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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 LASP1 |
Gene summary |
Gene information | Gene symbol | LASP1 | Gene ID | 3927 |
Gene name | LIM and SH3 protein 1 | |
Synonyms | Lasp-1|MLN50 | |
Cytomap | 17q12 | |
Type of gene | protein-coding | |
Description | LIM and SH3 domain protein 1metastatic lymph node gene 50 protein | |
Modification date | 20200313 | |
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 LASP1 |
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 |
STG | UP | ENST00000646274.1 | CLASP1-216:protein_coding:CLASP1 | 7.541049e+01 | 7.635680e+00 | 7.193475e-10 | 9.073185e-07 |
CB | UP | ENST00000472776.1 | CLASP1-210:retained_intron:CLASP1 | 5.725222e+01 | 8.078072e-01 | 4.119561e-11 | 3.023564e-09 |
CB | UP | ENST00000463621.3 | CLASP1-209:retained_intron:CLASP1 | 9.827009e+00 | 1.066638e+00 | 2.324220e-06 | 3.071023e-05 |
CB | DOWN | ENST00000435347.7 | LASP1-204:protein_coding:LASP1 | 1.046639e+01 | -6.998867e+00 | 4.939375e-03 | 1.947897e-02 |
TC | DOWN | ENST00000435347.7 | LASP1-204:protein_coding:LASP1 | 8.181339e+01 | -8.920091e+00 | 5.538388e-09 | 5.520569e-07 |
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 LASP1 |
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_24733 | chr17 | 38890420:38890504:38898412:38898519:38914325:38914475 | 38898412:38898519 |
exon_skip_248659 | chr17 | 38890420:38890504:38896902:38897071:38898412:38898519 | 38896902:38897071 |
exon_skip_33360 | chr17 | 38878086:38878180:38890420:38890504:38898412:38898519 | 38890420:38890504 |
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 LASP1 |
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 |
ENST00000318008 | 38890420 | 38890504 | Frame-shift |
ENST00000435347 | 38890420 | 38890504 | Frame-shift |
ENST00000318008 | 38898412 | 38898519 | In-frame |
ENST00000435347 | 38898412 | 38898519 | 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 |
ENST00000318008 | 38890420 | 38890504 | Frame-shift |
ENST00000435347 | 38890420 | 38890504 | 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 |
ENST00000318008 | 38890420 | 38890504 | Frame-shift |
ENST00000435347 | 38890420 | 38890504 | Frame-shift |
ENST00000318008 | 38898412 | 38898519 | In-frame |
ENST00000435347 | 38898412 | 38898519 | In-frame |
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Infer the effects of exon skipping event on protein functional features for LASP1 |
p-ENSG00000002834_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 |
ENST00000318008 | 4126 | 261 | 38898412 | 38898519 | 582 | 688 | 83 | 119 |
ENST00000435347 | 3509 | 261 | 38898412 | 38898519 | 298 | 404 | 83 | 119 |
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 |
ENST00000318008 | 4126 | 261 | 38898412 | 38898519 | 582 | 688 | 83 | 119 |
ENST00000435347 | 3509 | 261 | 38898412 | 38898519 | 298 | 404 | 83 | 119 |
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 |
Q14847 | 83 | 119 | 1 | 83 | Alternative sequence | ID=VSP_054611;Note=In isoform 3. MNPNCARCGKIVYPTEKVNCLDKFWHKACFHCETCKMTLNMKNYKGYEKKPYCNAHYPKQSFTMVADTPENLRLKQQSELQSQ->MLPLRDLQDDTEHEELQGLREEALLQR;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
Q14847 | 83 | 119 | 1 | 83 | Alternative sequence | ID=VSP_054611;Note=In isoform 3. MNPNCARCGKIVYPTEKVNCLDKFWHKACFHCETCKMTLNMKNYKGYEKKPYCNAHYPKQSFTMVADTPENLRLKQQSELQSQ->MLPLRDLQDDTEHEELQGLREEALLQR;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
Q14847 | 83 | 119 | 1 | 261 | Chain | ID=PRO_0000075761;Note=LIM and SH3 domain protein 1 |
Q14847 | 83 | 119 | 1 | 261 | Chain | ID=PRO_0000075761;Note=LIM and SH3 domain protein 1 |
