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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 FGGY |
 Gene summary |
| Gene information | Gene symbol | FGGY | Gene ID | 55277 |
| Gene name | FGGY carbohydrate kinase domain containing | |
| Synonyms | - | |
| Cytomap | 1p32.1 | |
| Type of gene | protein-coding | |
| Description | FGGY carbohydrate kinase domain-containing proteinD-ribulokinase | |
| Modification date | 20180519 | |
| UniProtAcc | Q96C11 | |
| Context | PubMed: FGGY [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 |
| FGGY | GO:0019321 | pentose metabolic process | 27909055 |
| FGGY | GO:0046835 | carbohydrate phosphorylation | 27909055 |
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Exon skipping events across known transcript of Ensembl for FGGY 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 FGGY |
| 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 FGGY |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_6738 | 1 | 59762526:59762579:59787207:59787422:59805629:59805741 | 59787207:59787422 | ENSG00000172456.12 | ENST00000413489.1 |
| exon_skip_6745 | 1 | 59762526:59762579:59811918:59812070:59844420:59844509 | 59811918:59812070 | ENSG00000172456.12 | ENST00000474476.1 |
| exon_skip_6751 | 1 | 59762683:59762822:59781391:59781408:59787207:59787384 | 59781391:59781408 | ENSG00000172456.12 | ENST00000430447.1 |
| exon_skip_6754 | 1 | 59762683:59762822:59787207:59787422:59805629:59805741 | 59787207:59787422 | ENSG00000172456.12 | ENST00000371218.4,ENST00000303721.7 |
| exon_skip_6755 | 1 | 59762683:59762822:59787207:59787422:59811918:59812041 | 59787207:59787422 | ENSG00000172456.12 | ENST00000495718.1 |
| exon_skip_6770 | 1 | 59787207:59787422:59797514:59797704:59805629:59805741 | 59797514:59797704 | ENSG00000172456.12 | ENST00000462744.1 |
| exon_skip_6771 | 1 | 59787207:59787422:59805629:59805741:59811918:59812041 | 59805629:59805741 | ENSG00000172456.12 | ENST00000371218.4,ENST00000303721.7,ENST00000413489.1,ENST00000430447.1 |
| exon_skip_6774 | 1 | 59787207:59787422:59811918:59812070:59844420:59844509 | 59811918:59812070 | ENSG00000172456.12 | ENST00000495718.1 |
| exon_skip_6776 | 1 | 59787207:59787422:59844420:59844509:59922632:59922748 | 59844420:59844509 | ENSG00000172456.12 | ENST00000371212.1 |
| exon_skip_6778 | 1 | 59805629:59805741:59811918:59812070:59844420:59844509 | 59811918:59812070 | ENSG00000172456.12 | ENST00000371218.4,ENST00000303721.7,ENST00000413489.1,ENST00000430447.1 |
| exon_skip_6784 | 1 | 59811918:59812070:59844420:59844509:59922632:59922748 | 59844420:59844509 | ENSG00000172456.12 | ENST00000495718.1,ENST00000371218.4,ENST00000303721.7,ENST00000430447.1,ENST00000474476.1 |
| exon_skip_6785 | 1 | 59844420:59844509:59922632:59922748:59977982:59978111 | 59922632:59922748 | ENSG00000172456.12 | ENST00000495718.1,ENST00000371218.4,ENST00000371212.1,ENST00000303721.7,ENST00000430447.1,ENST00000474476.1 |
| exon_skip_6786 | 1 | 59858879:59858966:59922632:59922748:59977982:59978111 | 59922632:59922748 | ENSG00000172456.12 | ENST00000475949.1 |
| exon_skip_6789 | 1 | 59922632:59922748:59977982:59978111:60019795:60019899 | 59977982:59978111 | ENSG00000172456.12 | ENST00000495718.1,ENST00000371218.4,ENST00000371212.1,ENST00000303721.7,ENST00000430447.1,ENST00000475949.1,ENST00000474476.1 |
| exon_skip_6790 | 1 | 59977987:59978111:60019795:60019899:60073474:60073582 | 60019795:60019899 | ENSG00000172456.12 | ENST00000495718.1,ENST00000371218.4,ENST00000371212.1,ENST00000303721.7,ENST00000485720.1,ENST00000430447.1,ENST00000475949.1,ENST00000474476.1 |
| exon_skip_6802 | 1 | 60019795:60019899:60073474:60073582:60091659:60091695 | 60073474:60073582 | ENSG00000172456.12 | ENST00000495718.1,ENST00000371218.4,ENST00000371212.1,ENST00000303721.7,ENST00000485720.1,ENST00000430447.1,ENST00000475949.1,ENST00000474476.1,ENST00000371210.1 |
| exon_skip_6806 | 1 | 60073474:60073582:60091659:60091721:60125890:60125965 | 60091659:60091721 | ENSG00000172456.12 | ENST00000485720.1,ENST00000474476.1 |
| exon_skip_6809 | 1 | 60091686:60091721:60103899:60104047:60125890:60125965 | 60103899:60104047 | ENSG00000172456.12 | ENST00000371212.1,ENST00000303721.7,ENST00000493891.1,ENST00000430447.1,ENST00000371210.1 |
| exon_skip_6813 | 1 | 60103899:60104047:60106951:60107023:60125890:60125965 | 60106951:60107023 | ENSG00000172456.12 | ENST00000371218.4 |
| exon_skip_6817 | 1 | 60125890:60125965:60132954:60133075:60223602:60223664 | 60132954:60133075 | ENSG00000172456.12 | ENST00000493891.1 |
| exon_skip_6823 | 1 | 60132954:60133075:60139710:60139805:60146350:60146667 | 60139710:60139805 | ENSG00000172456.12 | ENST00000466791.1 |
| exon_skip_6826 | 1 | 60132954:60133075:60139710:60139805:60163319:60163412 | 60139710:60139805 | ENSG00000172456.12 | ENST00000430447.1 |
| exon_skip_6828 | 1 | 60132954:60133075:60139710:60139805:60223602:60223664 | 60139710:60139805 | ENSG00000172456.12 | ENST00000371218.4,ENST00000371212.1,ENST00000303721.7,ENST00000371210.1 |
| exon_skip_6833 | 1 | 60132954:60133075:60223602:60223664:60228174:60228216 | 60223602:60223664 | ENSG00000172456.12 | ENST00000493891.1 |
| exon_skip_6840 | 1 | 60139710:60139805:60223602:60223664:60228174:60228216 | 60223602:60223664 | ENSG00000172456.12 | ENST00000371218.4,ENST00000371212.1,ENST00000303721.7,ENST00000471169.1,ENST00000472783.1,ENST00000371210.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for FGGY |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_6738 | 1 | 59762526:59762579:59787207:59787422:59805629:59805741 | 59787207:59787422 | ENSG00000172456.12 | ENST00000413489.1 |
| exon_skip_6745 | 1 | 59762526:59762579:59811918:59812070:59844420:59844509 | 59811918:59812070 | ENSG00000172456.12 | ENST00000474476.1 |
| exon_skip_6748 | 1 | 59762683:59762822:59781263:59781408:59781817:59781978 | 59781263:59781408 | ENSG00000172456.12 | ENST00000583635.1 |
| exon_skip_6751 | 1 | 59762683:59762822:59781391:59781408:59787207:59787384 | 59781391:59781408 | ENSG00000172456.12 | ENST00000430447.1 |
| exon_skip_6754 | 1 | 59762683:59762822:59787207:59787422:59805629:59805741 | 59787207:59787422 | ENSG00000172456.12 | ENST00000371218.4,ENST00000303721.7 |
| exon_skip_6755 | 1 | 59762683:59762822:59787207:59787422:59811918:59812041 | 59787207:59787422 | ENSG00000172456.12 | ENST00000495718.1 |
| exon_skip_6770 | 1 | 59787207:59787422:59797514:59797704:59805629:59805741 | 59797514:59797704 | ENSG00000172456.12 | ENST00000462744.1 |
| exon_skip_6771 | 1 | 59787207:59787422:59805629:59805741:59811918:59812041 | 59805629:59805741 | ENSG00000172456.12 | ENST00000413489.1,ENST00000371218.4,ENST00000303721.7,ENST00000430447.1 |
| exon_skip_6774 | 1 | 59787207:59787422:59811918:59812070:59844420:59844509 | 59811918:59812070 | ENSG00000172456.12 | ENST00000495718.1 |
| exon_skip_6776 | 1 | 59787207:59787422:59844420:59844509:59922632:59922748 | 59844420:59844509 | ENSG00000172456.12 | ENST00000371212.1 |
