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![]() | Open reading frame (ORF) annotation in the exon skipping event |
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![]() | 3'-UTR located exon skipping events lost miRNA binding sites |
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![]() | Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for GYG1 |
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Gene information | Gene symbol | GYG1 | Gene ID | 2992 |
Gene name | glycogenin 1 | |
Synonyms | GSD15|GYG | |
Cytomap | 3q24 | |
Type of gene | protein-coding | |
Description | glycogenin-1GN-1glycogenin glucosyltransferase | |
Modification date | 20200313 | |
UniProtAcc | ||
Context |
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Gene | GO ID | GO term | PubMed ID |
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Gene structures and expression levels for GYG1 |
![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
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Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
CB | DOWN | ENST00000484197.5 | GYG1-210:protein_coding:GYG1 | 1.272110e+02 | -1.546298e+00 | 6.385929e-09 | 2.065778e-07 |
TC | DOWN | ENST00000484197.5 | GYG1-210:protein_coding:GYG1 | 7.302570e+01 | -1.876516e+00 | 1.391384e-08 | 1.188040e-06 |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for GYG1 |
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Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
exon_skip_121214 | chr3 | 149024151:149024272:149026452:149026502:149026760:149027347 | 149026452:149026502 |
exon_skip_138006 | chr3 | 149024053:149024272:149026452:149026502:149026760:149026826 | 149026452:149026502 |
exon_skip_14230 | chr3 | 149024053:149024272:149026452:149026502:149026760:149027347 | 149026452:149026502 |
exon_skip_142475 | chr3 | 148996831:148996904:149003953:149003998:149009276:149009389 | 149003953:149003998 |
exon_skip_168218 | chr3 | 148996831:148996904:149009276:149009402:149024053:149024234 | 149009276:149009402 |
exon_skip_208244 | chr3 | 148991572:148991647:148994142:148994277:148996302:148996427 | 148994142:148994277 |
exon_skip_219966 | chr3 | 149009276:149009402:149024053:149024272:149026760:149026827 | 149024053:149024272 |
exon_skip_226329 | chr3 | 149024053:149024272:149026452:149026502:149026760:149026827 | 149026452:149026502 |
exon_skip_231921 | chr3 | 149009276:149009402:149024053:149024272:149026760:149026826 | 149024053:149024272 |
exon_skip_633 | chr3 | 148996742:148996892:149009276:149009402:149024053:149024255 | 149009276:149009402 |
exon_skip_71527 | chr3 | 148991568:148991647:148992658:148992772:148994142:148994277 | 148992658:148992772 |
exon_skip_87076 | chr3 | 148996831:148996904:149009276:149009402:149026760:149027347 | 149009276:149009402 |
exon_skip_93521 | chr3 | 149009276:149009402:149024053:149024272:149026760:149027347 | 149024053:149024272 |
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Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
exon_skip_14230 | MSBB_PG | 1.578814e-01 | 2.763265e-01 | -1.184452e-01 | 2.162988e-02 |
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Open reading frame (ORF) annotation in the exon skipping event for GYG1 |
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ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000345003 | 149009276 | 149009402 | Frame-shift |
ENST00000345003 | 149026452 | 149026502 | In-frame |
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ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000345003 | 149026452 | 149026502 | In-frame |
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ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000345003 | 149009276 | 149009402 | Frame-shift |
ENST00000345003 | 149026452 | 149026502 | In-frame |
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Infer the effects of exon skipping event on protein functional features for GYG1 |
p-ENSG00000163754_img4.png![]() |
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ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
ENST00000345003 | 2069 | 350 | 149026452 | 149026502 | 1130 | 1179 | 276 | 293 |
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ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
ENST00000345003 | 2069 | 350 | 149026452 | 149026502 | 1130 | 1179 | 276 | 293 |
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ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
ENST00000345003 | 2069 | 350 | 149026452 | 149026502 | 1130 | 1179 | 276 | 293 |
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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 |
P46976 | 276 | 293 | 204 | 350 | Alternative sequence | ID=VSP_001768;Note=In isoform GN-1S. FGASAKVVHFLGRVKPWNYTYDPKTKSVKSEAHDPNMTHPEFLILWWNIFTTNVLPLLQQFGLVKDTCSYVNVLSDLVYTLAFSCGFCRKEDVSGAISHLSLGEIPAMAQPFVSSEERKERWEQGQADYMGADSFDNIKRKLDTYLQ->KMSQEPYHICPLGRSQLWHSRLYPRKNGRNDGNRARLIIWEQIPLTTSRGNLTLTSSRNTAFFCEHIHF |
P46976 | 276 | 293 | 277 | 293 | Alternative sequence | ID=VSP_001769;Note=In isoform GN-1. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:8602861,ECO:0000303|PubMed:8661012,ECO:0000303|Ref.6;Dbxref=PMID:15489334,PMID:8602861,PMID:8 |
P46976 | 276 | 293 | 2 | 350 | Chain | ID=PRO_0000215176;Note=Glycogenin-1;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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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 |
P46976 | 276 | 293 | 204 | 350 | Alternative sequence | ID=VSP_001768;Note=In isoform GN-1S. FGASAKVVHFLGRVKPWNYTYDPKTKSVKSEAHDPNMTHPEFLILWWNIFTTNVLPLLQQFGLVKDTCSYVNVLSDLVYTLAFSCGFCRKEDVSGAISHLSLGEIPAMAQPFVSSEERKERWEQGQADYMGADSFDNIKRKLDTYLQ->KMSQEPYHICPLGRSQLWHSRLYPRKNGRNDGNRARLIIWEQIPLTTSRGNLTLTSSRNTAFFCEHIHF |
P46976 | 276 | 293 | 277 | 293 | Alternative sequence | ID=VSP_001769;Note=In isoform GN-1. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:8602861,ECO:0000303|PubMed:8661012,ECO:0000303|Ref.6;Dbxref=PMID:15489334,PMID:8602861,PMID:8 |
P46976 | 276 | 293 | 2 | 350 | Chain | ID=PRO_0000215176;Note=Glycogenin-1;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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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 |
P46976 | 276 | 293 | 204 | 350 | Alternative sequence | ID=VSP_001768;Note=In isoform GN-1S. FGASAKVVHFLGRVKPWNYTYDPKTKSVKSEAHDPNMTHPEFLILWWNIFTTNVLPLLQQFGLVKDTCSYVNVLSDLVYTLAFSCGFCRKEDVSGAISHLSLGEIPAMAQPFVSSEERKERWEQGQADYMGADSFDNIKRKLDTYLQ->KMSQEPYHICPLGRSQLWHSRLYPRKNGRNDGNRARLIIWEQIPLTTSRGNLTLTSSRNTAFFCEHIHF |
P46976 | 276 | 293 | 277 | 293 | Alternative sequence | ID=VSP_001769;Note=In isoform GN-1. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:8602861,ECO:0000303|PubMed:8661012,ECO:0000303|Ref.6;Dbxref=PMID:15489334,PMID:8602861,PMID:8 |
P46976 | 276 | 293 | 2 | 350 | Chain | ID=PRO_0000215176;Note=Glycogenin-1;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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3'-UTR located exon skipping events that lost miRNA binding sites in GYG1 |
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Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
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SNVs in the skipped exons for GYG1 |
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Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
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Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
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AD stage-associated exon skippint events for GYG1 |
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AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for GYG1 |
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Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for GYG1 |
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Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
CB | UNK | exon_skip_121214 | 4.680248e-01 | 4.952476e-10 |
CB | NUP42 | exon_skip_121214 | 6.607134e-01 | 2.645134e-21 |
CB | RALYL | exon_skip_121214 | 5.543216e-01 | 3.449325e-14 |
FL | MSI1 | exon_skip_14230 | -4.570624e-01 | 8.823436e-11 |
FL | PUF60 | exon_skip_14230 | 4.046736e-01 | 1.461867e-08 |
FL | RALYL | exon_skip_14230 | 5.963604e-01 | 6.534211e-19 |
FL | PTBP1 | exon_skip_14230 | -4.295801e-01 | 1.435377e-09 |
HCC | MSI1 | exon_skip_14230 | -6.160406e-01 | 6.438991e-30 |
HCC | RBM5 | exon_skip_14230 | -6.033899e-01 | 1.831558e-28 |
HCC | UNK | exon_skip_14230 | -5.347061e-01 | 1.369396e-21 |
HCC | PTBP1 | exon_skip_14230 | -6.971390e-01 | 4.734258e-41 |
IFG | RALYL | exon_skip_14230 | 4.020283e-01 | 3.394246e-02 |
IFG | PTBP1 | exon_skip_14230 | -4.277103e-01 | 2.318411e-02 |
PCC | RALYL | exon_skip_14230 | 5.607551e-01 | 4.032394e-19 |
PCC | PTBP1 | exon_skip_14230 | -6.659173e-01 | 8.631989e-29 |
PG | MSI1 | exon_skip_14230 | -4.611959e-01 | 3.556315e-10 |
PG | MBNL1 | exon_skip_14230 | 4.096871e-01 | 3.845352e-08 |
PG | PUF60 | exon_skip_14230 | 4.317181e-01 | 5.706905e-09 |
PG | RALYL | exon_skip_14230 | 6.886890e-01 | 8.185931e-25 |
PG | PTBP1 | exon_skip_14230 | -4.632645e-01 | 2.897476e-10 |
STG | RALYL | exon_skip_14230 | 5.713575e-01 | 8.632936e-08 |
STG | PTBP1 | exon_skip_14230 | -5.135465e-01 | 2.455572e-06 |
TC | MSI1 | exon_skip_226329 | -4.631171e-01 | 6.987698e-10 |
TC | MBNL1 | exon_skip_226329 | 4.117234e-01 | 6.339639e-08 |
TC | NUP42 | exon_skip_226329 | 7.164900e-01 | 1.712948e-26 |
TC | RALYL | exon_skip_226329 | 8.754273e-01 | 9.380131e-52 |
TC | PTBP1 | exon_skip_226329 | -4.474067e-01 | 3.003825e-09 |
TC | PTBP3 | exon_skip_226329 | 4.463318e-01 | 3.310121e-09 |
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RelatedDrugs for GYG1 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for GYG1 |
![]() (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |