 Gene summary |
| Gene information | Gene symbol | ADAMTSL3 |
Gene ID | 57188 | | Gene name | ADAMTS like 3 |
| Synonyms | ADAMTSL-3 |
| Cytomap | 15q25.2 |
| Type of gene | protein-coding |
| Description | ADAMTS-like protein 3a disintegrin-like and metalloprotease domain with thrombospondin type I motifs-like 3punctin-2 |
| Modification date | 20200320 |
| UniProtAcc | P82987, |
| Context | |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
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. |
ENSG00000156218
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
***cutpoints = c(0, 0.0001, 0.001, 0.01, 1), symbols = c("****", "***", "**", "ns")
| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| TC | UP | 2.159808e+02 | 9.333112e-01 | 9.211495e-10 | 6.120825e-08 |
| 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 |
| TC | UP | ENST00000286744.10 | ADAMTSL3-201:protein_coding:ADAMTSL3 | 1.936058e+02 | 1.015941e+00 | 1.382844e-10 | 2.576627e-08 |
| TC | UP | ENST00000561483.5 | ADAMTSL3-202:retained_intron:ADAMTSL3 | 2.721503e+00 | 1.461349e+00 | 3.998868e-03 | 2.831317e-02 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
| 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_100420 | chr15 | 83899647:83899731:83913092:83913378:83923904:83924033 | 83913092:83913378 |
| exon_skip_137835 | chr15 | 83870912:83870959:83885101:83885212:83890109:83890247 | 83885101:83885212 |
| exon_skip_151225 | chr15 | 84014542:84014724:84016383:84016499:84021410:84021593 | 84016383:84016499 |
| exon_skip_19529 | chr15 | 83982273:83983344:83988691:83988818:83991086:83991214 | 83988691:83988818 |
| exon_skip_20000 | chr15 | 83819811:83820047:83838089:83838215:83858766:83858840 | 83838089:83838215 |
| exon_skip_294697 | chr15 | 84031335:84031432:84036773:84037004:84037763:84039427 | 84036773:84037004 |
| exon_skip_68873 | chr15 | 83804650:83804695:83819811:83820047:83838089:83838215 | 83819811:83820047 |
| 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 |
| 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 |
| ENST00000286744 | 83838089 | 83838215 | Frame-shift |
| ENST00000286744 | 83885101 | 83885212 | Frame-shift |
| ENST00000286744 | 84016383 | 84016499 | 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 |
| ENST00000286744 | 83838089 | 83838215 | Frame-shift |
| ENST00000286744 | 83885101 | 83885212 | Frame-shift |
| ENST00000286744 | 83913092 | 83913378 | Frame-shift |
| 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 |
| ENST00000286744 | 83838089 | 83838215 | Frame-shift |
| ENST00000286744 | 83988691 | 83988818 | Frame-shift |
| ENST00000286744 | 83819811 | 83820047 | In-frame |
| ENST00000286744 | 84016383 | 84016499 | In-frame |
p-ENSG00000156218_img4.png
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| 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 |
| ENST00000286744 | 7353 | 1691 | 84016383 | 84016499 | 4382 | 4497 | 1386 | 1424 |
| 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 |
| ENST00000286744 | 7353 | 1691 | 83819811 | 83820047 | 589 | 824 | 121 | 200 |
| ENST00000286744 | 7353 | 1691 | 84016383 | 84016499 | 4382 | 4497 | 1386 | 1424 |
| 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 |
| P82987 | 1386 | 1424 | 27 | 1691 | Chain | ID=PRO_0000249684;Note=ADAMTS-like protein 3 |
| P82987 | 1386 | 1424 | 1424 | 1482 | Domain | Note=TSP type-1 8;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00210 |
| 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 |
| P82987 | 121 | 200 | 27 | 1691 | Chain | ID=PRO_0000249684;Note=ADAMTS-like protein 3 |
| P82987 | 121 | 200 | 91 | 123 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P82987 | 121 | 200 | 75 | 124 | Domain | Note=TSP type-1 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00210 |
| P82987 | 121 | 200 | 146 | 146 | Natural variant | ID=VAR_027478;Note=H->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs4483821,PMID:15489334 |
| P82987 | 1386 | 1424 | 27 | 1691 | Chain | ID=PRO_0000249684;Note=ADAMTS-like protein 3 |
| P82987 | 1386 | 1424 | 1424 | 1482 | Domain | Note=TSP type-1 8;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00210 |
| 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 |
| - 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 |
| 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 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Diseases associated with this gene.
(DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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