| exon_skip_6778 | 1 | 59805629:59805741:59811918:59812070:59844420:59844509 | 59811918:59812070 | ENSG00000172456.12 | ENST00000413489.1,ENST00000371218.4,ENST00000303721.7,ENST00000430447.1 |
| exon_skip_6784 | 1 | 59811918:59812070:59844420:59844509:59922632:59922748 | 59844420:59844509 | ENSG00000172456.12 | ENST00000474476.1,ENST00000371218.4,ENST00000495718.1,ENST00000303721.7,ENST00000430447.1 |
| exon_skip_6785 | 1 | 59844420:59844509:59922632:59922748:59977982:59978111 | 59922632:59922748 | ENSG00000172456.12 | ENST00000474476.1,ENST00000371218.4,ENST00000495718.1,ENST00000303721.7,ENST00000430447.1,ENST00000371212.1 |
| exon_skip_6786 | 1 | 59858879:59858966:59922632:59922748:59977982:59978111 | 59922632:59922748 | ENSG00000172456.12 | ENST00000475949.1 |
| exon_skip_6789 | 1 | 59922632:59922748:59977982:59978111:60019795:60019899 | 59977982:59978111 | ENSG00000172456.12 | ENST00000474476.1,ENST00000371218.4,ENST00000495718.1,ENST00000303721.7,ENST00000430447.1,ENST00000371212.1,ENST00000475949.1 |
| exon_skip_6790 | 1 | 59977987:59978111:60019795:60019899:60073474:60073582 | 60019795:60019899 | ENSG00000172456.12 | ENST00000474476.1,ENST00000371218.4,ENST00000495718.1,ENST00000303721.7,ENST00000430447.1,ENST00000371212.1,ENST00000475949.1,ENST00000485720.1 |
| exon_skip_6802 | 1 | 60019795:60019899:60073474:60073582:60091659:60091695 | 60073474:60073582 | ENSG00000172456.12 | ENST00000474476.1,ENST00000371218.4,ENST00000495718.1,ENST00000303721.7,ENST00000430447.1,ENST00000371212.1,ENST00000475949.1,ENST00000485720.1,ENST00000371210.1 |
| exon_skip_6806 | 1 | 60073474:60073582:60091659:60091721:60125890:60125965 | 60091659:60091721 | ENSG00000172456.12 | ENST00000474476.1,ENST00000485720.1 |
| exon_skip_6809 | 1 | 60091686:60091721:60103899:60104047:60125890:60125965 | 60103899:60104047 | ENSG00000172456.12 | ENST00000303721.7,ENST00000430447.1,ENST00000371212.1,ENST00000371210.1,ENST00000493891.1 |
| exon_skip_6813 | 1 | 60103899:60104047:60106951:60107023:60125890:60125965 | 60106951:60107023 | ENSG00000172456.12 | ENST00000371218.4 |
| exon_skip_6817 | 1 | 60125890:60125965:60132954:60133075:60223602:60223664 | 60132954:60133075 | ENSG00000172456.12 | ENST00000493891.1 |
| exon_skip_6823 | 1 | 60132954:60133075:60139710:60139805:60146350:60146667 | 60139710:60139805 | ENSG00000172456.12 | ENST00000466791.1 |
| exon_skip_6826 | 1 | 60132954:60133075:60139710:60139805:60163319:60163412 | 60139710:60139805 | ENSG00000172456.12 | ENST00000430447.1 |
| exon_skip_6828 | 1 | 60132954:60133075:60139710:60139805:60223602:60223664 | 60139710:60139805 | ENSG00000172456.12 | ENST00000371218.4,ENST00000303721.7,ENST00000371212.1,ENST00000371210.1 |
| exon_skip_6833 | 1 | 60132954:60133075:60223602:60223664:60228174:60228216 | 60223602:60223664 | ENSG00000172456.12 | ENST00000493891.1 |
| exon_skip_6840 | 1 | 60139710:60139805:60223602:60223664:60228174:60228216 | 60223602:60223664 | ENSG00000172456.12 | ENST00000371218.4,ENST00000303721.7,ENST00000371212.1,ENST00000371210.1,ENST00000472783.1,ENST00000471169.1 |
| 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 FGGY |
| 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 |
| ENST00000303721 | 59787207 | 59787422 | 5CDS-5UTR |
| ENST00000303721 | 59805629 | 59805741 | Frame-shift |
| ENST00000303721 | 59811918 | 59812070 | Frame-shift |
| ENST00000303721 | 59844420 | 59844509 | Frame-shift |
| ENST00000303721 | 59922632 | 59922748 | Frame-shift |
| ENST00000303721 | 60019795 | 60019899 | Frame-shift |
| ENST00000303721 | 60103899 | 60104047 | Frame-shift |
| ENST00000303721 | 60139710 | 60139805 | Frame-shift |
| ENST00000303721 | 60223602 | 60223664 | Frame-shift |
| ENST00000303721 | 59977982 | 59978111 | In-frame |
| ENST00000303721 | 60073474 | 60073582 | 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 |
| ENST00000303721 | 59787207 | 59787422 | 5CDS-5UTR |
| ENST00000303721 | 59805629 | 59805741 | Frame-shift |
| ENST00000303721 | 59811918 | 59812070 | Frame-shift |
| ENST00000303721 | 59844420 | 59844509 | Frame-shift |
| ENST00000303721 | 59922632 | 59922748 | Frame-shift |
| ENST00000303721 | 60019795 | 60019899 | Frame-shift |
| ENST00000303721 | 60103899 | 60104047 | Frame-shift |
| ENST00000303721 | 60139710 | 60139805 | Frame-shift |
| ENST00000303721 | 60223602 | 60223664 | Frame-shift |
| ENST00000303721 | 59977982 | 59978111 | In-frame |
| ENST00000303721 | 60073474 | 60073582 | In-frame |
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Infer the effects of exon skipping event on protein functional features for FGGY |
| 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 |
| ENST00000303721 | 1993 | 551 | 59977982 | 59978111 | 845 | 973 | 223 | 266 |
| ENST00000303721 | 1993 | 551 | 60073474 | 60073582 | 1078 | 1185 | 301 | 337 |
| 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 |
| ENST00000303721 | 1993 | 551 | 59977982 | 59978111 | 845 | 973 | 223 | 266 |
| ENST00000303721 | 1993 | 551 | 60073474 | 60073582 | 1078 | 1185 | 301 | 337 |
| 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 |
| Q96C11 | 223 | 266 | 1 | 299 | Alternative sequence | ID=VSP_054533;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q96C11 | 223 | 266 | 1 | 551 | Chain | ID=PRO_0000326452;Note=FGGY carbohydrate kinase domain-containing protein |
| Q96C11 | 223 | 266 | 246 | 246 | Natural variant | ID=VAR_059194;Note=L->V;Dbxref=dbSNP:rs11207463 |
| Q96C11 | 301 | 337 | 1 | 551 | Chain | ID=PRO_0000326452;Note=FGGY carbohydrate kinase domain-containing protein |
| 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 |
| Q96C11 | 223 | 266 | 1 | 299 | Alternative sequence | ID=VSP_054533;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q96C11 | 223 | 266 | 1 | 551 | Chain | ID=PRO_0000326452;Note=FGGY carbohydrate kinase domain-containing protein |
| Q96C11 | 223 | 266 | 246 | 246 | Natural variant | ID=VAR_059194;Note=L->V;Dbxref=dbSNP:rs11207463 |
| Q96C11 | 301 | 337 | 1 | 551 | Chain | ID=PRO_0000326452;Note=FGGY carbohydrate kinase domain-containing protein |
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SNVs in the skipped exons for FGGY |
| - 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. |
FGGY_LIHC_exon_skip_6817_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-A3A0-01 | exon_skip_6771 | 59805630 | 59805741 | 59805700 | 59805700 | Frame_Shift_Del | T | - | p.V91fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_6771 | 59805630 | 59805741 | 59805739 | 59805739 | Frame_Shift_Del | A | - | p.E104fs |
| COAD | TCGA-G4-6628-01 | exon_skip_6745 exon_skip_6774 exon_skip_6778 | 59811919 | 59812070 | 59812017 | 59812017 | Frame_Shift_Del | G | - | p.V137fs |
| HNSC | TCGA-F7-A624-01 | exon_skip_6745 exon_skip_6774 exon_skip_6778 | 59811919 | 59812070 | 59812017 | 59812017 | Frame_Shift_Del | G | - | p.G139fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_6745 exon_skip_6774 exon_skip_6778 | 59811919 | 59812070 | 59812017 | 59812017 | Frame_Shift_Del | G | - | p.G139fs |
| STAD | TCGA-BR-4292-01 | exon_skip_6745 exon_skip_6774 exon_skip_6778 | 59811919 | 59812070 | 59812017 | 59812017 | Frame_Shift_Del | G | - | p.V137fs |
| STAD | TCGA-BR-6452-01 | exon_skip_6745 exon_skip_6774 exon_skip_6778 | 59811919 | 59812070 | 59812017 | 59812017 | Frame_Shift_Del | G | - | p.V137fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_6790 | 60019796 | 60019899 | 60019839 | 60019839 | Frame_Shift_Del | G | - | p.E281fs |
| KIRP | TCGA-A4-A5Y1-01 | exon_skip_6790 | 60019796 | 60019899 | 60019871 | 60019884 | Frame_Shift_Del | TCTGTGGAACGTCT | - | p.204_208del |
| KIRP | TCGA-A4-A5Y1-01 | exon_skip_6790 | 60019796 | 60019899 | 60019871 | 60019884 | Frame_Shift_Del | TCTGTGGAACGTCT | - | p.292_296del |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_6790 | 60019796 | 60019899 | 60019896 | 60019896 | Frame_Shift_Del | G | - | p.M300fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_6802 | 60073475 | 60073582 | 60073514 | 60073514 | Frame_Shift_Del | C | - | p.P315fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_6817 | 60132955 | 60133075 | 60133046 | 60133046 | Frame_Shift_Del | T | - | p.L487fs |
| COAD | TCGA-AZ-6598-01 | exon_skip_6745 exon_skip_6774 exon_skip_6778 | 59811919 | 59812070 | 59812016 | 59812017 | Frame_Shift_Ins | - | G | p.V137fs |
| HNSC | TCGA-BA-4077-01 | exon_skip_6745 exon_skip_6774 exon_skip_6778 | 59811919 | 59812070 | 59812016 | 59812017 | Frame_Shift_Ins | - | G | p.V137fs |
| HNSC | TCGA-BA-4077-01 | exon_skip_6745 exon_skip_6774 exon_skip_6778 | 59811919 | 59812070 | 59812016 | 59812017 | Frame_Shift_Ins | - | G | p.VG137fs |
| KIRC | TCGA-A3-3308-01 | exon_skip_6745 exon_skip_6774 exon_skip_6778 | 59811919 | 59812070 | 59812016 | 59812017 | Frame_Shift_Ins | - | G | p.VG137fs |
| KIRC | TCGA-A3-3316-01 | exon_skip_6745 exon_skip_6774 exon_skip_6778 | 59811919 | 59812070 | 59812016 | 59812017 | Frame_Shift_Ins | - | G | p.VG137fs |
| KIRC | TCGA-A3-3365-01 | exon_skip_6745 exon_skip_6774 exon_skip_6778 | 59811919 | 59812070 | 59812016 | 59812017 | Frame_Shift_Ins | - | G | p.VG137fs |
| KIRC | TCGA-A3-3372-01 | exon_skip_6745 exon_skip_6774 exon_skip_6778 | 59811919 | 59812070 | 59812016 | 59812017 | Frame_Shift_Ins | - | G | p.VG137fs |
| KIRC | TCGA-A3-3374-01 | exon_skip_6745 exon_skip_6774 exon_skip_6778 | 59811919 | 59812070 | 59812016 | 59812017 | Frame_Shift_Ins | - | G | p.VG137fs |
| KIRC | TCGA-A3-3378-01 | exon_skip_6745 exon_skip_6774 exon_skip_6778 | 59811919 | 59812070 | 59812016 | 59812017 | Frame_Shift_Ins | - | G | p.VG137fs |
| KIRC | TCGA-A3-3380-01 | exon_skip_6745 exon_skip_6774 exon_skip_6778 | 59811919 | 59812070 | 59812016 | 59812017 | Frame_Shift_Ins | - | G | p.VG137fs |
| KIRC | TCGA-A3-3383-01 | exon_skip_6745 exon_skip_6774 exon_skip_6778 | 59811919 | 59812070 | 59812016 | 59812017 | Frame_Shift_Ins | - | G | p.VG137fs |
| KIRC | TCGA-AK-3427-01 | exon_skip_6745 exon_skip_6774 exon_skip_6778 | 59811919 | 59812070 | 59812016 | 59812017 | Frame_Shift_Ins | - | G | p.VG137fs |
| KIRC | TCGA-AK-3443-01 | exon_skip_6745 exon_skip_6774 exon_skip_6778 | 59811919 | 59812070 | 59812016 | 59812017 | Frame_Shift_Ins | - | G | p.VG137fs |
| KIRC | TCGA-AK-3444-01 | exon_skip_6745 exon_skip_6774 exon_skip_6778 | 59811919 | 59812070 | 59812016 | 59812017 | Frame_Shift_Ins | - | G | p.VG137fs |
| LUAD | TCGA-35-3615-01 | exon_skip_6745 exon_skip_6774 exon_skip_6778 | 59811919 | 59812070 | 59812016 | 59812017 | Frame_Shift_Ins | - | G | p.VG137fs |
| LUAD | TCGA-44-2655-01 | exon_skip_6745 exon_skip_6774 exon_skip_6778 | 59811919 | 59812070 | 59812016 | 59812017 | Frame_Shift_Ins | - | G | p.VG137fs |
