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Open reading frame (ORF) annotation in the exon skipping event | |
3'-UTR located exon skipping events lost miRNA binding sites | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Gene summary for GNAS |
Gene summary |
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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Gene structures and expression levels for GNAS |
Skipped exons in the ROSMAP, MSBB, and Mayo 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. |
Differentially expressed gene analysis across multiple brain tissues between AD and control. |
Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
PCC | UP | ENST00000487862.5 | GNAS-245:retained_intron:GNAS | 1.213045e+02 | 8.890634e-01 | 1.084871e-07 | 5.526782e-05 |
STG | UP | ENST00000371095.7 | GNAS-211:protein_coding:GNAS | 1.257205e+02 | 9.973467e-01 | 2.697134e-05 | 5.122554e-03 |
PG | UP | ENST00000371095.7 | GNAS-211:protein_coding:GNAS | 1.188436e+02 | 9.135666e-01 | 2.833531e-05 | 1.081701e-03 |
CB | UP | ENST00000265620.11 | GNAS-201:protein_coding:GNAS | 2.739276e+03 | 1.022666e+00 | 8.095666e-16 | 4.933452e-13 |
CB | UP | ENST00000485673.5 | GNAS-244:protein_coding:GNAS | 3.334045e+01 | 8.036071e-01 | 3.657115e-11 | 2.767654e-09 |
CB | UP | ENST00000478585.5 | GNAS-235:protein_coding:GNAS | 4.114573e+00 | 1.158592e+00 | 2.014162e-07 | 3.841661e-06 |
CB | UP | ENST00000476935.5 | GNAS-233:protein_coding:GNAS | 3.214437e+01 | 1.135579e+00 | 4.693341e-05 | 3.898658e-04 |
CB | UP | ENST00000450130.5 | GNAS-218:protein_coding:GNAS | 1.344592e+00 | 1.617708e+00 | 7.264720e-04 | 3.949237e-03 |
TC | UP | ENST00000478585.5 | GNAS-235:protein_coding:GNAS | 3.623833e+00 | 8.361064e-01 | 2.706532e-04 | 3.551462e-03 |
Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for GNAS |
Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
All exon skipping events in AD cohorts. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
exon_skip_121442 | chr20 | 58889227:58889353:58889526:58889549:58895612:58895684 | 58889526:58889549 |
exon_skip_128380 | chr20 | 58909521:58909579:58909684:58909804:58909951:58909970 | 58909684:58909804 |
exon_skip_132782 | chr20 | 58895664:58895684:58898941:58898985:58903528:58903543 | 58898941:58898985 |
exon_skip_144003 | chr20 | 58895664:58895684:58898941:58898985:58903531:58903556 | 58898941:58898985 |
exon_skip_146696 | chr20 | 58895612:58895684:58898941:58898985:58899949:58899968 | 58898941:58898985 |
exon_skip_147597 | chr20 | 58895621:58895684:58898941:58898985:58899949:58900030 | 58898941:58898985 |
exon_skip_150697 | chr20 | 58895612:58895684:58898941:58898985:58903531:58903538 | 58898941:58898985 |
exon_skip_150988 | chr20 | 58898963:58898985:58899949:58900030:58903531:58903585 | 58899949:58900030 |
exon_skip_169502 | chr20 | 58895612:58895684:58903528:58903585:58903672:58903774 | 58903528:58903585 |
exon_skip_172613 | chr20 | 58909767:58909804:58909951:58910081:58910334:58910365 | 58909951:58910081 |
exon_skip_175133 | chr20 | 58853263:58855333:58891582:58891865:58895612:58895684 | 58891582:58891865 |
exon_skip_177647 | chr20 | 58903537:58903585:58903672:58903791:58905383:58905420 | 58903672:58903791 |
exon_skip_183238 | chr20 | 58898941:58898985:58899949:58900030:58903531:58903538 | 58899949:58900030 |
exon_skip_191 | chr20 | 58895612:58895684:58898941:58898985:58899949:58900410 | 58898941:58898985 |
exon_skip_212114 | chr20 | 58909951:58910081:58910334:58910401:58910683:58910781 | 58910334:58910401 |
exon_skip_229202 | chr20 | 58909521:58909579:58909684:58909804:58909951:58909974 | 58909684:58909804 |
exon_skip_244323 | chr20 | 58891760:58891865:58895612:58895684:58903531:58903556 | 58895612:58895684 |
exon_skip_246461 | chr20 | 58895612:58895684:58898941:58898985:58899949:58900030 | 58898941:58898985 |
exon_skip_285264 | chr20 | 58898963:58898985:58899949:58900030:58903531:58903556 | 58899949:58900030 |
exon_skip_291039 | chr20 | 58898941:58898985:58899949:58900030:58903531:58903556 | 58899949:58900030 |
exon_skip_29970 | chr20 | 58898941:58898985:58899949:58900030:58903531:58903585 | 58899949:58900030 |
exon_skip_46440 | chr20 | 58903571:58903585:58903672:58903791:58905383:58905420 | 58903672:58903791 |
exon_skip_65827 | chr20 | 58895621:58895684:58898941:58898985:58903528:58903543 | 58898941:58898985 |
exon_skip_72207 | chr20 | 58895612:58895684:58898941:58898985:58903528:58903543 | 58898941:58898985 |
exon_skip_7247 | chr20 | 58898942:58898985:58899949:58900030:58903531:58903556 | 58899949:58900030 |
exon_skip_88707 | chr20 | 58895612:58895684:58898941:58898985:58903531:58903556 | 58898941:58898985 |
exon_skip_90110 | chr20 | 58895612:58895684:58903531:58903585:58903672:58903774 | 58903531:58903585 |
Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
exon_skip_72207 | ROSMAP_PCC | 5.954615e-01 | 7.042353e-01 | -1.087738e-01 | 6.779931e-05 |
exon_skip_72207 | MSBB_STG | 6.097101e-01 | 7.241667e-01 | -1.144565e-01 | 2.935508e-02 |
exon_skip_72207 | MSBB_PG | 4.846528e-01 | 6.603509e-01 | -1.756981e-01 | 8.313138e-07 |
exon_skip_72207 | Mayo_CB | 2.317073e-01 | 3.416883e-01 | -1.099810e-01 | 1.964847e-06 |
exon_skip_88707 | Mayo_CB | 7.043902e-01 | 8.253247e-01 | -1.209344e-01 | 5.518819e-07 |
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Open reading frame (ORF) annotation in the exon skipping event for GNAS |
Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000313949 | 58898941 | 58898985 | 3UTR-3UTR |
ENST00000371075 | 58898941 | 58898985 | 3UTR-3UTR |
ENST00000371098 | 58898941 | 58898985 | 3UTR-3UTR |
ENST00000313949 | 58903672 | 58903791 | 3UTR-3UTR |
ENST00000371075 | 58903672 | 58903791 | 3UTR-3UTR |
ENST00000313949 | 58909684 | 58909804 | 3UTR-3UTR |
ENST00000371075 | 58909684 | 58909804 | 3UTR-3UTR |
ENST00000313949 | 58910334 | 58910401 | 3UTR-3UTR |
ENST00000371075 | 58910334 | 58910401 | 3UTR-3UTR |
ENST00000371085 | 58909684 | 58909804 | Frame-shift |
ENST00000371100 | 58909684 | 58909804 | Frame-shift |
ENST00000371085 | 58910334 | 58910401 | Frame-shift |
ENST00000371100 | 58910334 | 58910401 | Frame-shift |
ENST00000371085 | 58898941 | 58898985 | In-frame |
ENST00000371100 | 58898941 | 58898985 | In-frame |
ENST00000371085 | 58903672 | 58903791 | In-frame |
ENST00000371100 | 58903672 | 58903791 | In-frame |
Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000313949 | 58898941 | 58898985 | 3UTR-3UTR |
ENST00000371075 | 58898941 | 58898985 | 3UTR-3UTR |
ENST00000371098 | 58898941 | 58898985 | 3UTR-3UTR |
ENST00000371085 | 58898941 | 58898985 | In-frame |
ENST00000371100 | 58898941 | 58898985 | In-frame |
Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000313949 | 58898941 | 58898985 | 3UTR-3UTR |
ENST00000371075 | 58898941 | 58898985 | 3UTR-3UTR |
ENST00000371098 | 58898941 | 58898985 | 3UTR-3UTR |
ENST00000313949 | 58903672 | 58903791 | 3UTR-3UTR |
ENST00000371075 | 58903672 | 58903791 | 3UTR-3UTR |
ENST00000313949 | 58909684 | 58909804 | 3UTR-3UTR |
ENST00000371075 | 58909684 | 58909804 | 3UTR-3UTR |
ENST00000313949 | 58909951 | 58910081 | 3UTR-3UTR |
ENST00000371075 | 58909951 | 58910081 | 3UTR-3UTR |
ENST00000313949 | 58910334 | 58910401 | 3UTR-3UTR |
ENST00000371075 | 58910334 | 58910401 | 3UTR-3UTR |
ENST00000371085 | 58909684 | 58909804 | Frame-shift |
ENST00000371100 | 58909684 | 58909804 | Frame-shift |
ENST00000371085 | 58909951 | 58910081 | Frame-shift |
ENST00000371100 | 58909951 | 58910081 | Frame-shift |
ENST00000371085 | 58910334 | 58910401 | Frame-shift |
ENST00000371100 | 58910334 | 58910401 | Frame-shift |
ENST00000371085 | 58898941 | 58898985 | In-frame |
ENST00000371100 | 58898941 | 58898985 | In-frame |
ENST00000371085 | 58903672 | 58903791 | In-frame |
ENST00000371100 | 58903672 | 58903791 | In-frame |
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Infer the effects of exon skipping event on protein functional features for GNAS |
p-ENSG00000087460_img4.png |
Loci of skipped exons in ROSMAP 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 |
ENST00000371100 | 4046 | 1037 | 58898941 | 58898985 | 2695 | 2738 | 714 | 728 |
ENST00000371100 | 4046 | 1037 | 58903672 | 58903791 | 2795 | 2913 | 747 | 787 |
Loci of skipped exons in MSBB 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 |
ENST00000371100 | 4046 | 1037 | 58898941 | 58898985 | 2695 | 2738 | 714 | 728 |
Loci of skipped exons in Mayo 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 |
ENST00000371100 | 4046 | 1037 | 58898941 | 58898985 | 2695 | 2738 | 714 | 728 |
ENST00000371100 | 4046 | 1037 | 58903672 | 58903791 | 2795 | 2913 | 747 | 787 |
Lost protein functional features of individual exon skipping events in ROSMAP. |
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 |
Q5JWF2 | 714 | 728 | 691 | 752 | Alternative sequence | ID=VSP_052173;Note=In isoform XLas-3. AGESGKSTIVKQMRILHVNGFNGEGGEEDPQAARSNSDGEKATKVQDIKNNLKEAIETIVAA->RKVVPSDTEGRFRLDRPAPATVSWTGRGFSVSSLLIRSPNPPAFTVEKPDTQVLENLVKAPL;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9707596;Dbxref=PMID:9707596 |
Q5JWF2 | 714 | 728 | 714 | 729 | Alternative sequence | ID=VSP_052174;Note=In isoform XLas-2. EGGEEDPQAARSNSDG->DS;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q5JWF2 | 714 | 728 | 1 | 1037 | Chain | ID=PRO_0000253984;Note=Guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas |
Q5JWF2 | 747 | 787 | 691 | 752 | Alternative sequence | ID=VSP_052173;Note=In isoform XLas-3. AGESGKSTIVKQMRILHVNGFNGEGGEEDPQAARSNSDGEKATKVQDIKNNLKEAIETIVAA->RKVVPSDTEGRFRLDRPAPATVSWTGRGFSVSSLLIRSPNPPAFTVEKPDTQVLENLVKAPL;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9707596;Dbxref=PMID:9707596 |
Q5JWF2 | 747 | 787 | 753 | 1037 | Alternative sequence | ID=VSP_052175;Note=In isoform XLas-3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9707596;Dbxref=PMID:9707596 |
Q5JWF2 | 747 | 787 | 1 | 1037 | Chain | ID=PRO_0000253984;Note=Guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas |
Q5JWF2 | 747 | 787 | 730 | 756 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Lost protein functional features of individual exon skipping events in MSBB. |
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 |
Q5JWF2 | 714 | 728 | 691 | 752 | Alternative sequence | ID=VSP_052173;Note=In isoform XLas-3. AGESGKSTIVKQMRILHVNGFNGEGGEEDPQAARSNSDGEKATKVQDIKNNLKEAIETIVAA->RKVVPSDTEGRFRLDRPAPATVSWTGRGFSVSSLLIRSPNPPAFTVEKPDTQVLENLVKAPL;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9707596;Dbxref=PMID:9707596 |
Q5JWF2 | 714 | 728 | 714 | 729 | Alternative sequence | ID=VSP_052174;Note=In isoform XLas-2. EGGEEDPQAARSNSDG->DS;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q5JWF2 | 714 | 728 | 1 | 1037 | Chain | ID=PRO_0000253984;Note=Guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas |
Lost protein functional features of individual exon skipping events in Mayo. |
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 |
Q5JWF2 | 714 | 728 | 691 | 752 | Alternative sequence | ID=VSP_052173;Note=In isoform XLas-3. AGESGKSTIVKQMRILHVNGFNGEGGEEDPQAARSNSDGEKATKVQDIKNNLKEAIETIVAA->RKVVPSDTEGRFRLDRPAPATVSWTGRGFSVSSLLIRSPNPPAFTVEKPDTQVLENLVKAPL;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9707596;Dbxref=PMID:9707596 |
Q5JWF2 | 714 | 728 | 714 | 729 | Alternative sequence | ID=VSP_052174;Note=In isoform XLas-2. EGGEEDPQAARSNSDG->DS;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q5JWF2 | 714 | 728 | 1 | 1037 | Chain | ID=PRO_0000253984;Note=Guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas |
Q5JWF2 | 747 | 787 | 691 | 752 | Alternative sequence | ID=VSP_052173;Note=In isoform XLas-3. AGESGKSTIVKQMRILHVNGFNGEGGEEDPQAARSNSDGEKATKVQDIKNNLKEAIETIVAA->RKVVPSDTEGRFRLDRPAPATVSWTGRGFSVSSLLIRSPNPPAFTVEKPDTQVLENLVKAPL;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9707596;Dbxref=PMID:9707596 |
Q5JWF2 | 747 | 787 | 753 | 1037 | Alternative sequence | ID=VSP_052175;Note=In isoform XLas-3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9707596;Dbxref=PMID:9707596 |
Q5JWF2 | 747 | 787 | 1 | 1037 | Chain | ID=PRO_0000253984;Note=Guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas |
Q5JWF2 | 747 | 787 | 730 | 756 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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3'-UTR located exon skipping events that lost miRNA binding sites in GNAS |
3'-UTR exon skipping evnets lost miRNA binding. |
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 |
Mayo | ENST00000371075 | 58910334 | 58910401 | hsa-miR-5585-5p | chr20:58910377-58910384 | 8mer-1a | chr20:58910374-58910395 | 142.00 | -18.86 |
Mayo | ENST00000371098 | 58898941 | 58898985 | hsa-miR-7156-3p | chr20:58898962-58898969 | 8mer-1a | chr20:58898954-58898975 | 157.00 | -25.76 |
Mayo | ENST00000371075 | 58903672 | 58903791 | hsa-miR-6715b-5p | chr20:58903768-58903775 | 8mer-1a | chr20:58903767-58903791 | 150.00 | -27.70 |
Mayo | ENST00000371075 | 58909684 | 58909804 | hsa-miR-4709-3p | chr20:58909779-58909786 | 8mer-1a | chr20:58909760-58909786 | 155.00 | -26.47 |
Mayo | ENST00000371075 | 58909684 | 58909804 | hsa-miR-494-5p | chr20:58909743-58909750 | 8mer-1a | chr20:58909725-58909750 | 147.00 | -21.83 |
Mayo | ENST00000371075 | 58909684 | 58909804 | hsa-miR-323b-5p | chr20:58909743-58909750 | 8mer-1a | chr20:58909725-58909750 | 147.00 | -21.83 |
Mayo | ENST00000371075 | 58909684 | 58909804 | hsa-miR-410-5p | chr20:58909743-58909750 | 8mer-1a | chr20:58909725-58909750 | 147.00 | -21.83 |
Mayo | ENST00000371075 | 58903672 | 58903791 | hsa-miR-4539 | chr20:58903733-58903740 | 8mer-1a | chr20:58903716-58903740 | 154.00 | -23.22 |
Mayo | ENST00000371098 | 58898941 | 58898985 | hsa-miR-6772-3p | chr20:58898969-58898976 | 8mer-1a | chr20:58898960-58898980 | 158.00 | -17.51 |
Mayo | ENST00000371075 | 58910334 | 58910401 | hsa-miR-1538 | chr20:58910368-58910375 | 8mer-1a | chr20:58910352-58910375 | 152.00 | -29.59 |
Mayo | ENST00000371075 | 58903672 | 58903791 | hsa-miR-6777-3p | chr20:58903738-58903745 | 8mer-1a | chr20:58903734-58903755 | 162.00 | -24.95 |
Mayo | ENST00000371075 | 58910334 | 58910401 | hsa-miR-4745-3p | chr20:58910368-58910375 | 8mer-1a | chr20:58910352-58910375 | 152.00 | -29.59 |
Mayo | ENST00000371075 | 58909951 | 58910081 | hsa-miR-4433a-3p | chr20:58910069-58910076 | 8mer-1a | chr20:58910056-58910078 | 159.00 | -23.84 |
Mayo | ENST00000371075 | 58903672 | 58903791 | hsa-miR-4435 | chr20:58903714-58903721 | 8mer-1a | chr20:58903703-58903721 | 150.00 | -22.16 |
Mayo | ENST00000371075 | 58903672 | 58903791 | hsa-miR-4269 | chr20:58903768-58903775 | 8mer-1a | chr20:58903767-58903791 | 150.00 | -27.70 |
Mayo | ENST00000371075 | 58909951 | 58910081 | hsa-miR-3928-3p | chr20:58909978-58909985 | 8mer-1a | chr20:58909964-58909986 | 147.00 | -24.73 |
Mayo | ENST00000371075 | 58909951 | 58910081 | hsa-miR-7977 | chr20:58910018-58910025 | 8mer-1a | chr20:58910010-58910025 | 144.00 | -14.36 |
Mayo | ENST00000371098 | 58898941 | 58898985 | hsa-miR-4448 | chr20:58898968-58898975 | 8mer-1a | chr20:58898954-58898975 | 157.00 | -25.76 |
Mayo | ENST00000371075 | 58903672 | 58903791 | hsa-miR-12113 | chr20:58903733-58903740 | 8mer-1a | chr20:58903716-58903740 | 154.00 | -23.22 |
Mayo | ENST00000371075 | 58909684 | 58909804 | hsa-miR-4635 | chr20:58909781-58909788 | 8mer-1a | chr20:58909775-58909799 | 157.00 | -15.95 |
Mayo | ENST00000371075 | 58909951 | 58910081 | hsa-miR-4280 | chr20:58910062-58910069 | 8mer-1a | chr20:58910056-58910078 | 159.00 | -23.84 |
Mayo | ENST00000371075 | 58909684 | 58909804 | hsa-miR-591 | chr20:58909727-58909734 | 8mer-1a | chr20:58909725-58909750 | 147.00 | -21.83 |
Mayo | ENST00000371075 | 58903672 | 58903791 | hsa-miR-597-3p | chr20:58903726-58903733 | 8mer-1a | chr20:58903716-58903740 | 154.00 | -23.22 |
Mayo | ENST00000371098 | 58898941 | 58898985 | hsa-miR-6841-3p | chr20:58898965-58898972 | 8mer-1a | chr20:58898954-58898975 | 157.00 | -25.76 |
Mayo | ENST00000371075 | 58909951 | 58910081 | hsa-miR-875-3p | chr20:58910045-58910052 | 8mer-1a | chr20:58910032-58910053 | 140.00 | -13.04 |
Mayo | ENST00000371075 | 58909951 | 58910081 | hsa-miR-1299 | chr20:58910046-58910053 | 8mer-1a | chr20:58910032-58910053 | 140.00 | -13.04 |
Mayo | ENST00000371075 | 58909951 | 58910081 | hsa-miR-3915 | chr20:58909979-58909986 | 8mer-1a | chr20:58909964-58909986 | 147.00 | -24.73 |
MSBB | ENST00000371098 | 58898941 | 58898985 | hsa-miR-7156-3p | chr20:58898962-58898969 | 8mer-1a | chr20:58898954-58898975 | 157.00 | -25.76 |
MSBB | ENST00000371098 | 58898941 | 58898985 | hsa-miR-6772-3p | chr20:58898969-58898976 | 8mer-1a | chr20:58898960-58898980 | 158.00 | -17.51 |
MSBB | ENST00000371098 | 58898941 | 58898985 | hsa-miR-4448 | chr20:58898968-58898975 | 8mer-1a | chr20:58898954-58898975 | 157.00 | -25.76 |
MSBB | ENST00000371098 | 58898941 | 58898985 | hsa-miR-6841-3p | chr20:58898965-58898972 | 8mer-1a | chr20:58898954-58898975 | 157.00 | -25.76 |
ROSMAP | ENST00000371075 | 58910334 | 58910401 | hsa-miR-5585-5p | chr20:58910377-58910384 | 8mer-1a | chr20:58910374-58910395 | 142.00 | -18.86 |
ROSMAP | ENST00000371098 | 58898941 | 58898985 | hsa-miR-7156-3p | chr20:58898962-58898969 | 8mer-1a | chr20:58898954-58898975 | 157.00 | -25.76 |
ROSMAP | ENST00000371075 | 58903672 | 58903791 | hsa-miR-6715b-5p | chr20:58903768-58903775 | 8mer-1a | chr20:58903767-58903791 | 150.00 | -27.70 |
ROSMAP | ENST00000371075 | 58909684 | 58909804 | hsa-miR-4709-3p | chr20:58909779-58909786 | 8mer-1a | chr20:58909760-58909786 | 155.00 | -26.47 |
ROSMAP | ENST00000371075 | 58909684 | 58909804 | hsa-miR-494-5p | chr20:58909743-58909750 | 8mer-1a | chr20:58909725-58909750 | 147.00 | -21.83 |
ROSMAP | ENST00000371075 | 58909684 | 58909804 | hsa-miR-323b-5p | chr20:58909743-58909750 | 8mer-1a | chr20:58909725-58909750 | 147.00 | -21.83 |
ROSMAP | ENST00000371075 | 58909684 | 58909804 | hsa-miR-410-5p | chr20:58909743-58909750 | 8mer-1a | chr20:58909725-58909750 | 147.00 | -21.83 |
ROSMAP | ENST00000371075 | 58903672 | 58903791 | hsa-miR-4539 | chr20:58903733-58903740 | 8mer-1a | chr20:58903716-58903740 | 154.00 | -23.22 |
ROSMAP | ENST00000371098 | 58898941 | 58898985 | hsa-miR-6772-3p | chr20:58898969-58898976 | 8mer-1a | chr20:58898960-58898980 | 158.00 | -17.51 |
ROSMAP | ENST00000371075 | 58910334 | 58910401 | hsa-miR-1538 | chr20:58910368-58910375 | 8mer-1a | chr20:58910352-58910375 | 152.00 | -29.59 |
ROSMAP | ENST00000371075 | 58903672 | 58903791 | hsa-miR-6777-3p | chr20:58903738-58903745 | 8mer-1a | chr20:58903734-58903755 | 162.00 | -24.95 |
ROSMAP | ENST00000371075 | 58910334 | 58910401 | hsa-miR-4745-3p | chr20:58910368-58910375 | 8mer-1a | chr20:58910352-58910375 | 152.00 | -29.59 |
