 Gene summary |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
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. |
ENSG00000135111
| 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 |
| STG | UP | 6.608832e+01 | 9.949758e-01 | 2.873820e-05 | 3.057961e-03 |
| PG | UP | 8.399917e+01 | 9.249873e-01 | 3.380708e-07 | 9.909825e-06 |
| 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 |
| PCC | UP | ENST00000552054.1 | TBX3-204:retained_intron:TBX3 | 8.544198e+00 | 8.004483e-01 | 1.594761e-04 | 8.063797e-03 |
| STG | UP | ENST00000349155.7 | TBX3-202:protein_coding:TBX3 | 4.952239e+01 | 8.796592e-01 | 5.193220e-04 | 2.755768e-02 |
| PG | UP | ENST00000349155.7 | TBX3-202:protein_coding:TBX3 | 6.571750e+01 | 1.054141e+00 | 1.173942e-06 | 1.000019e-04 |
| TC | UP | ENST00000552054.1 | TBX3-204:retained_intron:TBX3 | 1.343524e+01 | 8.021503e-01 | 9.834498e-05 | 1.591335e-03 |
| 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_45012 | chr12 | 114679505:114679651:114679913:114679972:114680879:114681146 | 114679913:114679972 |
| 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 |
| ENST00000257566 | 114679913 | 114679972 | 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 |
| ENST00000257566 | 114679913 | 114679972 | 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 |
| ENST00000257566 | 114679913 | 114679972 | In-frame |
p-ENSG00000135111_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 |
| ENST00000257566 | 4225 | 743 | 114679913 | 114679972 | 1048 | 1106 | 219 | 238 |
| 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 |
| ENST00000257566 | 4225 | 743 | 114679913 | 114679972 | 1048 | 1106 | 219 | 238 |
| 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 |
| ENST00000257566 | 4225 | 743 | 114679913 | 114679972 | 1048 | 1106 | 219 | 238 |
| 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 |
| O15119 | 219 | 238 | 221 | 240 | Alternative sequence | ID=VSP_006384;Note=In isoform I. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10468588,ECO:0000303|PubMed:9207801;Dbxref=PMID:10468588,PMID:9207801 |
| O15119 | 219 | 238 | 1 | 743 | Chain | ID=PRO_0000184428;Note=T-box transcription factor TBX3 |
| O15119 | 219 | 238 | 107 | 220 | DNA binding | Note=T-box%3B first part;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00201 |
| 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 |
| O15119 | 219 | 238 | 221 | 240 | Alternative sequence | ID=VSP_006384;Note=In isoform I. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10468588,ECO:0000303|PubMed:9207801;Dbxref=PMID:10468588,PMID:9207801 |
| O15119 | 219 | 238 | 1 | 743 | Chain | ID=PRO_0000184428;Note=T-box transcription factor TBX3 |
| O15119 | 219 | 238 | 107 | 220 | DNA binding | Note=T-box%3B first part;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00201 |
| 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 |
| O15119 | 219 | 238 | 221 | 240 | Alternative sequence | ID=VSP_006384;Note=In isoform I. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10468588,ECO:0000303|PubMed:9207801;Dbxref=PMID:10468588,PMID:9207801 |
| O15119 | 219 | 238 | 1 | 743 | Chain | ID=PRO_0000184428;Note=T-box transcription factor TBX3 |
| O15119 | 219 | 238 | 107 | 220 | DNA binding | Note=T-box%3B first part;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00201 |
| 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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