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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 TYROBP |
Gene summary |
Gene information | Gene symbol | TYROBP | Gene ID | 7305 |
Gene name | transmembrane immune signaling adaptor TYROBP | |
Synonyms | DAP12|KARAP|PLOSL|PLOSL1 | |
Cytomap | 19q13.12 | |
Type of gene | protein-coding | |
Description | TYRO protein tyrosine kinase-binding proteinDNAX adaptor protein 12DNAX-activation protein 12KAR-associated proteinTYRO protein tyrosine kinase binding proteinkiller-activating receptor-associated proteinpolycystic lipomembranous osteodysplasia with | |
Modification date | 20200329 | |
UniProtAcc | ||
Context | - 27658901(TYROBP Genetic Variants in Early-Onset Alzheimer's Disease) |
Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Gene | GO ID | GO term | PubMed ID |
TYROBP | GO:0002274 | myeloid leukocyte activation | 10604985 |
TYROBP | GO:0050821 | protein stabilization | 25957402 |
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Gene structures and expression levels for TYROBP |
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 | ENST00000262629.8 | TYROBP-201:protein_coding:TYROBP | 3.924487e+01 | 8.215825e-01 | 4.236402e-04 | 2.513551e-02 |
PG | UP | ENST00000589517.1 | TYROBP-209:protein_coding:TYROBP | 5.513234e+00 | 1.007355e+00 | 1.454486e-03 | 1.904131e-02 |
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 TYROBP |
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_214757 | chr19 | 35907446:35907580:35907730:35907762:35908168:35908223 | 35907730:35907762 |
exon_skip_235102 | chr19 | 35907446:35907580:35907730:35907762:35908175:35908295 | 35907730:35907762 |
exon_skip_239812 | chr19 | 35904560:35904634:35907218:35907264:35907446:35907580 | 35907218:35907264 |
exon_skip_247668 | chr19 | 35904560:35904634:35907218:35907261:35907446:35907580 | 35907218:35907261 |
exon_skip_60234 | chr19 | 35904560:35904634:35907218:35907357:35907446:35907580 | 35907218:35907357 |
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 TYROBP |
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 |
ENST00000262629 | 35907218 | 35907264 | Frame-shift |
ENST00000262629 | 35907730 | 35907762 | 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 |
ENST00000262629 | 35907218 | 35907264 | Frame-shift |
ENST00000262629 | 35907730 | 35907762 | 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 |
ENST00000262629 | 35907218 | 35907264 | Frame-shift |
ENST00000262629 | 35907730 | 35907762 | In-frame |
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Infer the effects of exon skipping event on protein functional features for TYROBP |
p-ENSG00000011600_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 |
ENST00000262629 | 585 | 113 | 35907730 | 35907762 | 129 | 160 | 20 | 31 |
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 |
ENST00000262629 | 585 | 113 | 35907730 | 35907762 | 129 | 160 | 20 | 31 |
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 |
ENST00000262629 | 585 | 113 | 35907730 | 35907762 | 129 | 160 | 20 | 31 |
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 |
O43914 | 20 | 31 | 20 | 30 | Alternative sequence | ID=VSP_046066;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:16344560;Dbxref=PMID:16344560 |
O43914 | 20 | 31 | 22 | 113 | Chain | ID=PRO_0000022603;Note=TYRO protein tyrosine kinase-binding protein |
O43914 | 20 | 31 | 1 | 21 | Signal peptide | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
O43914 | 20 | 31 | 22 | 40 | Topological domain | Note=Extracellular;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 |
O43914 | 20 | 31 | 20 | 30 | Alternative sequence | ID=VSP_046066;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:16344560;Dbxref=PMID:16344560 |
O43914 | 20 | 31 | 22 | 113 | Chain | ID=PRO_0000022603;Note=TYRO protein tyrosine kinase-binding protein |
O43914 | 20 | 31 | 1 | 21 | Signal peptide | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
O43914 | 20 | 31 | 22 | 40 | Topological domain | Note=Extracellular;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 |
O43914 | 20 | 31 | 20 | 30 | Alternative sequence | ID=VSP_046066;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:16344560;Dbxref=PMID:16344560 |
O43914 | 20 | 31 | 22 | 113 | Chain | ID=PRO_0000022603;Note=TYRO protein tyrosine kinase-binding protein |
O43914 | 20 | 31 | 1 | 21 | Signal peptide | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
O43914 | 20 | 31 | 22 | 40 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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3'-UTR located exon skipping events that lost miRNA binding sites in TYROBP |
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 TYROBP |
- 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 TYROBP |
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 TYROBP |
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 TYROBP |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for TYROBP |
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 TYROBP |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |