|
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 ADNP |
Gene summary |
Gene information | Gene symbol | ADNP | Gene ID | 23394 |
Gene name | activity dependent neuroprotector homeobox | |
Synonyms | ADNP1|HVDAS|MRD28 | |
Cytomap | 20q13.13 | |
Type of gene | protein-coding | |
Description | activity-dependent neuroprotector homeobox proteinADNP homeobox 1activity-dependent neuroprotective proteinactivity-dependent neuroprotector | |
Modification date | 20200322 | |
UniProtAcc | ||
Context |
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 ADNP |
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 |
CB | UP | ENST00000645081.1 | ADNP-208:protein_coding:ADNP | 1.326912e+02 | 1.424863e+00 | 8.632521e-08 | 1.872683e-06 |
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 ADNP |
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_126790 | chr20 | 50903889:50904001:50928651:50928825:50930826:50931364 | 50928651:50928825 |
exon_skip_19385 | chr20 | 50902017:50902109:50903889:50904001:50928651:50928735 | 50903889:50904001 |
exon_skip_195513 | chr20 | 50894063:50894512:50902017:50902109:50930826:50931364 | 50902017:50902109 |
exon_skip_240217 | chr20 | 50903889:50904001:50904766:50904849:50928651:50928732 | 50904766:50904849 |
exon_skip_242648 | chr20 | 50903947:50904001:50904766:50904849:50928651:50928732 | 50904766:50904849 |
exon_skip_246031 | chr20 | 50902017:50902109:50903889:50904001:50928651:50928732 | 50903889:50904001 |
exon_skip_258666 | chr20 | 50903947:50904001:50928651:50928825:50930826:50931364 | 50928651:50928825 |
exon_skip_267035 | chr20 | 50903889:50904001:50928651:50928825:50930826:50930861 | 50928651:50928825 |
exon_skip_268646 | chr20 | 50902017:50902109:50903889:50904001:50930826:50931364 | 50903889:50904001 |
exon_skip_275395 | chr20 | 50902017:50902109:50903889:50904001:50930826:50930861 | 50903889:50904001 |
exon_skip_67078 | chr20 | 50903889:50904001:50904766:50904849:50928651:50928825 | 50904766:50904849 |
exon_skip_79216 | chr20 | 50904766:50904849:50928651:50928825:50930826:50931364 | 50928651:50928825 |
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 |
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Open reading frame (ORF) annotation in the exon skipping event for ADNP |
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 |
ENST00000396029 | 50903889 | 50904001 | 3UTR-3CDS |
ENST00000396032 | 50903889 | 50904001 | 3UTR-3CDS |
ENST00000621696 | 50904766 | 50904849 | 3UTR-3UTR |
ENST00000396029 | 50928651 | 50928825 | 3UTR-3UTR |
ENST00000621696 | 50928651 | 50928825 | 3UTR-3UTR |
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 |
ENST00000396032 | 50903889 | 50904001 | 3UTR-3CDS |
ENST00000621696 | 50904766 | 50904849 | 3UTR-3UTR |
ENST00000396029 | 50928651 | 50928825 | 3UTR-3UTR |
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 |
ENST00000396029 | 50903889 | 50904001 | 3UTR-3CDS |
ENST00000396032 | 50903889 | 50904001 | 3UTR-3CDS |
ENST00000621696 | 50904766 | 50904849 | 3UTR-3UTR |
ENST00000396029 | 50928651 | 50928825 | 3UTR-3UTR |
ENST00000621696 | 50928651 | 50928825 | 3UTR-3UTR |
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Infer the effects of exon skipping event on protein functional features for ADNP |
p-ENSG00000101126_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 |
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 |
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 |
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 |
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 |
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 |
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3'-UTR located exon skipping events that lost miRNA binding sites in ADNP |
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 | ENST00000621696 | 50904766 | 50904849 | hsa-miR-6808-5p | chr20:50904829-50904836 | 8mer-1a | chr20:50904817-50904838 | 155.00 | -24.94 |
Mayo | ENST00000621696 | 50928651 | 50928825 | hsa-miR-378f | chr20:50928696-50928703 | 8mer-1a | chr20:50928683-50928703 | 155.00 | -19.23 |
Mayo | ENST00000621696 | 50928651 | 50928825 | hsa-miR-378c | chr20:50928696-50928703 | 8mer-1a | chr20:50928683-50928703 | 155.00 | -19.23 |
Mayo | ENST00000621696 | 50928651 | 50928825 | hsa-miR-6747-3p | chr20:50928683-50928690 | 8mer-1a | chr20:50928668-50928690 | 166.00 | -28.00 |
Mayo | ENST00000621696 | 50928651 | 50928825 | hsa-miR-4708-5p | chr20:50928815-50928822 | 8mer-1a | chr20:50928803-50928822 | 146.00 | -14.73 |
Mayo | ENST00000621696 | 50928651 | 50928825 | hsa-miR-422a | chr20:50928696-50928703 | 8mer-1a | chr20:50928683-50928703 | 155.00 | -19.23 |
Mayo | ENST00000621696 | 50904766 | 50904849 | hsa-miR-940 | chr20:50904829-50904836 | 8mer-1a | chr20:50904817-50904838 | 155.00 | -24.94 |
Mayo | ENST00000621696 | 50928651 | 50928825 | hsa-miR-140-5p | chr20:50928729-50928736 | 8mer-1a | chr20:50928715-50928736 | 164.00 | -18.27 |
Mayo | ENST00000621696 | 50928651 | 50928825 | hsa-miR-6865-5p | chr20:50928738-50928745 | 8mer-1a | chr20:50928732-50928755 | 155.00 | -22.06 |
Mayo | ENST00000621696 | 50928651 | 50928825 | hsa-miR-4724-5p | chr20:50928749-50928756 | 8mer-1a | chr20:50928749-50928770 | 175.00 | -15.92 |
Mayo | ENST00000621696 | 50904766 | 50904849 | hsa-miR-3065-5p | chr20:50904810-50904817 | 8mer-1a | chr20:50904807-50904828 | 164.00 | -20.35 |
Mayo | ENST00000621696 | 50904766 | 50904849 | hsa-miR-1323 | chr20:50904783-50904790 | 8mer-1a | chr20:50904773-50904799 | 158.00 | -19.87 |
Mayo | ENST00000621696 | 50928651 | 50928825 | hsa-miR-4776-5p | chr20:50928669-50928676 | 8mer-1a | chr20:50928668-50928690 | 166.00 | -28.00 |
Mayo | ENST00000621696 | 50904766 | 50904849 | hsa-miR-548o-3p | chr20:50904783-50904790 | 8mer-1a | chr20:50904773-50904799 | 158.00 | -19.87 |
Mayo | ENST00000621696 | 50928651 | 50928825 | hsa-miR-6815-5p | chr20:50928738-50928745 | 8mer-1a | chr20:50928732-50928755 | 155.00 | -22.06 |
Mayo | ENST00000621696 | 50928651 | 50928825 | hsa-miR-378i | chr20:50928696-50928703 | 8mer-1a | chr20:50928683-50928703 | 155.00 | -19.23 |
Mayo | ENST00000621696 | 50928651 | 50928825 | hsa-miR-378b | chr20:50928696-50928703 | 8mer-1a | chr20:50928683-50928703 | 155.00 | -19.23 |
Mayo | ENST00000621696 | 50928651 | 50928825 | hsa-miR-378d | chr20:50928696-50928703 | 8mer-1a | chr20:50928683-50928703 | 155.00 | -19.23 |
Mayo | ENST00000621696 | 50928651 | 50928825 | hsa-miR-378a-3p | chr20:50928696-50928703 | 8mer-1a | chr20:50928683-50928703 | 155.00 | -19.23 |
Mayo | ENST00000621696 | 50928651 | 50928825 | hsa-miR-378h | chr20:50928696-50928703 | 8mer-1a | chr20:50928683-50928703 | 155.00 | -19.23 |
Mayo | ENST00000621696 | 50928651 | 50928825 | hsa-miR-378e | chr20:50928696-50928703 | 8mer-1a | chr20:50928683-50928703 | 155.00 | -19.23 |
Mayo | ENST00000621696 | 50904766 | 50904849 | hsa-miR-7159-5p | chr20:50904811-50904818 | 8mer-1a | chr20:50904807-50904828 | 164.00 | -20.35 |
Mayo | ENST00000621696 | 50904766 | 50904849 | hsa-miR-6893-5p | chr20:50904829-50904836 | 8mer-1a | chr20:50904817-50904838 | 155.00 | -24.94 |
Mayo | ENST00000621696 | 50928651 | 50928825 | hsa-miR-3074-5p | chr20:50928685-50928692 | 8mer-1a | chr20:50928678-50928697 | 165.00 | -28.09 |
MSBB | ENST00000621696 | 50904766 | 50904849 | hsa-miR-6808-5p | chr20:50904829-50904836 | 8mer-1a | chr20:50904817-50904838 | 155.00 | -24.94 |
MSBB | ENST00000396029 | 50928651 | 50928825 | hsa-miR-378f | chr20:50928696-50928703 | 8mer-1a | chr20:50928683-50928703 | 155.00 | -19.23 |
MSBB | ENST00000396029 | 50928651 | 50928825 | hsa-miR-378c | chr20:50928696-50928703 | 8mer-1a | chr20:50928683-50928703 | 155.00 | -19.23 |
MSBB | ENST00000396029 | 50928651 | 50928825 | hsa-miR-6747-3p | chr20:50928683-50928690 | 8mer-1a | chr20:50928668-50928690 | 166.00 | -28.00 |
MSBB | ENST00000396029 | 50928651 | 50928825 | hsa-miR-4708-5p | chr20:50928815-50928822 | 8mer-1a | chr20:50928803-50928822 | 146.00 | -14.73 |
MSBB | ENST00000396029 | 50928651 | 50928825 | hsa-miR-422a | chr20:50928696-50928703 | 8mer-1a | chr20:50928683-50928703 | 155.00 | -19.23 |
MSBB | ENST00000621696 | 50904766 | 50904849 | hsa-miR-940 | chr20:50904829-50904836 | 8mer-1a | chr20:50904817-50904838 | 155.00 | -24.94 |
MSBB | ENST00000396029 | 50928651 | 50928825 | hsa-miR-140-5p | chr20:50928729-50928736 | 8mer-1a | chr20:50928715-50928736 | 164.00 | -18.27 |
MSBB | ENST00000396029 | 50928651 | 50928825 | hsa-miR-6865-5p | chr20:50928738-50928745 | 8mer-1a | chr20:50928732-50928755 | 155.00 | -22.06 |
MSBB | ENST00000396029 | 50928651 | 50928825 | hsa-miR-4724-5p | chr20:50928749-50928756 | 8mer-1a | chr20:50928749-50928770 | 175.00 | -15.92 |
MSBB | ENST00000621696 | 50904766 | 50904849 | hsa-miR-3065-5p | chr20:50904810-50904817 | 8mer-1a | chr20:50904807-50904828 | 164.00 | -20.35 |
MSBB | ENST00000621696 | 50904766 | 50904849 | hsa-miR-1323 | chr20:50904783-50904790 | 8mer-1a | chr20:50904773-50904799 | 158.00 | -19.87 |
MSBB | ENST00000396029 | 50928651 | 50928825 | hsa-miR-4776-5p | chr20:50928669-50928676 | 8mer-1a | chr20:50928668-50928690 | 166.00 | -28.00 |
MSBB | ENST00000621696 | 50904766 | 50904849 | hsa-miR-548o-3p | chr20:50904783-50904790 | 8mer-1a | chr20:50904773-50904799 | 158.00 | -19.87 |
MSBB | ENST00000396029 | 50928651 | 50928825 | hsa-miR-6815-5p | chr20:50928738-50928745 | 8mer-1a | chr20:50928732-50928755 | 155.00 | -22.06 |
MSBB | ENST00000396029 | 50928651 | 50928825 | hsa-miR-378i | chr20:50928696-50928703 | 8mer-1a | chr20:50928683-50928703 | 155.00 | -19.23 |
MSBB | ENST00000396029 | 50928651 | 50928825 | hsa-miR-378b | chr20:50928696-50928703 | 8mer-1a | chr20:50928683-50928703 | 155.00 | -19.23 |
MSBB | ENST00000396029 | 50928651 | 50928825 | hsa-miR-378d | chr20:50928696-50928703 | 8mer-1a | chr20:50928683-50928703 | 155.00 | -19.23 |
MSBB | ENST00000396029 | 50928651 | 50928825 | hsa-miR-378a-3p | chr20:50928696-50928703 | 8mer-1a | chr20:50928683-50928703 | 155.00 | -19.23 |
MSBB | ENST00000396029 | 50928651 | 50928825 | hsa-miR-378h | chr20:50928696-50928703 | 8mer-1a | chr20:50928683-50928703 | 155.00 | -19.23 |
MSBB | ENST00000396029 | 50928651 | 50928825 | hsa-miR-378e | chr20:50928696-50928703 | 8mer-1a | chr20:50928683-50928703 | 155.00 | -19.23 |
MSBB | ENST00000621696 | 50904766 | 50904849 | hsa-miR-7159-5p | chr20:50904811-50904818 | 8mer-1a | chr20:50904807-50904828 | 164.00 | -20.35 |
MSBB | ENST00000621696 | 50904766 | 50904849 | hsa-miR-6893-5p | chr20:50904829-50904836 | 8mer-1a | chr20:50904817-50904838 | 155.00 | -24.94 |
MSBB | ENST00000396029 | 50928651 | 50928825 | hsa-miR-3074-5p | chr20:50928685-50928692 | 8mer-1a | chr20:50928678-50928697 | 165.00 | -28.09 |
ROSMAP | ENST00000621696 | 50904766 | 50904849 | hsa-miR-6808-5p | chr20:50904829-50904836 | 8mer-1a | chr20:50904817-50904838 | 155.00 | -24.94 |
ROSMAP | ENST00000621696 | 50928651 | 50928825 | hsa-miR-378f | chr20:50928696-50928703 | 8mer-1a | chr20:50928683-50928703 | 155.00 | -19.23 |
ROSMAP | ENST00000621696 | 50928651 | 50928825 | hsa-miR-378c | chr20:50928696-50928703 | 8mer-1a | chr20:50928683-50928703 | 155.00 | -19.23 |
ROSMAP | ENST00000621696 | 50928651 | 50928825 | hsa-miR-6747-3p | chr20:50928683-50928690 | 8mer-1a | chr20:50928668-50928690 | 166.00 | -28.00 |
ROSMAP | ENST00000621696 | 50928651 | 50928825 | hsa-miR-4708-5p | chr20:50928815-50928822 | 8mer-1a | chr20:50928803-50928822 | 146.00 | -14.73 |
ROSMAP | ENST00000621696 | 50928651 | 50928825 | hsa-miR-422a | chr20:50928696-50928703 | 8mer-1a | chr20:50928683-50928703 | 155.00 | -19.23 |
ROSMAP | ENST00000621696 | 50904766 | 50904849 | hsa-miR-940 | chr20:50904829-50904836 | 8mer-1a | chr20:50904817-50904838 | 155.00 | -24.94 |
ROSMAP | ENST00000621696 | 50928651 | 50928825 | hsa-miR-140-5p | chr20:50928729-50928736 | 8mer-1a | chr20:50928715-50928736 | 164.00 | -18.27 |
ROSMAP | ENST00000621696 | 50928651 | 50928825 | hsa-miR-6865-5p | chr20:50928738-50928745 | 8mer-1a | chr20:50928732-50928755 | 155.00 | -22.06 |
ROSMAP | ENST00000621696 | 50928651 | 50928825 | hsa-miR-4724-5p | chr20:50928749-50928756 | 8mer-1a | chr20:50928749-50928770 | 175.00 | -15.92 |
ROSMAP | ENST00000621696 | 50904766 | 50904849 | hsa-miR-3065-5p | chr20:50904810-50904817 | 8mer-1a | chr20:50904807-50904828 | 164.00 | -20.35 |
ROSMAP | ENST00000621696 | 50904766 | 50904849 | hsa-miR-1323 | chr20:50904783-50904790 | 8mer-1a | chr20:50904773-50904799 | 158.00 | -19.87 |
ROSMAP | ENST00000621696 | 50928651 | 50928825 | hsa-miR-4776-5p | chr20:50928669-50928676 | 8mer-1a | chr20:50928668-50928690 | 166.00 | -28.00 |
ROSMAP | ENST00000621696 | 50904766 | 50904849 | hsa-miR-548o-3p | chr20:50904783-50904790 | 8mer-1a | chr20:50904773-50904799 | 158.00 | -19.87 |
ROSMAP | ENST00000621696 | 50928651 | 50928825 | hsa-miR-6815-5p | chr20:50928738-50928745 | 8mer-1a | chr20:50928732-50928755 | 155.00 | -22.06 |
ROSMAP | ENST00000621696 | 50928651 | 50928825 | hsa-miR-378i | chr20:50928696-50928703 | 8mer-1a | chr20:50928683-50928703 | 155.00 | -19.23 |
ROSMAP | ENST00000621696 | 50928651 | 50928825 | hsa-miR-378b | chr20:50928696-50928703 | 8mer-1a | chr20:50928683-50928703 | 155.00 | -19.23 |
ROSMAP | ENST00000621696 | 50928651 | 50928825 | hsa-miR-378d | chr20:50928696-50928703 | 8mer-1a | chr20:50928683-50928703 | 155.00 | -19.23 |
ROSMAP | ENST00000621696 | 50928651 | 50928825 | hsa-miR-378a-3p | chr20:50928696-50928703 | 8mer-1a | chr20:50928683-50928703 | 155.00 | -19.23 |
ROSMAP | ENST00000621696 | 50928651 | 50928825 | hsa-miR-378h | chr20:50928696-50928703 | 8mer-1a | chr20:50928683-50928703 | 155.00 | -19.23 |
ROSMAP | ENST00000621696 | 50928651 | 50928825 | hsa-miR-378e | chr20:50928696-50928703 | 8mer-1a | chr20:50928683-50928703 | 155.00 | -19.23 |
ROSMAP | ENST00000621696 | 50904766 | 50904849 | hsa-miR-7159-5p | chr20:50904811-50904818 | 8mer-1a | chr20:50904807-50904828 | 164.00 | -20.35 |
ROSMAP | ENST00000621696 | 50904766 | 50904849 | hsa-miR-6893-5p | chr20:50904829-50904836 | 8mer-1a | chr20:50904817-50904838 | 155.00 | -24.94 |
ROSMAP | ENST00000621696 | 50928651 | 50928825 | hsa-miR-3074-5p | chr20:50928685-50928692 | 8mer-1a | chr20:50928678-50928697 | 165.00 | -28.09 |
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SNVs in the skipped exons for ADNP |
- 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 ADNP |
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 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ADNP |
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 ADNP |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
CB | TRA2A | exon_skip_275395 | -4.343795e-01 | 5.172154e-07 |
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RelatedDrugs for ADNP |
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 ADNP |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |