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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 ACP2 |
Gene summary |
Gene information | Gene symbol | ACP2 | Gene ID | 53 |
Gene name | acid phosphatase 2, lysosomal | |
Synonyms | LAP | |
Cytomap | 11p11.2|11p12-p11 | |
Type of gene | protein-coding | |
Description | lysosomal acid phosphatase | |
Modification date | 20200313 | |
UniProtAcc | ||
Context | - 27132795(Lysosomal Acid Phosphatase Biosynthesis and Dysfunction: A Mini Review Focused on Lysosomal Enzyme Dysfunction in Brain) |
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 ACP2 |
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 |
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 ACP2 |
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_115364 | chr11 | 47247641:47247727:47248038:47248133:47248485:47248628 | 47248038:47248133 |
exon_skip_197688 | chr11 | 47243239:47243321:47244735:47244867:47245305:47245394 | 47244735:47244867 |
exon_skip_200478 | chr11 | 47247641:47247727:47248038:47248133:47248676:47248819 | 47248038:47248133 |
exon_skip_222221 | chr11 | 47244735:47244867:47245305:47245422:47245682:47245834 | 47245305:47245422 |
exon_skip_244636 | chr11 | 47247641:47247727:47248038:47248133:47248676:47248802 | 47248038:47248133 |
exon_skip_268058 | chr11 | 47244735:47244867:47245305:47245427:47245682:47245834 | 47245305:47245427 |
exon_skip_289507 | chr11 | 47244735:47244867:47245305:47245394:47245682:47245834 | 47245305:47245394 |
exon_skip_290400 | chr11 | 47245305:47245394:47245474:47245572:47245682:47245834 | 47245474:47245572 |
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 ACP2 |
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 |
ENST00000256997 | 47244735 | 47244867 | Frame-shift |
ENST00000256997 | 47245474 | 47245572 | In-frame |
ENST00000256997 | 47248038 | 47248133 | 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 |
ENST00000256997 | 47244735 | 47244867 | Frame-shift |
ENST00000256997 | 47245474 | 47245572 | In-frame |
ENST00000256997 | 47248038 | 47248133 | 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 |
ENST00000256997 | 47244735 | 47244867 | Frame-shift |
ENST00000256997 | 47245474 | 47245572 | In-frame |
ENST00000256997 | 47248038 | 47248133 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ACP2 |
p-ENSG00000134575_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 |
ENST00000256997 | 2220 | 423 | 47248038 | 47248133 | 232 | 326 | 38 | 69 |
ENST00000256997 | 2220 | 423 | 47245474 | 47245572 | 568 | 665 | 150 | 182 |
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 |
ENST00000256997 | 2220 | 423 | 47248038 | 47248133 | 232 | 326 | 38 | 69 |
ENST00000256997 | 2220 | 423 | 47245474 | 47245572 | 568 | 665 | 150 | 182 |
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 |
ENST00000256997 | 2220 | 423 | 47248038 | 47248133 | 232 | 326 | 38 | 69 |
ENST00000256997 | 2220 | 423 | 47245474 | 47245572 | 568 | 665 | 150 | 182 |
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 |
P11117 | 38 | 69 | 42 | 42 | Active site | Note=Nucleophile;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
P11117 | 38 | 69 | 31 | 423 | Chain | ID=PRO_0000023960;Note=Lysosomal acid phosphatase |
P11117 | 38 | 69 | 31 | 380 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
P11117 | 150 | 182 | 151 | 160 | Alternative sequence | ID=VSP_045629;Note=In isoform 2. LLKFPLGPCP->VRVASPSLGW;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
P11117 | 150 | 182 | 161 | 423 | Alternative sequence | ID=VSP_045630;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
P11117 | 150 | 182 | 31 | 423 | Chain | ID=PRO_0000023960;Note=Lysosomal acid phosphatase |
P11117 | 150 | 182 | 159 | 370 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
P11117 | 150 | 182 | 167 | 167 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19159218;Dbxref=PMID:19159218 |
P11117 | 150 | 182 | 177 | 177 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19159218;Dbxref=PMID:19159218 |
P11117 | 150 | 182 | 31 | 380 | Topological domain | Note=Lumenal;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 |
P11117 | 38 | 69 | 42 | 42 | Active site | Note=Nucleophile;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
P11117 | 38 | 69 | 31 | 423 | Chain | ID=PRO_0000023960;Note=Lysosomal acid phosphatase |
P11117 | 38 | 69 | 31 | 380 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
P11117 | 150 | 182 | 151 | 160 | Alternative sequence | ID=VSP_045629;Note=In isoform 2. LLKFPLGPCP->VRVASPSLGW;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
P11117 | 150 | 182 | 161 | 423 | Alternative sequence | ID=VSP_045630;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
P11117 | 150 | 182 | 31 | 423 | Chain | ID=PRO_0000023960;Note=Lysosomal acid phosphatase |
P11117 | 150 | 182 | 159 | 370 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
P11117 | 150 | 182 | 167 | 167 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19159218;Dbxref=PMID:19159218 |
P11117 | 150 | 182 | 177 | 177 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19159218;Dbxref=PMID:19159218 |
P11117 | 150 | 182 | 31 | 380 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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 |
P11117 | 38 | 69 | 42 | 42 | Active site | Note=Nucleophile;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
P11117 | 38 | 69 | 31 | 423 | Chain | ID=PRO_0000023960;Note=Lysosomal acid phosphatase |
P11117 | 38 | 69 | 31 | 380 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
P11117 | 150 | 182 | 151 | 160 | Alternative sequence | ID=VSP_045629;Note=In isoform 2. LLKFPLGPCP->VRVASPSLGW;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
P11117 | 150 | 182 | 161 | 423 | Alternative sequence | ID=VSP_045630;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
P11117 | 150 | 182 | 31 | 423 | Chain | ID=PRO_0000023960;Note=Lysosomal acid phosphatase |
P11117 | 150 | 182 | 159 | 370 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
P11117 | 150 | 182 | 167 | 167 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19159218;Dbxref=PMID:19159218 |
P11117 | 150 | 182 | 177 | 177 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19159218;Dbxref=PMID:19159218 |
P11117 | 150 | 182 | 31 | 380 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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3'-UTR located exon skipping events that lost miRNA binding sites in ACP2 |
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 |
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SNVs in the skipped exons for ACP2 |
- 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 ACP2 |
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 ACP2 |
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 ACP2 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
CB | RBM6 | exon_skip_197688 | -4.168334e-01 | 5.622848e-08 |
CB | RBM4 | exon_skip_197688 | -5.191889e-01 | 3.246995e-12 |
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RelatedDrugs for ACP2 |
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 ACP2 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |