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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 BCAR3 |
 Gene summary |
| Gene information | Gene symbol | BCAR3 | Gene ID | 8412 |
| Gene name | BCAR3, NSP family adaptor protein | |
| Synonyms | AND-34|NSP2|SH2D3B | |
| Cytomap | 1p22.1 | |
| Type of gene | protein-coding | |
| Description | breast cancer anti-estrogen resistance protein 3SH2 domain-containing protein 3Bbreast cancer anti-estrogen resistance 3breast cancer antiestrogen resistance 3 proteindJ1033H22.2 (breast cancer anti-estrogen resistance 3)novel SH2-containing protein | |
| Modification date | 20180519 | |
| UniProtAcc | O75815 | |
| Context | PubMed: BCAR3 [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 BCAR3 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 BCAR3 |
| 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 BCAR3 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_28555 | 1 | 94033296:94033408:94037226:94037398:94041570:94041686 | 94037226:94037398 | ENSG00000137936.12 | ENST00000260502.6,ENST00000370244.1,ENST00000539242.1,ENST00000370243.1,ENST00000370247.3 |
| exon_skip_28556 | 1 | 94037226:94037398:94041570:94041686:94047857:94048510 | 94041570:94041686 | ENSG00000137936.12 | ENST00000260502.6,ENST00000370244.1,ENST00000539242.1,ENST00000370243.1,ENST00000370247.3 |
| exon_skip_28557 | 1 | 94047857:94048510:94049574:94049678:94050528:94050658 | 94049574:94049678 | ENSG00000137936.12 | ENST00000466632.1,ENST00000539242.1 |
| exon_skip_28562 | 1 | 94054639:94054976:94057821:94057950:94107859:94107899 | 94057821:94057950 | ENSG00000137936.12 | ENST00000260502.6,ENST00000370244.1,ENST00000370243.1 |
| exon_skip_28564 | 1 | 94057862:94057950:94107859:94107899:94140169:94140497 | 94107859:94107899 | ENSG00000137936.12 | ENST00000260502.6,ENST00000370244.1,ENST00000370243.1 |
| exon_skip_28569 | 1 | 94107859:94107899:94140169:94140497:94147153:94147385 | 94140169:94140497 | ENSG00000137936.12 | ENST00000260502.6 |
| exon_skip_28570 | 1 | 94107859:94107899:94140169:94140497:94171647:94171698 | 94140169:94140497 | ENSG00000137936.12 | ENST00000370244.1 |
| exon_skip_28571 | 1 | 94140169:94140497:94171647:94171698:94311122:94311268 | 94171647:94171698 | ENSG00000137936.12 | ENST00000370244.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for BCAR3 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_28555 | 1 | 94033296:94033408:94037226:94037398:94041570:94041686 | 94037226:94037398 | ENSG00000137936.12 | ENST00000370247.3,ENST00000260502.6,ENST00000370244.1,ENST00000370243.1,ENST00000539242.1 |
| exon_skip_28556 | 1 | 94037226:94037398:94041570:94041686:94047857:94048510 | 94041570:94041686 | ENSG00000137936.12 | ENST00000370247.3,ENST00000260502.6,ENST00000370244.1,ENST00000370243.1,ENST00000539242.1 |
| exon_skip_28557 | 1 | 94047857:94048510:94049574:94049678:94050528:94050658 | 94049574:94049678 | ENSG00000137936.12 | ENST00000539242.1,ENST00000466632.1 |
| exon_skip_28562 | 1 | 94054639:94054976:94057821:94057950:94107859:94107899 | 94057821:94057950 | ENSG00000137936.12 | ENST00000260502.6,ENST00000370244.1,ENST00000370243.1 |
| exon_skip_28564 | 1 | 94057862:94057950:94107859:94107899:94140169:94140497 | 94107859:94107899 | ENSG00000137936.12 | ENST00000260502.6,ENST00000370244.1,ENST00000370243.1 |
| exon_skip_28565 | 1 | 94107859:94107899:94112032:94112130:94114283:94114378 | 94112032:94112130 | ENSG00000137936.12 | ENST00000479503.2 |
| exon_skip_28569 | 1 | 94107859:94107899:94140169:94140497:94147153:94147385 | 94140169:94140497 | ENSG00000137936.12 | ENST00000260502.6 |
| exon_skip_28570 | 1 | 94107859:94107899:94140169:94140497:94171647:94171698 | 94140169:94140497 | ENSG00000137936.12 | ENST00000370244.1 |
| exon_skip_28571 | 1 | 94140169:94140497:94171647:94171698:94311122:94311268 | 94171647:94171698 | ENSG00000137936.12 | ENST00000370244.1 |
| 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 BCAR3 |
| 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 |
| ENST00000260502 | 94140169 | 94140497 | 3UTR-3CDS |
| ENST00000370244 | 94140169 | 94140497 | 3UTR-3CDS |
| ENST00000370244 | 94171647 | 94171698 | 3UTR-3UTR |
| ENST00000260502 | 94037226 | 94037398 | Frame-shift |
| ENST00000370243 | 94037226 | 94037398 | Frame-shift |
| ENST00000370244 | 94037226 | 94037398 | Frame-shift |
| ENST00000260502 | 94041570 | 94041686 | Frame-shift |
| ENST00000370243 | 94041570 | 94041686 | Frame-shift |
| ENST00000370244 | 94041570 | 94041686 | Frame-shift |
| ENST00000260502 | 94107859 | 94107899 | Frame-shift |
| ENST00000370243 | 94107859 | 94107899 | Frame-shift |
| ENST00000370244 | 94107859 | 94107899 | Frame-shift |
| ENST00000260502 | 94057821 | 94057950 | In-frame |
| ENST00000370243 | 94057821 | 94057950 | In-frame |
| ENST00000370244 | 94057821 | 94057950 | 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 |
| ENST00000260502 | 94140169 | 94140497 | 3UTR-3CDS |
| ENST00000370244 | 94140169 | 94140497 | 3UTR-3CDS |
| ENST00000370244 | 94171647 | 94171698 | 3UTR-3UTR |
| ENST00000260502 | 94037226 | 94037398 | Frame-shift |
| ENST00000370243 | 94037226 | 94037398 | Frame-shift |
| ENST00000370244 | 94037226 | 94037398 | Frame-shift |
| ENST00000260502 | 94041570 | 94041686 | Frame-shift |
| ENST00000370243 | 94041570 | 94041686 | Frame-shift |
| ENST00000370244 | 94041570 | 94041686 | Frame-shift |
| ENST00000260502 | 94107859 | 94107899 | Frame-shift |
| ENST00000370243 | 94107859 | 94107899 | Frame-shift |
| ENST00000370244 | 94107859 | 94107899 | Frame-shift |
| ENST00000260502 | 94057821 | 94057950 | In-frame |
| ENST00000370243 | 94057821 | 94057950 | In-frame |
| ENST00000370244 | 94057821 | 94057950 | In-frame |
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Infer the effects of exon skipping event on protein functional features for BCAR3 |
| 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 |
| ENST00000260502 | 3188 | 825 | 94057821 | 94057950 | 601 | 729 | 119 | 162 |
| ENST00000370243 | 3217 | 825 | 94057821 | 94057950 | 633 | 761 | 119 | 162 |
| ENST00000370244 | 3234 | 825 | 94057821 | 94057950 | 647 | 775 | 119 | 162 |
| 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 |
| ENST00000260502 | 3188 | 825 | 94057821 | 94057950 | 601 | 729 | 119 | 162 |
| ENST00000370243 | 3217 | 825 | 94057821 | 94057950 | 633 | 761 | 119 | 162 |
| ENST00000370244 | 3234 | 825 | 94057821 | 94057950 | 647 | 775 | 119 | 162 |
| 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 |
| O75815 | 119 | 162 | 1 | 324 | Alternative sequence | ID=VSP_017814;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12975309;Dbxref=PMID:12975309 |
| O75815 | 119 | 162 | 1 | 324 | Alternative sequence | ID=VSP_017814;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12975309;Dbxref=PMID:12975309 |
| O75815 | 119 | 162 | 1 | 324 | Alternative sequence | ID=VSP_017814;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12975309;Dbxref=PMID:12975309 |
| O75815 | 119 | 162 | 2 | 825 | Chain | ID=PRO_0000230284;Note=Breast cancer anti-estrogen resistance protein 3 |
| O75815 | 119 | 162 | 2 | 825 | Chain | ID=PRO_0000230284;Note=Breast cancer anti-estrogen resistance protein 3 |
| O75815 | 119 | 162 | 2 | 825 | Chain | ID=PRO_0000230284;Note=Breast cancer anti-estrogen resistance protein 3 |
| O75815 | 119 | 162 | 154 | 253 | Domain | Note=SH2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00191 |
| O75815 | 119 | 162 | 154 | 253 | Domain | Note=SH2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00191 |
| O75815 | 119 | 162 | 154 | 253 | Domain | Note=SH2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00191 |
| 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 |
| O75815 | 119 | 162 | 1 | 324 | Alternative sequence | ID=VSP_017814;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12975309;Dbxref=PMID:12975309 |
| O75815 | 119 | 162 | 1 | 324 | Alternative sequence | ID=VSP_017814;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12975309;Dbxref=PMID:12975309 |
| O75815 | 119 | 162 | 1 | 324 | Alternative sequence | ID=VSP_017814;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12975309;Dbxref=PMID:12975309 |
