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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 BTG3 |
 Gene summary |
| Gene information | Gene symbol | BTG3 | Gene ID | 10950 |
| Gene name | BTG anti-proliferation factor 3 | |
| Synonyms | ANA|ANA/BTG3|APRO4|TOB5|TOB55|TOFA | |
| Cytomap | 21q21.1 | |
| Type of gene | protein-coding | |
| Description | protein BTG3B-cell translocation gene 3BTG family member 3abundant in neuroepithelium area proteinprotein Tob5 | |
| Modification date | 20180527 | |
| UniProtAcc | Q14201 | |
| Context | PubMed: BTG3 [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 |
| BTG3 | GO:0045930 | negative regulation of mitotic cell cycle | 9632145 |
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Exon skipping events across known transcript of Ensembl for BTG3 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 BTG3 |
| 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 BTG3 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_361313 | 21 | 18971038:18971142:18976462:18976594:18977177:18977315 | 18976462:18976594 | ENSG00000154640.10 | ENST00000339775.6 |
| exon_skip_361315 | 21 | 18971038:18971142:18977177:18977315:18981289:18981470 | 18977177:18977315 | ENSG00000154640.10 | ENST00000348354.6 |
| exon_skip_361324 | 21 | 18977177:18977315:18981289:18981470:18985016:18985162 | 18981289:18981470 | ENSG00000154640.10 | ENST00000348354.6 |
| exon_skip_361329 | 21 | 18981324:18981470:18983974:18984092:18985016:18985162 | 18983974:18984092 | ENSG00000154640.10 | ENST00000457956.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for BTG3 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_361313 | 21 | 18971038:18971142:18976462:18976594:18977177:18977315 | 18976462:18976594 | ENSG00000154640.10 | ENST00000339775.6 |
| exon_skip_361315 | 21 | 18971038:18971142:18977177:18977315:18981289:18981470 | 18977177:18977315 | ENSG00000154640.10 | ENST00000348354.6 |
| exon_skip_361324 | 21 | 18977177:18977315:18981289:18981470:18985016:18985162 | 18981289:18981470 | ENSG00000154640.10 | ENST00000348354.6 |
| exon_skip_361329 | 21 | 18981324:18981470:18983974:18984092:18985016:18985162 | 18983974:18984092 | ENSG00000154640.10 | ENST00000457956.1 |
| 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 BTG3 |
| 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 |
| ENST00000348354 | 18981289 | 18981470 | 3UTR-3CDS |
| ENST00000348354 | 18977177 | 18977315 | 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 |
| ENST00000348354 | 18981289 | 18981470 | 3UTR-3CDS |
| ENST00000348354 | 18977177 | 18977315 | In-frame |
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Infer the effects of exon skipping event on protein functional features for BTG3 |
| 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 |
| ENST00000348354 | 1473 | 252 | 18977177 | 18977315 | 431 | 568 | 58 | 103 |
| 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 |
| ENST00000348354 | 1473 | 252 | 18977177 | 18977315 | 431 | 568 | 58 | 103 |
| 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 |
| Q14201 | 58 | 103 | 1 | 252 | Chain | ID=PRO_0000143807;Note=Protein BTG3 |
| 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 |
| Q14201 | 58 | 103 | 1 | 252 | Chain | ID=PRO_0000143807;Note=Protein BTG3 |
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SNVs in the skipped exons for BTG3 |
| - 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-G3-A3CJ-01 | exon_skip_361324 | 18981290 | 18981470 | 18981313 | 18981313 | Frame_Shift_Del | T | - | p.K50fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_361324 | 18981290 | 18981470 | 18981340 | 18981340 | Frame_Shift_Del | T | - | p.K41fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_361324 | 18981290 | 18981470 | 18981340 | 18981340 | Frame_Shift_Del | T | - | p.Y42fs |
| STAD | TCGA-BR-8487-01 | exon_skip_361324 | 18981290 | 18981470 | 18981391 | 18981391 | Frame_Shift_Del | T | - | p.E25fs |
| STAD | TCGA-BR-8487-01 | exon_skip_361324 | 18981290 | 18981470 | 18981391 | 18981391 | Frame_Shift_Del | T | - | p.K24fs |
| BLCA | TCGA-GC-A3I6-01 | exon_skip_361315 | 18977178 | 18977315 | 18977218 | 18977218 | Nonsense_Mutation | C | A | p.E91* |
| COAD | TCGA-AA-3555-01 | exon_skip_361324 | 18981290 | 18981470 | 18981414 | 18981414 | Nonsense_Mutation | G | A | p.R17X |
| - 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 |
| SNU1040_LARGE_INTESTINE | 18977178 | 18977315 | 18977235 | 18977235 | Missense_Mutation | T | C | p.D85G |
| HCT116_LARGE_INTESTINE | 18977178 | 18977315 | 18977308 | 18977308 | Missense_Mutation | G | A | p.R61C |
| RCHACV_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 18977178 | 18977315 | 18977178 | 18977178 | Splice_Site | C | T | p.R104Q |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for BTG3 |
| 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 BTG3 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for BTG3 |
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RelatedDrugs for BTG3 |
| 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 BTG3 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| BTG3 | C0007134 | Renal Cell Carcinoma | 1 | CTD_human |
| BTG3 | C3495559 | Juvenile arthritis | 1 | CTD_human |
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