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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 TBX5 |
 Gene summary |
| Gene information | Gene symbol | TBX5 | Gene ID | 6910 |
| Gene name | T-box 5 | |
| Synonyms | HOS | |
| Cytomap | 12q24.21 | |
| Type of gene | protein-coding | |
| Description | T-box transcription factor TBX5T-box protein 5 | |
| Modification date | 20180519 | |
| UniProtAcc | Q99593 | |
| Context | PubMed: TBX5 [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 |
| TBX5 | GO:0007267 | cell-cell signaling | 11161571 |
| TBX5 | GO:0007507 | heart development | 15138308 |
| TBX5 | GO:0008285 | negative regulation of cell proliferation | 11161571|12237100 |
| TBX5 | GO:0030336 | negative regulation of cell migration | 15138308 |
| TBX5 | GO:0045893 | positive regulation of transcription, DNA-templated | 11431700|12499378|12845333|16332960|27035640 |
| TBX5 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 29174768 |
| TBX5 | GO:0051891 | positive regulation of cardioblast differentiation | 11431700 |
| TBX5 | GO:0060039 | pericardium development | 15138308 |
| TBX5 | GO:0060044 | negative regulation of cardiac muscle cell proliferation | 11161571 |
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Exon skipping events across known transcript of Ensembl for TBX5 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 TBX5 |
| 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 TBX5 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_96967 | 12 | 114839630:114839725:114841556:114841741:114845618:114846192 | 114841556:114841741 | ENSG00000089225.15 | ENST00000310346.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for TBX5 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_96967 | 12 | 114839630:114839725:114841556:114841741:114845618:114846192 | 114841556:114841741 | ENSG00000089225.15 | ENST00000310346.4 |
| 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 TBX5 |
| 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 |
| ENST00000310346 | 114841556 | 114841741 | 3UTR-3CDS |
| 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 |
| ENST00000310346 | 114841556 | 114841741 | 3UTR-3CDS |
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Infer the effects of exon skipping event on protein functional features for TBX5 |
| 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 |
| 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 |
| 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 |
| 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 |
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SNVs in the skipped exons for TBX5 |
| - 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 |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_96967 | 114841557 | 114841741 | 114841599 | 114841599 | Frame_Shift_Del | G | - | p.P35fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_96967 | 114841557 | 114841741 | 114841599 | 114841599 | Frame_Shift_Del | G | - | p.P35fs |
| STAD | TCGA-CG-5723-01 | exon_skip_96967 | 114841557 | 114841741 | 114841604 | 114841604 | Frame_Shift_Del | C | - | p.A34fs |
| LUAD | TCGA-73-4659-01 | exon_skip_96967 | 114841557 | 114841741 | 114841688 | 114841688 | Nonsense_Mutation | C | A | p.E6* |
| - 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 |
| FARAGE_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 114841557 | 114841741 | 114841604 | 114841604 | Missense_Mutation | C | G | p.A34P |
| TE4_OESOPHAGUS | 114841557 | 114841741 | 114841606 | 114841606 | Missense_Mutation | C | A | p.G33V |
| TE1_OESOPHAGUS | 114841557 | 114841741 | 114841622 | 114841622 | Missense_Mutation | G | A | p.P28S |
| BICR22_UPPER_AERODIGESTIVE_TRACT | 114841557 | 114841741 | 114841631 | 114841631 | Missense_Mutation | C | T | p.D25N |
| SW626_OVARY | 114841557 | 114841741 | 114841637 | 114841638 | Missense_Mutation | GC | TT | p.P23T |
| KM12_LARGE_INTESTINE | 114841557 | 114841741 | 114841649 | 114841649 | Missense_Mutation | C | T | p.A19T |
| AM38_CENTRAL_NERVOUS_SYSTEM | 114841557 | 114841741 | 114841652 | 114841652 | Missense_Mutation | C | G | p.D18H |
| DBTRG05MG_CENTRAL_NERVOUS_SYSTEM | 114841557 | 114841741 | 114841664 | 114841664 | Missense_Mutation | G | T | p.P14T |
| LOXIMVI_SKIN | 114841557 | 114841741 | 114841673 | 114841673 | Missense_Mutation | C | T | p.A11T |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TBX5 |
| 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 TBX5 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TBX5 |
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RelatedDrugs for TBX5 |
| 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 TBX5 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| TBX5 | C0265264 | Holt-Oram syndrome | 3 | CTD_human;ORPHANET;UNIPROT |
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