| O75815 | 119 | 162 | 2 | 825 | Chain | ID=PRO_0000230284;Note=Breast cancer anti-estrogen resistance protein 3 |
| O75815 | 119 | 162 | 2 | 825 | Chain | ID=PRO_0000230284;Note=Breast cancer anti-estrogen resistance protein 3 |
| O75815 | 119 | 162 | 2 | 825 | Chain | ID=PRO_0000230284;Note=Breast cancer anti-estrogen resistance protein 3 |
| O75815 | 119 | 162 | 154 | 253 | Domain | Note=SH2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00191 |
| O75815 | 119 | 162 | 154 | 253 | Domain | Note=SH2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00191 |
| O75815 | 119 | 162 | 154 | 253 | Domain | Note=SH2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00191 |
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SNVs in the skipped exons for BCAR3 |
| - 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-A39Y-01 | exon_skip_28555 | 94037227 | 94037398 | 94037274 | 94037274 | Frame_Shift_Del | C | - | p.D643fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_28555 | 94037227 | 94037398 | 94037274 | 94037274 | Frame_Shift_Del | C | - | p.D643fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_28556 | 94041571 | 94041686 | 94041638 | 94041638 | Frame_Shift_Del | C | - | p.V579fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_28556 | 94041571 | 94041686 | 94041638 | 94041638 | Frame_Shift_Del | C | - | p.V579fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_28557 | 94049575 | 94049678 | 94049606 | 94049606 | Frame_Shift_Del | T | - | p.K334fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_28562 | 94057822 | 94057950 | 94057827 | 94057827 | Frame_Shift_Del | G | - | p.R161fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_28569 exon_skip_28570 | 94140170 | 94140497 | 94140264 | 94140264 | Frame_Shift_Del | G | - | p.H75fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_28569 exon_skip_28570 | 94140170 | 94140497 | 94140264 | 94140264 | Frame_Shift_Del | G | - | p.H75fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_28569 exon_skip_28570 | 94140170 | 94140497 | 94140319 | 94140319 | Frame_Shift_Del | T | - | p.K56fs |
| HNSC | TCGA-CN-5364-01 | exon_skip_28555 | 94037227 | 94037398 | 94037258 | 94037258 | Nonsense_Mutation | G | C | p.S648* |
| - 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 |
| RKO_LARGE_INTESTINE | 94037227 | 94037398 | 94037256 | 94037256 | Missense_Mutation | C | A | p.A649S |
| SCLC22H_LUNG | 94057822 | 94057950 | 94057860 | 94057860 | Missense_Mutation | G | T | p.R150S |
| SCLC21H_LUNG | 94057822 | 94057950 | 94057860 | 94057860 | Missense_Mutation | G | T | p.R150S |
| MEWO_SKIN | 94057822 | 94057950 | 94057945 | 94057946 | Missense_Mutation | GG | AA | p.S121F |
| MEWO_SKIN | 94057822 | 94057950 | 94057946 | 94057946 | Missense_Mutation | G | A | p.S121F |
| LOUCY_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 94140170 | 94140497 | 94140266 | 94140266 | Missense_Mutation | G | T | p.P74H |
| HCT15_LARGE_INTESTINE | 94140170 | 94140497 | 94140341 | 94140341 | Missense_Mutation | C | T | p.G49D |
| MELHO_SKIN | 94140170 | 94140497 | 94140344 | 94140344 | Missense_Mutation | T | C | p.H48R |
| HCC2998_LARGE_INTESTINE | 94140170 | 94140497 | 94140351 | 94140351 | Missense_Mutation | A | G | p.S46P |
| NCIH226_LUNG | 94140170 | 94140497 | 94140429 | 94140429 | Missense_Mutation | G | T | p.P20T |
| LB996RCC_KIDNEY | 94140170 | 94140497 | 94140476 | 94140476 | Missense_Mutation | C | T | p.G4E |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for BCAR3 |
| 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 BCAR3 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for BCAR3 |
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RelatedDrugs for BCAR3 |
| 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 BCAR3 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| BCAR3 | C0236969 | Substance-Related Disorders | 1 | CTD_human |
| BCAR3 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
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