ROSMAP | ENST00000371075 | 58903672 | 58903791 | hsa-miR-4435 | chr20:58903714-58903721 | 8mer-1a | chr20:58903703-58903721 | 150.00 | -22.16 |
ROSMAP | ENST00000371075 | 58903672 | 58903791 | hsa-miR-4269 | chr20:58903768-58903775 | 8mer-1a | chr20:58903767-58903791 | 150.00 | -27.70 |
ROSMAP | ENST00000371098 | 58898941 | 58898985 | hsa-miR-4448 | chr20:58898968-58898975 | 8mer-1a | chr20:58898954-58898975 | 157.00 | -25.76 |
ROSMAP | ENST00000371075 | 58903672 | 58903791 | hsa-miR-12113 | chr20:58903733-58903740 | 8mer-1a | chr20:58903716-58903740 | 154.00 | -23.22 |
ROSMAP | ENST00000371075 | 58909684 | 58909804 | hsa-miR-4635 | chr20:58909781-58909788 | 8mer-1a | chr20:58909775-58909799 | 157.00 | -15.95 |
ROSMAP | ENST00000371075 | 58909684 | 58909804 | hsa-miR-591 | chr20:58909727-58909734 | 8mer-1a | chr20:58909725-58909750 | 147.00 | -21.83 |
ROSMAP | ENST00000371075 | 58903672 | 58903791 | hsa-miR-597-3p | chr20:58903726-58903733 | 8mer-1a | chr20:58903716-58903740 | 154.00 | -23.22 |
ROSMAP | ENST00000371098 | 58898941 | 58898985 | hsa-miR-6841-3p | chr20:58898965-58898972 | 8mer-1a | chr20:58898954-58898975 | 157.00 | -25.76 |
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SNVs in the skipped exons for GNAS |
- Differential PSIs between mutated versus non-mutated samples. |
- Depth of Coverage in the skipped exon of the mutated samples. |
- Sashimi plot in the skipped exon of the mutated samples. |
- Non-synonymous mutations located in the skipped exons. |
Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
- 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 |
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AD stage-associated exon skippint events for GNAS |
Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
ADstage | ROSMAP | PCC | exon_skip_72207 | -3.237294e-01 | 1.230000e-06 | chr20 | + | 58895612 | 58895684 | 58898941 | 58898985 | 58903528 | 58903543 |
ADstage | ROSMAP | PCC | exon_skip_88707 | -3.186188e-01 | 1.850000e-06 | chr20 | + | 58895612 | 58895684 | 58898941 | 58898985 | 58903531 | 58903556 |
CDR | MSBB | STG | exon_skip_72207 | -3.623693e-01 | 3.577710e-04 | chr20 | + | 58895612 | 58895684 | 58898941 | 58898985 | 58903528 | 58903543 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for GNAS |
sQTL information located at the skipped exons. |
Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for GNAS |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
CB | HNRNPDL | exon_skip_72207 | 4.489593e-01 | 2.928841e-09 |
CB | HNRNPDL | exon_skip_88707 | 4.085536e-01 | 8.982714e-08 |
CB | RBM4B | exon_skip_88707 | -4.420878e-01 | 5.413211e-09 |
DLPFC | SRSF2 | exon_skip_144003 | 6.801174e-01 | 1.757598e-34 |
DLPFC | RBM5 | exon_skip_144003 | 5.707512e-01 | 1.723148e-22 |
DLPFC | ILF2 | exon_skip_144003 | 5.960653e-01 | 7.309601e-25 |
DLPFC | HNRNPDL | exon_skip_144003 | 6.703944e-01 | 3.307878e-33 |
DLPFC | EWSR1 | exon_skip_144003 | 6.714906e-01 | 2.389270e-33 |
DLPFC | SRSF9 | exon_skip_144003 | 5.957133e-01 | 7.912900e-25 |
DLPFC | ESRP1 | exon_skip_144003 | 5.846739e-01 | 9.060014e-24 |
DLPFC | SRSF2 | exon_skip_132782 | 6.821855e-01 | 9.277319e-35 |
DLPFC | RBM5 | exon_skip_132782 | 5.401295e-01 | 7.017650e-20 |
DLPFC | ILF2 | exon_skip_132782 | 5.901336e-01 | 2.745047e-24 |
DLPFC | HNRNPDL | exon_skip_132782 | 6.795371e-01 | 2.100728e-34 |
DLPFC | EWSR1 | exon_skip_132782 | 6.389769e-01 | 2.121312e-29 |
DLPFC | SRSF9 | exon_skip_132782 | 5.777128e-01 | 4.020924e-23 |
DLPFC | ESRP1 | exon_skip_132782 | 5.721655e-01 | 1.285706e-22 |
FL | SRSF2 | exon_skip_72207 | 5.743267e-01 | 9.047695e-19 |
FL | ILF2 | exon_skip_72207 | 4.867795e-01 | 3.556957e-13 |
FL | SRSF9 | exon_skip_72207 | 5.106397e-01 | 1.522351e-14 |
FL | ESRP1 | exon_skip_72207 | 4.487832e-01 | 3.333104e-11 |
HCC | ZNF326 | exon_skip_72207 | -4.784379e-01 | 5.050188e-17 |
HCC | RBM5 | exon_skip_72207 | -4.261339e-01 | 1.803709e-13 |
HCC | HNRNPF | exon_skip_72207 | -5.866593e-01 | 1.227380e-26 |
HCC | RBM4B | exon_skip_72207 | -4.746428e-01 | 9.595183e-17 |
HCC | ZNF326 | exon_skip_88707 | -4.888444e-01 | 8.336607e-18 |
HCC | RBM5 | exon_skip_88707 | -4.475955e-01 | 7.440249e-15 |
HCC | HNRNPF | exon_skip_88707 | -5.946128e-01 | 1.714503e-27 |
HCC | RBM4B | exon_skip_88707 | -5.064450e-01 | 3.432942e-19 |
IFG | HNRNPF | exon_skip_72207 | -4.209525e-01 | 2.569922e-02 |
PCC | ZNF326 | exon_skip_72207 | -4.917824e-01 | 1.711101e-14 |
PCC | HNRNPF | exon_skip_72207 | -6.048547e-01 | 7.685289e-23 |
PCC | ZNF326 | exon_skip_88707 | -4.538547e-01 | 2.539019e-12 |
PCC | HNRNPF | exon_skip_88707 | -5.541200e-01 | 1.056842e-18 |
PG | ILF2 | exon_skip_72207 | 4.241439e-01 | 3.507140e-10 |
STG | SRSF2 | exon_skip_88707 | 4.768397e-01 | 1.351299e-06 |
STG | ILF2 | exon_skip_88707 | 5.086173e-01 | 1.937706e-07 |
STG | HNRNPDL | exon_skip_88707 | 5.069812e-01 | 2.151926e-07 |
STG | SRSF9 | exon_skip_88707 | 4.025769e-01 | 6.322148e-05 |
TC | SRSF2 | exon_skip_65827 | 5.311785e-01 | 4.973524e-13 |
TC | ILF2 | exon_skip_65827 | 5.164248e-01 | 2.749485e-12 |
TC | HNRNPDL | exon_skip_65827 | 4.510850e-01 | 2.149089e-09 |
TC | ESRP1 | exon_skip_65827 | 6.428028e-01 | 5.024123e-20 |
TC | SRSF2 | exon_skip_150697 | 5.270603e-01 | 8.082887e-13 |
TC | ILF2 | exon_skip_150697 | 4.887092e-01 | 5.512657e-11 |
TC | HNRNPDL | exon_skip_150697 | 4.482368e-01 | 2.786171e-09 |
TC | ESRP1 | exon_skip_150697 | 6.265805e-01 | 7.855481e-19 |
TC | RBMS2 | exon_skip_11390 | -4.760828e-01 | 1.981156e-10 |
TC | RBFOX2 | exon_skip_11390 | 5.618243e-01 | 1.080891e-14 |
TC | MSI1 | exon_skip_11390 | -4.532725e-01 | 1.757722e-09 |
TC | SAMD4A | exon_skip_11390 | -5.142876e-01 | 3.498540e-12 |
TC | KHDRBS3 | exon_skip_11390 | 4.975418e-01 | 2.182898e-11 |
TC | HNRNPDL | exon_skip_11390 | 4.655196e-01 | 5.554175e-10 |
TC | HNRNPD | exon_skip_11390 | 4.999294e-01 | 1.691546e-11 |
TC | NOVA1 | exon_skip_11390 | 6.997455e-01 | 7.519606e-25 |
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RelatedDrugs for GNAS |
Approved drugs targeting this gene. (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 GNAS |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |