|
||||||
|
 | |
| |
| |
| |
| Open reading frame (ORF) annotation in the exon skipping event |
| |
| |
| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
| |
|
Gene summary for BBC3 |
 Gene summary |
| Gene information | Gene symbol | BBC3 | Gene ID | 27113 |
| Gene name | BCL2 binding component 3 | |
| Synonyms | JFY-1|JFY1|PUMA | |
| Cytomap | 19q13.32 | |
| Type of gene | protein-coding | |
| Description | bcl-2-binding component 3p53 up-regulated modulator of apoptosisp53-upregulated modulator of apoptosis | |
| Modification date | 20180527 | |
| UniProtAcc | Q9BXH1 | |
| Context | PubMed: BBC3 [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 |
Top |
Exon skipping events across known transcript of Ensembl for BBC3 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. |
 |
Top |
Gene isoform structures and expression levels for BBC3 |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for BBC3 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_319907 | 19 | 47724901:47725175:47729820:47730011:47735771:47736023 | 47729820:47730011 | ENSG00000105327.11 | ENST00000341983.4 |
| exon_skip_319911 | 19 | 47729833:47730011:47731414:47731703:47734185:47734451 | 47731414:47731703 | ENSG00000105327.11 | ENST00000439096.2 |
| exon_skip_319912 | 19 | 47729833:47730011:47731414:47731703:47735771:47736023 | 47731414:47731703 | ENSG00000105327.11 | ENST00000449228.1 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for BBC3 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_319907 | 19 | 47724901:47725175:47729820:47730011:47735771:47736023 | 47729820:47730011 | ENSG00000105327.11 | ENST00000341983.4 |
| exon_skip_319911 | 19 | 47729833:47730011:47731414:47731703:47734185:47734451 | 47731414:47731703 | ENSG00000105327.11 | ENST00000439096.2 |
| exon_skip_319912 | 19 | 47729833:47730011:47731414:47731703:47735771:47736023 | 47731414:47731703 | ENSG00000105327.11 | ENST00000449228.1 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for BBC3 |
| 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 |
| ENST00000439096 | 47731414 | 47731703 | 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 |
| ENST00000439096 | 47731414 | 47731703 | 3UTR-3CDS |
Top |
Infer the effects of exon skipping event on protein functional features for BBC3 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
 |
| 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 |
Top |
SNVs in the skipped exons for BBC3 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
 |
| - 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 |
| - 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 |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 47729821 | 47730011 | 47729874 | 47729874 | Missense_Mutation | C | G | p.G138R |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 47729821 | 47730011 | 47729907 | 47729907 | Missense_Mutation | G | A | p.R127C |
| CCK81_LARGE_INTESTINE | 47731415 | 47731703 | 47731490 | 47731490 | Missense_Mutation | C | T | p.A67T |
| HCC15_LUNG | 47731415 | 47731703 | 47731562 | 47731562 | Missense_Mutation | C | T | p.G43S |
| GI1_CENTRAL_NERVOUS_SYSTEM | 47731415 | 47731703 | 47731657 | 47731657 | Missense_Mutation | G | A | p.P11L |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for BBC3 |
| 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 |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for BBC3 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for BBC3 |
Top |
RelatedDrugs for BBC3 |
| 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 |
Top |
RelatedDiseases for BBC3 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| BBC3 | C0006413 | Burkitt Lymphoma | 1 | CTD_human |
| BBC3 | C0007786 | Brain Ischemia | 1 | CTD_human |
| BBC3 | C0014859 | Esophageal Neoplasms | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|