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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 BCAS4 |
 Gene summary |
| Gene information | Gene symbol | BCAS4 | Gene ID | 55653 |
| Gene name | breast carcinoma amplified sequence 4 | |
| Synonyms | CNOL | |
| Cytomap | 20q13.13 | |
| Type of gene | protein-coding | |
| Description | breast carcinoma-amplified sequence 4BCAS4/BCAS3 fusionbreast carcinoma amplified sequence 4/3 fusion protein | |
| Modification date | 20180523 | |
| UniProtAcc | Q8TDM0 | |
| Context | PubMed: BCAS4 [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 BCAS4 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 BCAS4 |
| 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 BCAS4 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_352959 | 20 | 49411636:49411710:49434747:49434819:49446815:49446917 | 49434747:49434819 | ENSG00000124243.13 | ENST00000485049.1,ENST00000445038.1,ENST00000371608.2,ENST00000262591.5,ENST00000463943.1,ENST00000609336.1 |
| exon_skip_352961 | 20 | 49434747:49434819:49446815:49446917:49458302:49458437 | 49446815:49446917 | ENSG00000124243.13 | ENST00000358791.5,ENST00000371608.2,ENST00000609336.1 |
| exon_skip_352962 | 20 | 49434747:49434819:49446815:49446917:49493022:49493109 | 49446815:49446917 | ENSG00000124243.13 | ENST00000445038.1,ENST00000262591.5 |
| exon_skip_352976 | 20 | 49446820:49446917:49457073:49457467:49458302:49458437 | 49457073:49457467 | ENSG00000124243.13 | ENST00000463943.1 |
| exon_skip_352977 | 20 | 49446815:49446917:49458302:49458437:49492533:49492630 | 49458302:49458437 | ENSG00000124243.13 | ENST00000358791.5,ENST00000609336.1 |
| exon_skip_352978 | 20 | 49446820:49446917:49458302:49458437:49493022:49493109 | 49458302:49458437 | ENSG00000124243.13 | ENST00000371608.2 |
| exon_skip_352988 | 20 | 49458302:49458437:49492533:49492630:49493022:49493109 | 49492533:49492630 | ENSG00000124243.13 | ENST00000358791.5,ENST00000609336.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for BCAS4 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_352959 | 20 | 49411636:49411710:49434747:49434819:49446815:49446917 | 49434747:49434819 | ENSG00000124243.13 | ENST00000262591.5,ENST00000371608.2,ENST00000609336.1,ENST00000445038.1,ENST00000463943.1,ENST00000485049.1 |
| exon_skip_352961 | 20 | 49434747:49434819:49446815:49446917:49458302:49458437 | 49446815:49446917 | ENSG00000124243.13 | ENST00000358791.5,ENST00000371608.2,ENST00000609336.1 |
| exon_skip_352962 | 20 | 49434747:49434819:49446815:49446917:49493022:49493109 | 49446815:49446917 | ENSG00000124243.13 | ENST00000262591.5,ENST00000445038.1 |
| exon_skip_352976 | 20 | 49446820:49446917:49457073:49457467:49458302:49458437 | 49457073:49457467 | ENSG00000124243.13 | ENST00000463943.1 |
| exon_skip_352977 | 20 | 49446815:49446917:49458302:49458437:49492533:49492630 | 49458302:49458437 | ENSG00000124243.13 | ENST00000358791.5,ENST00000609336.1 |
| exon_skip_352978 | 20 | 49446820:49446917:49458302:49458437:49493022:49493109 | 49458302:49458437 | ENSG00000124243.13 | ENST00000371608.2 |
| exon_skip_352988 | 20 | 49458302:49458437:49492533:49492630:49493022:49493109 | 49492533:49492630 | ENSG00000124243.13 | ENST00000358791.5,ENST00000609336.1 |
| 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 BCAS4 |
| 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 |
| ENST00000358791 | 49492533 | 49492630 | Frame-shift |
| ENST00000358791 | 49446815 | 49446917 | In-frame |
| ENST00000358791 | 49458302 | 49458437 | 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 |
| ENST00000358791 | 49492533 | 49492630 | Frame-shift |
| ENST00000358791 | 49446815 | 49446917 | In-frame |
| ENST00000358791 | 49458302 | 49458437 | In-frame |
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Infer the effects of exon skipping event on protein functional features for BCAS4 |
| 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 |
| ENST00000358791 | 1395 | 211 | 49446815 | 49446917 | 353 | 454 | 84 | 118 |
| ENST00000358791 | 1395 | 211 | 49458302 | 49458437 | 455 | 589 | 118 | 163 |
| 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 |
| ENST00000358791 | 1395 | 211 | 49446815 | 49446917 | 353 | 454 | 84 | 118 |
| ENST00000358791 | 1395 | 211 | 49458302 | 49458437 | 455 | 589 | 118 | 163 |
| 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 BCAS4 |
| - 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 |
| - 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 |
| SNU719_STOMACH | 49434748 | 49434819 | 49434805 | 49434805 | Missense_Mutation | A | G | p.S80G |
| SCS214_SOFT_TISSUE | 49446816 | 49446917 | 49446855 | 49446855 | Missense_Mutation | C | T | p.P98S |
| UMUC1_URINARY_TRACT | 49458303 | 49458437 | 49458426 | 49458427 | Missense_Mutation | TC | AA | p.S160N |
| HCC1500_BREAST | 49492534 | 49492630 | 49492541 | 49492541 | Missense_Mutation | G | A | p.C166Y |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for BCAS4 |
| 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 BCAS4 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for BCAS4 |
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RelatedDrugs for BCAS4 |
| 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 BCAS4 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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