| LUAD | TCGA-44-2656-01 | exon_skip_6745 exon_skip_6774 exon_skip_6778 | 59811919 | 59812070 | 59812016 | 59812017 | Frame_Shift_Ins | - | G | p.V137fs |
| LUAD | TCGA-44-2659-01 | exon_skip_6745 exon_skip_6774 exon_skip_6778 | 59811919 | 59812070 | 59812016 | 59812017 | Frame_Shift_Ins | - | G | p.VG137fs |
| LUAD | TCGA-44-2662-01 | exon_skip_6745 exon_skip_6774 exon_skip_6778 | 59811919 | 59812070 | 59812016 | 59812017 | Frame_Shift_Ins | - | G | p.VG137fs |
| LUAD | TCGA-55-1592-01 | exon_skip_6745 exon_skip_6774 exon_skip_6778 | 59811919 | 59812070 | 59812016 | 59812017 | Frame_Shift_Ins | - | G | p.VG137fs |
| LUAD | TCGA-55-1596-01 | exon_skip_6745 exon_skip_6774 exon_skip_6778 | 59811919 | 59812070 | 59812016 | 59812017 | Frame_Shift_Ins | - | G | p.VG137fs |
| LUAD | TCGA-64-1676-01 | exon_skip_6745 exon_skip_6774 exon_skip_6778 | 59811919 | 59812070 | 59812016 | 59812017 | Frame_Shift_Ins | - | G | p.VG137fs |
| LUAD | TCGA-64-1678-01 | exon_skip_6745 exon_skip_6774 exon_skip_6778 | 59811919 | 59812070 | 59812016 | 59812017 | Frame_Shift_Ins | - | G | p.V137fs |
| LUAD | TCGA-64-1678-01 | exon_skip_6745 exon_skip_6774 exon_skip_6778 | 59811919 | 59812070 | 59812016 | 59812017 | Frame_Shift_Ins | - | G | p.VG137fs |
| STAD | TCGA-IN-A6RR-01 | exon_skip_6745 exon_skip_6774 exon_skip_6778 | 59811919 | 59812070 | 59812016 | 59812017 | Frame_Shift_Ins | - | G | p.V137fs |
| UCEC | TCGA-B5-A0K2-01 | exon_skip_6745 exon_skip_6774 exon_skip_6778 | 59811919 | 59812070 | 59812016 | 59812017 | Frame_Shift_Ins | - | G | p.V137fs |
| STAD | TCGA-BR-4280-01 | exon_skip_6745 exon_skip_6774 exon_skip_6778 | 59811919 | 59812070 | 59812017 | 59812018 | Frame_Shift_Ins | - | G | p.V137fs |
| STAD | TCGA-BR-8363-01 | exon_skip_6745 exon_skip_6774 exon_skip_6778 | 59811919 | 59812070 | 59812017 | 59812018 | Frame_Shift_Ins | - | G | p.V137fs |
| STAD | TCGA-CG-4444-01 | exon_skip_6745 exon_skip_6774 exon_skip_6778 | 59811919 | 59812070 | 59812017 | 59812018 | Frame_Shift_Ins | - | G | p.V137fs |
| GBM | TCGA-27-1830-01 | exon_skip_6771 | 59805630 | 59805741 | 59805657 | 59805657 | Nonsense_Mutation | C | T | p.Q77* |
| SKCM | TCGA-EE-A2MD-06 | exon_skip_6771 | 59805630 | 59805741 | 59805663 | 59805663 | Nonsense_Mutation | C | T | p.R79* |
| SKCM | TCGA-EE-A2MD-06 | exon_skip_6771 | 59805630 | 59805741 | 59805663 | 59805663 | Nonsense_Mutation | C | T | p.R79X |
| STAD | TCGA-BR-4280-01 | exon_skip_6745 exon_skip_6774 exon_skip_6778 | 59811919 | 59812070 | 59811947 | 59811947 | Nonsense_Mutation | G | A | p.W114* |
| STAD | TCGA-BR-4280-01 | exon_skip_6745 exon_skip_6774 exon_skip_6778 | 59811919 | 59812070 | 59811947 | 59811947 | Nonsense_Mutation | G | A | p.W114X |
| ESCA | TCGA-Q9-A6FW-01 | exon_skip_6823 exon_skip_6828 exon_skip_6826 | 60139711 | 60139805 | 60139734 | 60139734 | Nonsense_Mutation | G | T | p.E481* |
| ESCA | TCGA-Q9-A6FW-01 | exon_skip_6823 exon_skip_6828 exon_skip_6826 | 60139711 | 60139805 | 60139734 | 60139734 | Nonsense_Mutation | G | T | p.E505* |
| ESCA | TCGA-Q9-A6FW-01 | exon_skip_6823 exon_skip_6828 exon_skip_6826 | 60139711 | 60139805 | 60139734 | 60139734 | Nonsense_Mutation | G | T | p.E505X |
| UCEC | TCGA-D1-A17Q-01 | exon_skip_6786 exon_skip_6785 | 59922633 | 59922748 | 59922632 | 59922632 | Splice_Site | G | T | e5-1 |
| KIRP | TCGA-BQ-5892-01 | exon_skip_6823 exon_skip_6828 exon_skip_6826 | 60139711 | 60139805 | 60139806 | 60139806 | Splice_Site | G | C | . |
| DLBC | TCGA-FA-8693-01 | exon_skip_6833 exon_skip_6840 | 60223603 | 60223664 | 60223665 | 60223665 | Splice_Site | G | T | . |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-DD-A39Y-01 |
| Cancer type: LIHC | |
| ESID: exon_skip_6817 | |
| Skipped exon start: 60132955 | |
| Skipped exon end: 60133075 | |
| Mutation start: 60133046 | |
| Mutation end: 60133046 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: T | |
| Mutation seq: - | |
| AAchange: p.L487fs | |
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| - 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 |
| MDAPCA2B_PROSTATE | 59811919 | 59812070 | 59812017 | 59812017 | Frame_Shift_Del | G | - | p.G139fs |
| GP2D_LARGE_INTESTINE | 59811919 | 59812070 | 59812017 | 59812017 | Frame_Shift_Del | G | - | p.G139fs |
| LS180_LARGE_INTESTINE | 59811919 | 59812070 | 59812017 | 59812017 | Frame_Shift_Del | G | - | p.G139fs |
| GP5D_LARGE_INTESTINE | 59811919 | 59812070 | 59812017 | 59812017 | Frame_Shift_Del | G | - | p.G139fs |
| CW2_LARGE_INTESTINE | 60223603 | 60223664 | 60223659 | 60223660 | Frame_Shift_Ins | - | A | p.K524fs |
| HEC251_ENDOMETRIUM | 59787208 | 59787422 | 59787239 | 59787239 | Missense_Mutation | G | T | p.Q6H |
| SNUC5_LARGE_INTESTINE | 59787208 | 59787422 | 59787252 | 59787252 | Missense_Mutation | T | C | p.Y11H |
| GCT_SOFT_TISSUE | 59787208 | 59787422 | 59787354 | 59787354 | Missense_Mutation | G | A | p.E45K |
| CORL279_LUNG | 59787208 | 59787422 | 59787395 | 59787395 | Missense_Mutation | C | G | p.I58M |
| HEC59_ENDOMETRIUM | 59805630 | 59805741 | 59805637 | 59805637 | Missense_Mutation | T | C | p.V70A |
| NCIH1355_LUNG | 59805630 | 59805741 | 59805649 | 59805649 | Missense_Mutation | A | T | p.D74V |
| NCIBL2122_MATCHED_NORMAL_TISSUE | 59805630 | 59805741 | 59805727 | 59805727 | Missense_Mutation | C | T | p.P100L |
| HS870T_FIBROBLAST | 59811919 | 59812070 | 59811928 | 59811928 | Missense_Mutation | A | G | p.H108R |
| SW684_SOFT_TISSUE | 59811919 | 59812070 | 59811958 | 59811958 | Missense_Mutation | G | A | p.R118Q |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 59811919 | 59812070 | 59811977 | 59811977 | Missense_Mutation | C | G | p.N124K |
| SNU478_BILIARY_TRACT | 59844421 | 59844509 | 59844452 | 59844452 | Missense_Mutation | G | T | p.G166V |
| NCIH835_LUNG | 59844421 | 59844509 | 59844472 | 59844472 | Missense_Mutation | G | A | p.D173N |
| MEWO_SKIN | 59844421 | 59844509 | 59844482 | 59844482 | Missense_Mutation | C | T | p.S176L |
| CW2_LARGE_INTESTINE | 59844421 | 59844509 | 59844490 | 59844490 | Missense_Mutation | G | T | p.A179S |
| HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 59922633 | 59922748 | 59922661 | 59922661 | Missense_Mutation | A | G | p.T195A |
| KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 59922633 | 59922748 | 59922679 | 59922679 | Missense_Mutation | G | A | p.G201S |
| SQ1_LUNG | 59922633 | 59922748 | 59922679 | 59922679 | Missense_Mutation | G | A | p.G201S |
| KMRC20_KIDNEY | 59922633 | 59922748 | 59922679 | 59922679 | Missense_Mutation | G | A | p.G201S |
| MFHINO_SOFT_TISSUE | 59922633 | 59922748 | 59922679 | 59922679 | Missense_Mutation | G | A | p.G201S |
| P32ISH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 59922633 | 59922748 | 59922679 | 59922679 | Missense_Mutation | G | A | p.G201S |
| SKN3_UPPER_AERODIGESTIVE_TRACT | 59922633 | 59922748 | 59922679 | 59922679 | Missense_Mutation | G | A | p.G201S |
| A2058_SKIN | 59922633 | 59922748 | 59922691 | 59922691 | Missense_Mutation | A | T | p.S205C |
| DOV13_OVARY | 59922633 | 59922748 | 59922705 | 59922705 | Missense_Mutation | G | T | p.M209I |
| NCIH2286_LUNG | 59977983 | 59978111 | 59978015 | 59978016 | Missense_Mutation | GG | TT | p.G235L |
| NCIH2286_LUNG | 59977983 | 59978111 | 59978016 | 59978016 | Missense_Mutation | G | T | p.G235V |
| NCIH358_LUNG | 59977983 | 59978111 | 59978071 | 59978072 | Missense_Mutation | GG | TT | p.V254F |
| NCIH358_LUNG | 59977983 | 59978111 | 59978072 | 59978072 | Missense_Mutation | G | T | p.V254F |
| C33A_CERVIX | 59977983 | 59978111 | 59978075 | 59978075 | Missense_Mutation | G | A | p.A255T |
| RCHACV_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 59977983 | 59978111 | 59978075 | 59978075 | Missense_Mutation | G | A | p.A255T |
| HEC1_ENDOMETRIUM | 60019796 | 60019899 | 60019864 | 60019864 | Missense_Mutation | G | A | p.A290T |
| DIFI_LARGE_INTESTINE | 60019796 | 60019899 | 60019891 | 60019891 | Missense_Mutation | C | T | p.H299Y |
| RPMI8866_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 60019796 | 60019899 | 60019897 | 60019897 | Missense_Mutation | G | A | p.G301R |
| OE21_OESOPHAGUS | 60073475 | 60073582 | 60073511 | 60073511 | Missense_Mutation | G | A | p.G314R |
| SNU869_BILIARY_TRACT | 60073475 | 60073582 | 60073527 | 60073527 | Missense_Mutation | C | T | p.A319V |
| NCIH835_LUNG | 60103900 | 60104047 | 60103919 | 60103919 | Missense_Mutation | T | C | p.Y365H |
| HCC1569_BREAST | 60103900 | 60104047 | 60103952 | 60103952 | Missense_Mutation | G | A | p.A376T |
| CORL279_LUNG | 60103900 | 60104047 | 60104012 | 60104012 | Missense_Mutation | C | T | p.R396W |
| KYSE150_OESOPHAGUS | 60103900 | 60104047 | 60104034 | 60104034 | Missense_Mutation | C | T | p.T403I |
| KYSE140_OESOPHAGUS | 60103900 | 60104047 | 60104036 | 60104036 | Missense_Mutation | C | G | p.L404V |
| SNU1272_KIDNEY | 60132955 | 60133075 | 60132961 | 60132961 | Missense_Mutation | A | G | p.T435A |
| MFE319_ENDOMETRIUM | 60139711 | 60139805 | 60139776 | 60139776 | Missense_Mutation | T | C | p.C495R |
| OV7_OVARY | 60139711 | 60139805 | 60139785 | 60139785 | Missense_Mutation | G | C | p.G498R |
| RKO_LARGE_INTESTINE | 60223603 | 60223664 | 60223612 | 60223612 | Missense_Mutation | G | A | p.A508T |
| NCIH2286_LUNG | 59977983 | 59978111 | 59978015 | 59978015 | Nonsense_Mutation | G | T | p.G235* |
| MEWO_SKIN | 60073475 | 60073582 | 60073519 | 60073519 | Nonsense_Mutation | T | A | p.Y316* |
| A549_LUNG | 60019796 | 60019899 | 60019796 | 60019796 | Splice_Site | G | C | p.G267A |
| HCC2450_LUNG | 60103900 | 60104047 | 60103901 | 60103901 | Splice_Site | T | A | p.C359S |
| PL21_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 60132955 | 60133075 | 60133075 | 60133075 | Splice_Site | G | A | p.G473S |
| OSRC2_KIDNEY | 60132955 | 60133075 | 60133075 | 60133075 | Splice_Site | G | A | p.G473S |
| SNU81_LARGE_INTESTINE | 60132955 | 60133075 | 60133075 | 60133075 | Splice_Site | G | A | p.G473S |
| KMH2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 60132955 | 60133075 | 60133075 | 60133075 | Splice_Site | G | A | p.G473S |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for FGGY |
| 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 |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for FGGY |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for FGGY |
Top |
RelatedDrugs for FGGY |
| 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 |
Top |
RelatedDiseases for FGGY |
| 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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