENST00000296642.4 |
| exon_skip_443553 | 5 | 114557520:114557705:114566672:114566718:114572086:114572219 | 114566672:114566718 | ENSG00000164219.5 | ENST00000419445.1 |
| exon_skip_443554 | 5 | 114573554:114573706:114577235:114577303:114588833:114588952 | 114577235:114577303 | ENSG00000164219.5 | ENST00000419445.1,ENST00000379615.3 |
| exon_skip_443556 | 5 | 114577235:114577303:114588833:114588952:114598408:114598548 | 114588833:114588952 | ENSG00000164219.5 | ENST00000379615.3 |
| 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 PGGT1B |
| 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 |
| ENST00000419445 | 114557520 | 114557705 | Frame-shift |
| ENST00000419445 | 114566672 | 114566718 | Frame-shift |
| ENST00000419445 | 114577235 | 114577303 | 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 |
| ENST00000419445 | 114557520 | 114557705 | Frame-shift |
| ENST00000419445 | 114566672 | 114566718 | Frame-shift |
| ENST00000419445 | 114577235 | 114577303 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for PGGT1B |
| 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 PGGT1B |
| - 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-G3-A3CJ-01 | exon_skip_443550 | 114557521 | 114557705 | 114557643 | 114557643 | Frame_Shift_Del | A | - | p.S241fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_443552 exon_skip_443553 | 114566673 | 114566718 | 114566693 | 114566693 | Frame_Shift_Del | C | - | p.G213fs |
| COAD | TCGA-AD-6964-01 | exon_skip_443550 | 114557521 | 114557705 | 114557642 | 114557643 | Frame_Shift_Ins | - | A | p.S241fs |
| DLBC | TCGA-GR-7353-01 | exon_skip_443550 | 114557521 | 114557705 | 114557642 | 114557643 | Frame_Shift_Ins | - | A | p.S241fs |
| UCEC | TCGA-AP-A0LM-01 | exon_skip_443550 | 114557521 | 114557705 | 114557703 | 114557703 | Nonsense_Mutation | C | A | p.G221* |
| CHOL | TCGA-ZH-A8Y5-01 | exon_skip_443552 exon_skip_443553 | 114566673 | 114566718 | 114566719 | 114566719 | Splice_Site | C | T | . |
| - 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 |
| CCK81_LARGE_INTESTINE | 114588834 | 114588952 | 114588934 | 114588934 | Frame_Shift_Del | A | - | p.F53fs |
| MFE319_ENDOMETRIUM | 114557521 | 114557705 | 114557642 | 114557643 | Frame_Shift_Ins | - | A | p.S241fs |
| ONS76_CENTRAL_NERVOUS_SYSTEM | 114557521 | 114557705 | 114557535 | 114557535 | Missense_Mutation | C | T | p.G277R |
| EKVX_LUNG | 114557521 | 114557705 | 114557576 | 114557576 | Missense_Mutation | C | T | p.R263K |
| SNUC4_LARGE_INTESTINE | 114557521 | 114557705 | 114557663 | 114557663 | Missense_Mutation | C | T | p.G234D |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 114566673 | 114566718 | 114566691 | 114566691 | Missense_Mutation | C | T | p.A214T |
| SKGIIIA_CERVIX | 114577236 | 114577303 | 114577246 | 114577246 | Missense_Mutation | T | C | p.N106S |
| KYSE180_OESOPHAGUS | 114577236 | 114577303 | 114577296 | 114577296 | Missense_Mutation | A | T | p.N89K |
| FU97_STOMACH | 114588834 | 114588952 | 114588842 | 114588842 | Missense_Mutation | G | A | p.T84I |
| HCC2998_LARGE_INTESTINE | 114588834 | 114588952 | 114588887 | 114588887 | Missense_Mutation | T | C | p.K69R |
| KG1C_CENTRAL_NERVOUS_SYSTEM | 114588834 | 114588952 | 114588952 | 114588952 | Splice_Site | C | A | p.R47S |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PGGT1B |
| 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 PGGT1B |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PGGT1B |
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RelatedDrugs for PGGT1B |
| 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 PGGT1B |
| 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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