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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for TYROBP |
 Gene summary |
| Gene information | Gene symbol | TYROBP | Gene ID | 7305 |
| Gene name | TYRO protein tyrosine kinase binding protein | |
| Synonyms | DAP12|KARAP|PLOSL | |
| Cytomap | 19q13.12 | |
| Type of gene | protein-coding | |
| Description | TYRO protein tyrosine kinase-binding proteinDNAX-activation protein 12KAR-associated proteinkiller-activating receptor-associated protein | |
| Modification date | 20180519 | |
| UniProtAcc | O43914 | |
| Context | PubMed: TYROBP [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| 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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Exon skipping events across known transcript of Ensembl for TYROBP from UCSC genome browser |
| Skipped exons in TCGA and GTEx 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. |
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Gene isoform structures and expression levels for TYROBP |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for TYROBP |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_317666 | 19 | 36395461:36395536:36398119:36398163:36398347:36398482 | 36398119:36398163 | ENSG00000011600.7 | ENST00000424586.3,ENST00000589517.1,ENST00000586946.1 |
| exon_skip_317667 | 19 | 36395461:36395536:36398119:36398166:36398347:36398482 | 36398119:36398166 | ENSG00000011600.7 | ENST00000544690.2,ENST00000588439.1,ENST00000262629.4,ENST00000587837.1 |
| exon_skip_317668 | 19 | 36395461:36395536:36398119:36398259:36398347:36398482 | 36398119:36398259 | ENSG00000011600.7 | ENST00000585901.2 |
| exon_skip_317669 | 19 | 36398119:36398166:36398347:36398482:36398631:36398664 | 36398347:36398482 | ENSG00000011600.7 | ENST00000262629.4,ENST00000587837.1 |
| exon_skip_317671 | 19 | 36398465:36398482:36398631:36398664:36399069:36399125 | 36398631:36398664 | ENSG00000011600.7 | ENST00000585901.2,ENST00000585626.1,ENST00000589517.1,ENST00000262629.4 |
| exon_skip_317672 | 19 | 36398465:36398482:36398631:36398664:36399076:36399197 | 36398631:36398664 | ENSG00000011600.7 | ENST00000586946.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for TYROBP |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_317666 | 19 | 36395461:36395536:36398119:36398163:36398347:36398482 | 36398119:36398163 | ENSG00000011600.7 | ENST00000424586.3,ENST00000586946.1,ENST00000589517.1 |
| exon_skip_317667 | 19 | 36395461:36395536:36398119:36398166:36398347:36398482 | 36398119:36398166 | ENSG00000011600.7 | ENST00000587837.1,ENST00000544690.2,ENST00000262629.4,ENST00000588439.1 |
| exon_skip_317668 | 19 | 36395461:36395536:36398119:36398259:36398347:36398482 | 36398119:36398259 | ENSG00000011600.7 | ENST00000585901.2 |
| exon_skip_317669 | 19 | 36398119:36398166:36398347:36398482:36398631:36398664 | 36398347:36398482 | ENSG00000011600.7 | ENST00000587837.1,ENST00000262629.4 |
| exon_skip_317671 | 19 | 36398465:36398482:36398631:36398664:36399069:36399125 | 36398631:36398664 | ENSG00000011600.7 | ENST00000585901.2,ENST00000262629.4,ENST00000589517.1,ENST00000585626.1 |
| exon_skip_317672 | 19 | 36398465:36398482:36398631:36398664:36399076:36399197 | 36398631:36398664 | ENSG00000011600.7 | ENST00000586946.1 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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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 TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000262629 | 36398119 | 36398166 | Frame-shift |
| ENST00000262629 | 36398347 | 36398482 | In-frame |
| ENST00000262629 | 36398631 | 36398664 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000262629 | 36398119 | 36398166 | Frame-shift |
| ENST00000262629 | 36398347 | 36398482 | In-frame |
| ENST00000262629 | 36398631 | 36398664 | In-frame |
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Infer the effects of exon skipping event on protein functional features for TYROBP |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA 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 | 36398631 | 36398664 | 129 | 161 | 20 | 31 |
| ENST00000262629 | 585 | 113 | 36398347 | 36398482 | 162 | 296 | 31 | 76 |
| Loci of skipped exons in GTEx 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 | 36398631 | 36398664 | 129 | 161 | 20 | 31 |
| ENST00000262629 | 585 | 113 | 36398347 | 36398482 | 162 | 296 | 31 | 76 |
| Lost protein functional features of individual exon skipping events in TCGA. |
| 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 |
| O43914 | 31 | 76 | 22 | 113 | Chain | ID=PRO_0000022603;Note=TYRO protein tyrosine kinase-binding protein |
| O43914 | 31 | 76 | 35 | 35 | Disulfide bond | Note=Interchain;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20890284;Dbxref=PMID:20890284 |
| O43914 | 31 | 76 | 40 | 65 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4WOL |
| O43914 | 31 | 76 | 54 | 54 | Mutagenesis | Note=Reduced interaction with KLRC2 and KIR2DS3. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20890284;Dbxref=PMID:20890284 |
| O43914 | 31 | 76 | 54 | 54 | Site | Note=Important for interaction with transmembrane receptors |
| O43914 | 31 | 76 | 22 | 40 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O43914 | 31 | 76 | 62 | 113 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O43914 | 31 | 76 | 41 | 61 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Lost protein functional features of individual exon skipping events in GTEx. |
| 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 |
| O43914 | 31 | 76 | 22 | 113 | Chain | ID=PRO_0000022603;Note=TYRO protein tyrosine kinase-binding protein |
| O43914 | 31 | 76 | 35 | 35 | Disulfide bond | Note=Interchain;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20890284;Dbxref=PMID:20890284 |
| O43914 | 31 | 76 | 40 | 65 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4WOL |
| O43914 | 31 | 76 | 54 | 54 | Mutagenesis | Note=Reduced interaction with KLRC2 and KIR2DS3. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20890284;Dbxref=PMID:20890284 |
| O43914 | 31 | 76 | 54 | 54 | Site | Note=Important for interaction with transmembrane receptors |
| O43914 | 31 | 76 | 22 | 40 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O43914 | 31 | 76 | 62 | 113 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O43914 | 31 | 76 | 41 | 61 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for TYROBP |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| STAD | TCGA-VQ-A8P2-01 | exon_skip_317669 | 36398348 | 36398482 | 36398364 | 36398364 | Frame_Shift_Del | C | - | p.G71fs |
| STAD | TCGA-VQ-A8P2-01 | exon_skip_317669 | 36398348 | 36398482 | 36398364 | 36398364 | Frame_Shift_Del | C | - | p.R72fs |
| LUSC | TCGA-66-2766-01 | exon_skip_317669 | 36398348 | 36398482 | 36398483 | 36398483 | Splice_Site | C | T | p.D32_splice |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - 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 |
| HEC108_ENDOMETRIUM | 36398348 | 36398482 | 36398467 | 36398467 | Missense_Mutation | G | A | p.T37M |
| SNU1040_LARGE_INTESTINE | 36398348 | 36398482 | 36398467 | 36398467 | Missense_Mutation | G | A | p.T37M |
| MEWO_SKIN | 36398632 | 36398664 | 36398656 | 36398656 | Missense_Mutation | G | A | p.P24S |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TYROBP |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TYROBP |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TYROBP |
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RelatedDrugs for TYROBP |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | 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 |
| TYROBP | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| TYROBP | C0023895 | Liver diseases | 1 | CTD_human |
| TYROBP | C0036341 | Schizophrenia | 1 | PSYGENET |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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