Q14847 | 83 | 119 | 99 | 99 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
Q14847 | 83 | 119 | 99 | 99 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
Q14847 | 83 | 119 | 104 | 104 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:17924679,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMI |
Q14847 | 83 | 119 | 104 | 104 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:17924679,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMI |
Q14847 | 83 | 119 | 112 | 112 | Modified residue | Note=N6-succinyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q61792 |
Q14847 | 83 | 119 | 112 | 112 | Modified residue | Note=N6-succinyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q61792 |
Q14847 | 83 | 119 | 118 | 118 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:20068231;Dbxref=PMID:20068231 |
Q14847 | 83 | 119 | 118 | 118 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:20068231;Dbxref=PMID:20068231 |
Q14847 | 83 | 119 | 61 | 95 | Repeat | Note=Nebulin 1 |
Q14847 | 83 | 119 | 61 | 95 | Repeat | Note=Nebulin 1 |
Q14847 | 83 | 119 | 97 | 131 | Repeat | Note=Nebulin 2 |
Q14847 | 83 | 119 | 97 | 131 | Repeat | Note=Nebulin 2 |
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 |
Q14847 | 83 | 119 | 1 | 83 | Alternative sequence | ID=VSP_054611;Note=In isoform 3. MNPNCARCGKIVYPTEKVNCLDKFWHKACFHCETCKMTLNMKNYKGYEKKPYCNAHYPKQSFTMVADTPENLRLKQQSELQSQ->MLPLRDLQDDTEHEELQGLREEALLQR;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
Q14847 | 83 | 119 | 1 | 83 | Alternative sequence | ID=VSP_054611;Note=In isoform 3. MNPNCARCGKIVYPTEKVNCLDKFWHKACFHCETCKMTLNMKNYKGYEKKPYCNAHYPKQSFTMVADTPENLRLKQQSELQSQ->MLPLRDLQDDTEHEELQGLREEALLQR;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
Q14847 | 83 | 119 | 1 | 261 | Chain | ID=PRO_0000075761;Note=LIM and SH3 domain protein 1 |
Q14847 | 83 | 119 | 1 | 261 | Chain | ID=PRO_0000075761;Note=LIM and SH3 domain protein 1 |
Q14847 | 83 | 119 | 99 | 99 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
Q14847 | 83 | 119 | 99 | 99 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
Q14847 | 83 | 119 | 104 | 104 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:17924679,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMI |
Q14847 | 83 | 119 | 104 | 104 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:17924679,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMI |
Q14847 | 83 | 119 | 112 | 112 | Modified residue | Note=N6-succinyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q61792 |
Q14847 | 83 | 119 | 112 | 112 | Modified residue | Note=N6-succinyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q61792 |
Q14847 | 83 | 119 | 118 | 118 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:20068231;Dbxref=PMID:20068231 |
Q14847 | 83 | 119 | 118 | 118 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:20068231;Dbxref=PMID:20068231 |
Q14847 | 83 | 119 | 61 | 95 | Repeat | Note=Nebulin 1 |
Q14847 | 83 | 119 | 61 | 95 | Repeat | Note=Nebulin 1 |
Q14847 | 83 | 119 | 97 | 131 | Repeat | Note=Nebulin 2 |
Q14847 | 83 | 119 | 97 | 131 | Repeat | Note=Nebulin 2 |
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3'-UTR located exon skipping events that lost miRNA binding sites in LASP1 |
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 LASP1 |
- 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 LASP1 |
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 LASP1 |
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 LASP1 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for LASP1 |
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 LASP1 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |