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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 GIGYF2 |
 Gene summary |
| Gene information | Gene symbol | GIGYF2 | Gene ID | 26058 |
| Gene name | GRB10 interacting GYF protein 2 | |
| Synonyms | GYF2|PARK11|PERQ2|PERQ3|TNRC15 | |
| Cytomap | 2q37.1 | |
| Type of gene | protein-coding | |
| Description | GRB10-interacting GYF protein 2PERQ amino acid rich, with GYF domain 3PERQ amino acid-rich with GYF domain-containing protein 2Parkinson disease (autosomal recessive, early onset) 11trinucleotide repeat-containing gene 15 protein | |
| Modification date | 20180522 | |
| UniProtAcc | Q6Y7W6 | |
| Context | PubMed: GIGYF2 [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 |
| GIGYF2 | GO:0016441 | posttranscriptional gene silencing | 27157137 |
| GIGYF2 | GO:0061157 | mRNA destabilization | 27157137 |
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Exon skipping events across known transcript of Ensembl for GIGYF2 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 GIGYF2 |
| 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 GIGYF2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_334861 | 2 | 233562092:233562102:233562978:233563017:233568133:233568199 | 233562978:233563017 | ENSG00000204120.10 | ENST00000490229.1 |
| exon_skip_334862 | 2 | 233562092:233562102:233565294:233565364:233568133:233568199 | 233565294:233565364 | ENSG00000204120.10 | ENST00000483164.1,ENST00000489328.1,ENST00000409547.1,ENST00000475359.1,ENST00000409480.1,ENST00000409451.3,ENST00000456491.1,ENST00000427233.1,ENST00000464805.1,ENST00000482666.1 |
| exon_skip_334864 | 2 | 233562092:233562102:233568133:233568199:233589283:233589401 | 233568133:233568199 | ENSG00000204120.10 | ENST00000425040.1,ENST00000464402.1 |
| exon_skip_334867 | 2 | 233562092:233562102:233568133:233568199:233599126:233599196 | 233568133:233568199 | ENSG00000204120.10 | ENST00000490612.1 |
| exon_skip_334868 | 2 | 233562092:233562102:233568133:233568199:233599864:233599947 | 233568133:233568199 | ENSG00000204120.10 | ENST00000463554.1,ENST00000440945.1,ENST00000492910.1,ENST00000373563.4,ENST00000373566.3,ENST00000488629.1,ENST00000423659.1 |
| exon_skip_334876 | 2 | 233562092:233562102:233589283:233589401:233599864:233599947 | 233589283:233589401 | ENSG00000204120.10 | ENST00000430720.1 |
| exon_skip_334879 | 2 | 233562092:233562102:233599126:233599196:233599864:233599947 | 233599126:233599196 | ENSG00000204120.10 | ENST00000428883.1 |
| exon_skip_334880 | 2 | 233562092:233562102:233599864:233599948:233612324:233612413 | 233599864:233599948 | ENSG00000204120.10 | ENST00000409196.3 |
| exon_skip_334885 | 2 | 233568133:233568199:233583747:233583838:233599864:233599947 | 233583747:233583838 | ENSG00000204120.10 | ENST00000488734.1 |
| exon_skip_334886 | 2 | 233568133:233568199:233587263:233587368:233589283:233589401 | 233587263:233587368 | ENSG00000204120.10 | ENST00000427233.1 |
| exon_skip_334892 | 2 | 233568133:233568199:233589283:233589401:233595831:233595944 | 233589283:233589401 | ENSG00000204120.10 | ENST00000482666.1 |
| exon_skip_334894 | 2 | 233568133:233568199:233589283:233589401:233599864:233599947 | 233589283:233589401 | ENSG00000204120.10 | ENST00000425040.1,ENST00000464402.1 |
| exon_skip_334900 | 2 | 233568133:233568199:233595831:233595944:233599864:233599947 | 233595831:233595944 | ENSG00000204120.10 | ENST00000421433.1 |
| exon_skip_334902 | 2 | 233568133:233568199:233595831:233595968:233599864:233599947 | 233595831:233595968 | ENSG00000204120.10 | ENST00000429187.1 |
| exon_skip_334903 | 2 | 233568133:233568199:233599126:233599196:233599864:233599947 | 233599126:233599196 | ENSG00000204120.10 | ENST00000490229.1,ENST00000483164.1,ENST00000409547.1,ENST00000476995.1,ENST00000464805.1,ENST00000490612.1 |
| exon_skip_334904 | 2 | 233568133:233568199:233599864:233599948:233612324:233612413 | 233599864:233599948 | ENSG00000204120.10 | ENST00000463554.1,ENST00000424038.1,ENST00000440945.1,ENST00000373563.4,ENST00000409480.1,ENST00000409451.3,ENST00000373566.3,ENST00000456491.1,ENST00000423659.1 |
| exon_skip_334913 | 2 | 233587263:233587368:233589283:233589401:233599864:233599947 | 233589283:233589401 | ENSG00000204120.10 | ENST00000427233.1 |
| exon_skip_334924 | 2 | 233589307:233589401:233595831:233595944:233599864:233599947 | 233595831:233595944 | ENSG00000204120.10 | ENST00000482666.1 |
| exon_skip_334930 | 2 | 233613696:233613792:233620932:233621044:233625189:233625301 | 233620932:233621044 | ENSG00000204120.10 | ENST00000463554.1,ENST00000440945.1,ENST00000373563.4,ENST00000409547.1,ENST00000409480.1,ENST00000409451.3,ENST00000373566.3,ENST00000409196.3 |
| exon_skip_334933 | 2 | 233626105:233626146:233641121:233641187:233651859:233651957 | 233641121:233641187 | ENSG00000204120.10 | ENST00000409480.1,ENST00000409451.3,ENST00000373566.3 |
| exon_skip_334934 | 2 | 233675953:233676061:233677100:233677201:233680346:233680447 | 233677100:233677201 | ENSG00000204120.10 | ENST00000440945.1,ENST00000452341.2,ENST00000474312.1,ENST00000373563.4,ENST00000409547.1,ENST00000409480.1,ENST00000409451.3,ENST00000373566.3,ENST00000423659.1,ENST00000409196.3,ENST00000482952.1 |
| exon_skip_334936 | 2 | 233681580:233681742:233684536:233684695:233697566:233697803 | 233684536:233684695 | ENSG00000204120.10 | ENST00000452341.2,ENST00000474312.1,ENST00000373563.4,ENST00000409547.1,ENST00000409480.1,ENST00000409451.3,ENST00000373566.3,ENST00000409196.3 |
| exon_skip_334938 | 2 | 233684536:233684695:233697566:233697803:233704558:233704681 | 233697566:233697803 | ENSG00000204120.10 | ENST00000452341.2,ENST00000474312.1,ENST00000373563.4,ENST00000409547.1,ENST00000409480.1,ENST00000409451.3,ENST00000373566.3,ENST00000409196.3 |
| exon_skip_334940 | 2 | 233697570:233697803:233704558:233704681:233708755:233708906 | 233704558:233704681 | ENSG00000204120.10 | ENST00000474312.1,ENST00000373563.4,ENST00000409547.1,ENST00000409480.1,ENST00000409451.3,ENST00000373566.3,ENST00000409196.3 |
| exon_skip_334943 | 2 | 233709078:233709284:233710441:233710596:233712057:233712209 | 233710441:233710596 | ENSG00000204120.10 | ENST00000474312.1,ENST00000373563.4,ENST00000409547.1,ENST00000409480.1,ENST00000409451.3,ENST00000373566.3,ENST00000409196.3 |
| exon_skip_334945 | 2 | 233710441:233710596:233712057:233712281:233714971:233715119 | 233712057:233712281 | ENSG00000204120.10 | ENST00000474312.1,ENST00000373563.4,ENST00000409547.1,ENST00000409480.1,ENST00000409451.3,ENST00000373566.3,ENST00000409196.3 |
| exon_skip_334946 | 2 | 233712230:233712281:233714971:233715119:233721502:233723318 | 233714971:233715119 | ENSG00000204120.10 | ENST00000474312.1,ENST00000373563.4,ENST00000409547.1,ENST00000409480.1,ENST00000409451.3,ENST00000373566.3,ENST00000409196.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for GIGYF2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_334861 | 2 | 233562092:233562102:233562978:233563017:233568133:233568199 | 233562978:233563017 | ENSG00000204120.10 | ENST00000490229.1 |
| exon_skip_334862 | 2 | 233562092:233562102:233565294:233565364:233568133:233568199 | 233565294:233565364 | ENSG00000204120.10 | ENST00000427233.1,ENST00000456491.1,ENST00000409480.1,ENST00000475359.1,ENST00000409547.1,ENST00000409451.3,ENST00000482666.1,ENST00000483164.1,ENST00000464805.1,ENST00000489328.1 |
| exon_skip_334864 | 2 | 233562092:233562102:233568133:233568199:233589283:233589401 | 233568133:233568199 | ENSG00000204120.10 | ENST00000464402.1,ENST00000425040.1 |
| exon_skip_334867 | 2 | 233562092:233562102:233568133:233568199:233599126:233599196 | 233568133:233568199 | ENSG00000204120.10 | ENST00000490612.1 |
| exon_skip_334868 | 2 | 233562092:233562102:233568133:233568199:233599864:233599947 | 233568133:233568199 | ENSG00000204120.10 | ENST00000373566.3,ENST00000373563.4,ENST00000492910.1,ENST00000488629.1,ENST00000423659.1,ENST00000463554.1,ENST00000440945.1 |
| exon_skip_334876 | 2 | 233562092:233562102:233589283:233589401:233599864:233599947 | 233589283:233589401 | ENSG00000204120.10 | ENST00000430720.1 |
| exon_skip_334879 | 2 | 233562092:233562102:233599126:233599196:233599864:233599947 | 233599126:233599196 | ENSG00000204120.10 | ENST00000428883.1 |
| exon_skip_334880 | 2 | 233562092:233562102:233599864:233599948:233612324:233612413 | 233599864:233599948 | ENSG00000204120.10 | ENST00000409196.3 |
| exon_skip_334885 | 2 | 233568133:233568199:233583747:233583838:233599864:233599947 | 233583747:233583838 | ENSG00000204120.10 | ENST00000488734.1 |
| exon_skip_334886 | 2 | 233568133:233568199:233587263:233587368:233589283:233589401 | 233587263:233587368 | ENSG00000204120.10 | ENST00000427233.1 |
| exon_skip_334892 | 2 | 233568133:233568199:233589283:233589401:233595831:233595944 | 233589283:233589401 | ENSG00000204120.10 | ENST00000482666.1 |
| exon_skip_334894 | 2 | 233568133:233568199:233589283:233589401:233599864:233599947 | 233589283:233589401 | ENSG00000204120.10 | ENST00000464402.1,ENST00000425040.1 |
| exon_skip_334900 | 2 | 233568133:233568199:233595831:233595944:233599864:233599947 | 233595831:233595944 | ENSG00000204120.10 | ENST00000421433.1 |
| exon_skip_334902 | 2 | 233568133:233568199:233595831:233595968:233599864:233599947 | 233595831:233595968 | ENSG00000204120.10 | ENST00000429187.1 |
| exon_skip_334903 | 2 | 233568133:233568199:233599126:233599196:233599864:233599947 | 233599126:233599196 | ENSG00000204120.10 | ENST00000476995.1,ENST00000490612.1,ENST00000409547.1,ENST00000483164.1,ENST00000490229.1,ENST00000464805.1 |
| exon_skip_334904 | 2 | 233568133:233568199:233599864:233599948:233612324:233612413 | 233599864:233599948 | ENSG00000204120.10 | ENST00000373566.3,ENST00000373563.4,ENST00000456491.1,ENST00000409480.1,ENST00000423659.1,ENST00000409451.3,ENST00000463554.1,ENST00000440945.1,ENST00000424038.1 |
| exon_skip_334913 | 2 | 233587263:233587368:233589283:233589401:233599864:233599947 | 233589283:233589401 | ENSG00000204120.10 | ENST00000427233.1 |
| exon_skip_334924 | 2 | 233589307:233589401:233595831:233595944:233599864:233599947 | 233595831:233595944 | ENSG00000204120.10 | ENST00000482666.1 |
| exon_skip_334930 | 2 | 233613696:233613792:233620932:233621044:233625189:233625301 | 233620932:233621044 | ENSG00000204120.10 | ENST00000373566.3,ENST00000373563.4,ENST00000409480.1,ENST00000409547.1,ENST00000409196.3,ENST00000409451.3,ENST00000463554.1,ENST00000440945.1 |
| exon_skip_334933 | 2 | 233626105:233626146:233641121:233641187:233651859:233651957 | 233641121:233641187 | ENSG00000204120.10 | ENST00000373566.3,ENST00000409480.1,ENST00000409451.3 |
| exon_skip_334934 | 2 | 233675953:233676061:233677100:233677201:233680346:233680447 | 233677100:233677201 | ENSG00000204120.10 | ENST00000373566.3,ENST00000373563.4,ENST00000409480.1,ENST00000409547.1,ENST00000423659.1,ENST00000409196.3,ENST00000409451.3,ENST00000440945.1,ENST00000452341.2,ENST00000482952.1,ENST00000474312.1 |
| exon_skip_334936 | 2 | 233681580:233681742:233684536:233684695:233697566:233697803 | 233684536:233684695 | ENSG00000204120.10 | ENST00000373566.3,ENST00000373563.4,ENST00000409480.1,ENST00000409547.1,ENST00000409196.3,ENST00000409451.3,ENST00000452341.2,ENST00000474312.1 |
| exon_skip_334938 | 2 | 233684536:233684695:233697566:233697803:233704558:233704681 | 233697566:233697803 | ENSG00000204120.10 | ENST00000373566.3,ENST00000373563.4,ENST00000409480.1,ENST00000409547.1,ENST00000409196.3,ENST00000409451.3,ENST00000452341.2,ENST00000474312.1 |
| exon_skip_334940 | 2 | 233697570:233697803:233704558:233704681:233708755:233708906 | 233704558:233704681 | ENSG00000204120.10 | ENST00000373566.3,ENST00000373563.4,ENST00000409480.1,ENST00000409547.1,ENST00000409196.3,ENST00000409451.3,ENST00000474312.1 |
| exon_skip_334943 | 2 | 233709078:233709284:233710441:233710596:233712057:233712209 | 233710441:233710596 | ENSG00000204120.10 | ENST00000373566.3,ENST00000373563.4,ENST00000409480.1,ENST00000409547.1,ENST00000409196.3,ENST00000409451.3,ENST00000474312.1 |
| exon_skip_334945 | 2 | 233710441:233710596:233712057:233712281:233714971:233715119 | 233712057:233712281 | ENSG00000204120.10 | ENST00000373566.3,ENST00000373563.4,ENST00000409480.1,ENST00000409547.1,ENST00000409196.3,ENST00000409451.3,ENST00000474312.1 |
| exon_skip_334946 | 2 | 233712230:233712281:233714971:233715119:233721502:233723318 | 233714971:233715119 | ENSG00000204120.10 | ENST00000373566.3,ENST00000373563.4,ENST00000409480.1,ENST00000409547.1,ENST00000409196.3,ENST00000409451.3,ENST00000474312.1 |
| 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 GIGYF2 |
| 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 |
| ENST00000373563 | 233599864 | 233599948 | 5CDS-5UTR |
| ENST00000409547 | 233565294 | 233565364 | 5UTR-5UTR |
| ENST00000373563 | 233568133 | 233568199 | 5UTR-5UTR |
| ENST00000409547 | 233599126 | 233599196 | 5UTR-5UTR |
| ENST00000373563 | 233620932 | 233621044 | Frame-shift |
| ENST00000409547 | 233620932 | 233621044 | Frame-shift |
| ENST00000373563 | 233677100 | 233677201 | Frame-shift |
| ENST00000409547 | 233677100 | 233677201 | Frame-shift |
| ENST00000373563 | 233710441 | 233710596 | Frame-shift |
| ENST00000409547 | 233710441 | 233710596 | Frame-shift |
| ENST00000373563 | 233712057 | 233712281 | Frame-shift |
| ENST00000409547 | 233712057 | 233712281 | Frame-shift |
| ENST00000373563 | 233714971 | 233715119 | Frame-shift |
| ENST00000409547 | 233714971 | 233715119 | Frame-shift |
| ENST00000373563 | 233684536 | 233684695 | In-frame |
| ENST00000409547 | 233684536 | 233684695 | In-frame |
| ENST00000373563 | 233697566 | 233697803 | In-frame |
| ENST00000409547 | 233697566 | 233697803 | In-frame |
| ENST00000373563 | 233704558 | 233704681 | In-frame |
| ENST00000409547 | 233704558 | 233704681 | 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 |
| ENST00000373563 | 233599864 | 233599948 | 5CDS-5UTR |
| ENST00000409547 | 233565294 | 233565364 | 5UTR-5UTR |
| ENST00000373563 | 233568133 | 233568199 | 5UTR-5UTR |
| ENST00000409547 | 233599126 | 233599196 | 5UTR-5UTR |
| ENST00000373563 | 233620932 | 233621044 | Frame-shift |
| ENST00000409547 | 233620932 | 233621044 | Frame-shift |
| ENST00000373563 | 233677100 | 233677201 | Frame-shift |
| ENST00000409547 | 233677100 | 233677201 | Frame-shift |
| ENST00000373563 | 233710441 | 233710596 | Frame-shift |
| ENST00000409547 | 233710441 | 233710596 | Frame-shift |
| ENST00000373563 | 233712057 | 233712281 | Frame-shift |
| ENST00000409547 | 233712057 | 233712281 | Frame-shift |
| ENST00000373563 | 233714971 | 233715119 | Frame-shift |
| ENST00000409547 | 233714971 | 233715119 | Frame-shift |
| ENST00000373563 | 233684536 | 233684695 | In-frame |
| ENST00000409547 | 233684536 | 233684695 | In-frame |
| ENST00000373563 | 233697566 | 233697803 | In-frame |
| ENST00000409547 | 233697566 | 233697803 | In-frame |
| ENST00000373563 | 233704558 | 233704681 | In-frame |
| ENST00000409547 | 233704558 | 233704681 | In-frame |
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Infer the effects of exon skipping event on protein functional features for GIGYF2 |
| 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 |
| ENST00000373563 | 5864 | 1299 | 233684536 | 233684695 | 2566 | 2724 | 790 | 843 |
| ENST00000409547 | 5995 | 1299 | 233684536 | 233684695 | 2682 | 2840 | 790 | 843 |
| ENST00000373563 | 5864 | 1299 | 233697566 | 233697803 | 2725 | 2961 | 843 | 922 |
| ENST00000409547 | 5995 | 1299 | 233697566 | 233697803 | 2841 | 3077 | 843 | 922 |
| ENST00000373563 | 5864 | 1299 | 233704558 | 233704681 | 2962 | 3084 | 922 | 963 |
| ENST00000409547 | 5995 | 1299 | 233704558 | 233704681 | 3078 | 3200 | 922 | 963 |
| 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 |
| ENST00000373563 | 5864 | 1299 | 233684536 | 233684695 | 2566 | 2724 | 790 | 843 |
| ENST00000409547 | 5995 | 1299 | 233684536 | 233684695 | 2682 | 2840 | 790 | 843 |
| ENST00000373563 | 5864 | 1299 | 233697566 | 233697803 | 2725 | 2961 | 843 | 922 |
| ENST00000409547 | 5995 | 1299 | 233697566 | 233697803 | 2841 | 3077 | 843 | 922 |
| ENST00000373563 | 5864 | 1299 | 233704558 | 233704681 | 2962 | 3084 | 922 | 963 |
| ENST00000409547 | 5995 | 1299 | 233704558 | 233704681 | 3078 | 3200 | 922 | 963 |
| 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 GIGYF2 |
| - 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. |
GIGYF2_LGG_exon_skip_334945_psi_boxplot.png |
GIGYF2_LIHC_exon_skip_334945_psi_boxplot.png |
| - 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_334933 | 233641122 | 233641187 | 233641168 | 233641168 | Frame_Shift_Del | G | - | p.L193fs |
| STAD | TCGA-BR-4201-01 | exon_skip_334934 | 233677101 | 233677201 | 233677140 | 233677141 | Frame_Shift_Del | TG | - | p.S703fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_334936 | 233684537 | 233684695 | 233684661 | 233684661 | Frame_Shift_Del | A | - | p.E854fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_334940 | 233704559 | 233704681 | 233704578 | 233704578 | Frame_Shift_Del | G | - | p.W951fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_334940 | 233704559 | 233704681 | 233704611 | 233704611 | Frame_Shift_Del | C | - | p.S962fs |
| UCEC | TCGA-AP-A0LP-01 | exon_skip_334940 | 233704559 | 233704681 | 233704620 | 233704620 | Frame_Shift_Del | C | - | p.T964fs |
| UCEC | TCGA-AP-A05N-01 | exon_skip_334940 | 233704559 | 233704681 | 233704621 | 233704621 | Frame_Shift_Del | G | - | p.L965fs |
| UCEC | TCGA-AP-A05N-01 | exon_skip_334940 | 233704559 | 233704681 | 233704621 | 233704621 | Frame_Shift_Del | G | - | p.T964fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_334943 | 233710442 | 233710596 | 233710524 | 233710524 | Frame_Shift_Del | A | - | p.K1152fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_334945 | 233712058 | 233712281 | 233712156 | 233712156 | Frame_Shift_Del | T | - | p.F1209fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_334945 | 233712058 | 233712281 | 233712192 | 233712192 | Frame_Shift_Del | A | - | p.K1221fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_334940 | 233704559 | 233704681 | 233704640 | 233704641 | Frame_Shift_Ins | - | A | p.K972fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_334946 | 233714972 | 233715119 | 233714981 | 233714982 | Frame_Shift_Ins | - | G | p.G1254fs |
| COAD | TCGA-AZ-6598-01 | exon_skip_334930 | 233620933 | 233621044 | 233620984 | 233620984 | Nonsense_Mutation | C | T | p.R107X |
| ESCA | TCGA-R6-A6Y0-01 | exon_skip_334930 | 233620933 | 233621044 | 233620984 | 233620984 | Nonsense_Mutation | C | T | p.R107X |
| STAD | TCGA-BR-6452-01 | exon_skip_334930 | 233620933 | 233621044 | 233620987 | 233620987 | Nonsense_Mutation | G | T | p.G108* |
| PRAD | TCGA-KK-A59V-01 | exon_skip_334930 | 233620933 | 233621044 | 233621023 | 233621023 | Nonsense_Mutation | C | T | p.R120* |
| SKCM | TCGA-ER-A193-06 | exon_skip_334934 | 233677101 | 233677201 | 233677177 | 233677177 | Nonsense_Mutation | C | T | p.Q717* |
| STAD | TCGA-BR-6852-01 | exon_skip_334936 | 233684537 | 233684695 | 233684582 | 233684582 | Nonsense_Mutation | C | T | p.R806* |
| THYM | TCGA-ZB-A966-01 | exon_skip_334936 | 233684537 | 233684695 | 233684582 | 233684582 | Nonsense_Mutation | C | T | p.R827X |
| HNSC | TCGA-CQ-A4CD-01 | exon_skip_334943 | 233710442 | 233710596 | 233710512 | 233710512 | Nonsense_Mutation | C | T | p.Q1148* |
| LGG | TCGA-DU-6392-01 | exon_skip_334943 | 233710442 | 233710596 | 233710515 | 233710515 | Nonsense_Mutation | G | T | p.G1149* |
| UCEC | TCGA-BS-A0UF-01 | exon_skip_334945 | 233712058 | 233712281 | 233712090 | 233712090 | Nonsense_Mutation | G | T | p.E1186* |
| LGG | TCGA-S9-A7IY-01 | exon_skip_334945 | 233712058 | 233712281 | 233712219 | 233712219 | Nonsense_Mutation | C | T | p.Q1230* |
| SKCM | TCGA-D3-A3MR-06 | exon_skip_334946 | 233714972 | 233715119 | 233715038 | 233715038 | Nonsense_Mutation | C | T | p.Q1245X |
| SKCM | TCGA-D3-A3MR-06 | exon_skip_334946 | 233714972 | 233715119 | 233715038 | 233715038 | Nonsense_Mutation | C | T | p.Q1273* |
| STAD | TCGA-BR-8081-01 | exon_skip_334946 | 233714972 | 233715119 | 233715062 | 233715062 | Nonsense_Mutation | C | T | p.Q1259* |
| STAD | TCGA-BR-8081-01 | exon_skip_334946 | 233714972 | 233715119 | 233715062 | 233715062 | Nonsense_Mutation | C | T | p.Q1280X |
| BLCA | TCGA-GD-A3OQ-01 | exon_skip_334943 | 233710442 | 233710596 | 233710441 | 233710441 | Splice_Site | G | A | p.S1102_splice |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-S9-A7IY-01 |
| Cancer type: LGG | |
| ESID: exon_skip_334945 | |
| Skipped exon start: 233712058 | |
| Skipped exon end: 233712281 | |
| Mutation start: 233712219 | |
| Mutation end: 233712219 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: p.Q1230* | |
exon_skip_334945_LGG_TCGA-S9-A7IY-01.png | |
| - 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 |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 233620933 | 233621044 | 233621007 | 233621007 | Frame_Shift_Del | G | - | p.V114fs |
| KP4_PANCREAS | 233697567 | 233697803 | 233697764 | 233697772 | In_Frame_Del | GCAGCAGCA | - | p.QQQ913del |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 233620933 | 233621044 | 233620984 | 233620985 | In_Frame_Ins | - | GAG | p.111_112insG |
| TYKNU_OVARY | 233620933 | 233621044 | 233620973 | 233620973 | Missense_Mutation | G | A | p.R103Q |
| KM12_LARGE_INTESTINE | 233620933 | 233621044 | 233620982 | 233620982 | Missense_Mutation | G | A | p.G106E |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 233677101 | 233677201 | 233677104 | 233677104 | Missense_Mutation | A | G | p.I670M |
| SNGM_ENDOMETRIUM | 233677101 | 233677201 | 233677133 | 233677133 | Missense_Mutation | C | A | p.T680N |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 233677101 | 233677201 | 233677135 | 233677135 | Missense_Mutation | A | G | p.R681G |
| NCIH630_LARGE_INTESTINE | 233684537 | 233684695 | 233684559 | 233684559 | Missense_Mutation | G | A | p.R798Q |
| HEPG2_LIVER | 233684537 | 233684695 | 233684603 | 233684603 | Missense_Mutation | A | G | p.R813G |
| C3A_LIVER | 233684537 | 233684695 | 233684603 | 233684603 | Missense_Mutation | A | G | p.R813G |
| NCIH2009_LUNG | 233684537 | 233684695 | 233684628 | 233684628 | Missense_Mutation | G | C | p.R821T |
| HCC2108_LUNG | 233684537 | 233684695 | 233684673 | 233684673 | Missense_Mutation | A | T | p.Q836L |
| MORCPR_LUNG | 233684537 | 233684695 | 233684673 | 233684673 | Missense_Mutation | A | T | p.Q836L |
| KMRC2_KIDNEY | 233697567 | 233697803 | 233697604 | 233697604 | Missense_Mutation | A | C | p.E856A |
| MAC2A_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 233697567 | 233697803 | 233697657 | 233697657 | Missense_Mutation | A | G | p.R874G |
| SNUC4_LARGE_INTESTINE | 233710442 | 233710596 | 233710483 | 233710483 | Missense_Mutation | A | T | p.E1116V |
| EFO27_OVARY | 233710442 | 233710596 | 233710483 | 233710483 | Missense_Mutation | A | T | p.E1116V |
| LMSU_STOMACH | 233710442 | 233710596 | 233710573 | 233710573 | Missense_Mutation | T | A | p.L1146H |
| SNU1040_LARGE_INTESTINE | 233712058 | 233712281 | 233712117 | 233712117 | Missense_Mutation | A | G | p.I1174V |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 233712058 | 233712281 | 233712196 | 233712196 | Missense_Mutation | C | T | p.A1200V |
| HT115_LARGE_INTESTINE | 233712058 | 233712281 | 233712207 | 233712207 | Missense_Mutation | C | T | p.R1204C |
| HEC6_ENDOMETRIUM | 233712058 | 233712281 | 233712262 | 233712262 | Missense_Mutation | C | A | p.P1222Q |
| UMUC6_URINARY_TRACT | 233677101 | 233677201 | 233677127 | 233677127 | Nonsense_Mutation | C | A | p.S678* |
| MDAMB415_BREAST | 233677101 | 233677201 | 233677177 | 233677177 | Nonsense_Mutation | C | T | p.Q695* |
| NCIBL128_MATCHED_NORMAL_TISSUE | 233714972 | 233715119 | 233714982 | 233714982 | Nonsense_Mutation | G | A | p.W1232* |
| NCIH322_LUNG | 233599865 | 233599948 | 233599948 | 233599949 | Splice_Site | GG | TT | p.W14F |
| RS411_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 233697567 | 233697803 | 233697567 | 233697567 | Splice_Site | G | A | p.E844K |
| HEC6_ENDOMETRIUM | 233712058 | 233712281 | 233712280 | 233712290 | Splice_Site | AGGTATAAAGT | - | p.Q1228fs |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for GIGYF2 |
| 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 GIGYF2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for GIGYF2 |
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RelatedDrugs for GIGYF2 |
| 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 GIGYF2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| GIGYF2 | C4083045 | PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO | 1 | CTD_human;UNIPROT |
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