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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 BCAR1 |
 Gene summary |
| Gene information | Gene symbol | BCAR1 | Gene ID | 9564 |
| Gene name | BCAR1, Cas family scaffold protein | |
| Synonyms | CAS|CAS1|CASS1|CRKAS|P130Cas | |
| Cytomap | 16q23.1 | |
| Type of gene | protein-coding | |
| Description | breast cancer anti-estrogen resistance protein 1BCAR1, Cas family scaffolding proteinCas scaffolding protein family member 1Crk-associated substrate p130Cas | |
| Modification date | 20180523 | |
| UniProtAcc | P56945 | |
| Context | PubMed: BCAR1 [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 |
| BCAR1 | GO:0007015 | actin filament organization | 16105984 |
| BCAR1 | GO:0007229 | integrin-mediated signaling pathway | 8649368 |
| BCAR1 | GO:0010595 | positive regulation of endothelial cell migration | 21245381 |
| BCAR1 | GO:0016477 | cell migration | 9425168 |
| BCAR1 | GO:0030335 | positive regulation of cell migration | 9472046 |
| BCAR1 | GO:0050851 | antigen receptor-mediated signaling pathway | 10587647 |
| BCAR1 | GO:0050853 | B cell receptor signaling pathway | 9020138 |
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Exon skipping events across known transcript of Ensembl for BCAR1 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 BCAR1 |
| 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 BCAR1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_146198 | 16 | 75263408:75263921:75267743:75267833:75268786:75269884 | 75267743:75267833 | ENSG00000050820.12 | ENST00000542031.2,ENST00000563038.1,ENST00000562556.1,ENST00000566982.1,ENST00000546196.1,ENST00000393422.2,ENST00000538440.2,ENST00000393420.6,ENST00000162330.5,ENST00000418647.3,ENST00000535626.2,ENST00000420641.3 |
| exon_skip_146201 | 16 | 75269565:75269884:75270725:75270896:75271080:75271242 | 75270725:75270896 | ENSG00000050820.12 | ENST00000393420.6 |
| exon_skip_146203 | 16 | 75269565:75269884:75270779:75270896:75271080:75271242 | 75270779:75270896 | ENSG00000050820.12 | ENST00000542031.2,ENST00000562556.1,ENST00000566982.1,ENST00000546196.1,ENST00000393422.2,ENST00000538440.2,ENST00000162330.5,ENST00000418647.3,ENST00000535626.2,ENST00000420641.3 |
| exon_skip_146204 | 16 | 75269565:75269884:75271080:75271242:75276367:75276460 | 75271080:75271242 | ENSG00000050820.12 | ENST00000569340.1 |
| exon_skip_146209 | 16 | 75276952:75276988:75286132:75286296:75299722:75299846 | 75286132:75286296 | ENSG00000050820.12 | ENST00000535626.2 |
| exon_skip_146210 | 16 | 75276952:75276988:75298248:75298499:75299722:75299846 | 75298248:75298499 | ENSG00000050820.12 | ENST00000418647.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for BCAR1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_146198 | 16 | 75263408:75263921:75267743:75267833:75268786:75269884 | 75267743:75267833 | ENSG00000050820.12 | ENST00000162330.5,ENST00000562556.1,ENST00000546196.1,ENST00000563038.1,ENST00000566982.1,ENST00000393422.2,ENST00000535626.2,ENST00000538440.2,ENST00000418647.3,ENST00000542031.2,ENST00000420641.3,ENST00000393420.6 |
| exon_skip_146201 | 16 | 75269565:75269884:75270725:75270896:75271080:75271242 | 75270725:75270896 | ENSG00000050820.12 | ENST00000393420.6 |
| exon_skip_146203 | 16 | 75269565:75269884:75270779:75270896:75271080:75271242 | 75270779:75270896 | ENSG00000050820.12 | ENST00000162330.5,ENST00000562556.1,ENST00000546196.1,ENST00000566982.1,ENST00000393422.2,ENST00000535626.2,ENST00000538440.2,ENST00000418647.3,ENST00000542031.2,ENST00000420641.3 |
| exon_skip_146204 | 16 | 75269565:75269884:75271080:75271242:75276367:75276460 | 75271080:75271242 | ENSG00000050820.12 | ENST00000569340.1 |
| exon_skip_146209 | 16 | 75276952:75276988:75286132:75286296:75299722:75299846 | 75286132:75286296 | ENSG00000050820.12 | ENST00000535626.2 |
| exon_skip_146210 | 16 | 75276952:75276988:75298248:75298499:75299722:75299846 | 75298248:75298499 | ENSG00000050820.12 | ENST00000418647.3 |
| 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 BCAR1 |
| 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 |
| 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 |
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Infer the effects of exon skipping event on protein functional features for BCAR1 |
| 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 BCAR1 |
| - 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 |
| STAD | TCGA-HU-A4G8-01 | exon_skip_146204 | 75271081 | 75271242 | 75271108 | 75271108 | Frame_Shift_Del | C | - | p.G256fs |
| PRAD | TCGA-EJ-A65B-01 | exon_skip_146204 | 75271081 | 75271242 | 75271144 | 75271144 | Frame_Shift_Del | C | - | p.G215fs |
| LGG | TCGA-HT-A74H-01 | exon_skip_146204 | 75271081 | 75271242 | 75271148 | 75271148 | Frame_Shift_Del | G | - | p.P214fs |
| BRCA | TCGA-D8-A1JD-01 | exon_skip_146198 | 75267744 | 75267833 | 75267803 | 75267803 | Nonsense_Mutation | C | A | p.E681* |
| UCEC | TCGA-BS-A0UJ-01 | exon_skip_146198 | 75267744 | 75267833 | 75267742 | 75267742 | Splice_Site | A | G | e6+2 |
| - 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 |
| HEC151_ENDOMETRIUM | 75271081 | 75271242 | 75271108 | 75271108 | Frame_Shift_Del | C | - | p.G256fs |
| SEKI_SKIN | 75270780 | 75270896 | 75270875 | 75270876 | Frame_Shift_Ins | - | TATGGGG | p.A273fs |
| SEKI_SKIN | 75270726 | 75270896 | 75270875 | 75270876 | Frame_Shift_Ins | - | TATGGGG | p.A273fs |
| HCT116_LARGE_INTESTINE | 75270780 | 75270896 | 75270878 | 75270879 | Frame_Shift_Ins | - | G | p.M272fs |
| HCT116_LARGE_INTESTINE | 75270726 | 75270896 | 75270878 | 75270879 | Frame_Shift_Ins | - | G | p.M272fs |
| ABC1_LUNG | 75270780 | 75270896 | 75270872 | 75270872 | Missense_Mutation | C | A | p.V274F |
| ABC1_LUNG | 75270726 | 75270896 | 75270872 | 75270872 | Missense_Mutation | C | A | p.V274F |
| L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 75271081 | 75271242 | 75271098 | 75271098 | Missense_Mutation | T | C | p.S260G |
| SW684_SOFT_TISSUE | 75271081 | 75271242 | 75271100 | 75271100 | Missense_Mutation | G | A | p.P259L |
| HEC59_ENDOMETRIUM | 75271081 | 75271242 | 75271113 | 75271113 | Missense_Mutation | G | A | p.R255W |
| MEWO_SKIN | 75271081 | 75271242 | 75271119 | 75271119 | Missense_Mutation | G | A | p.P253S |
| A253_SALIVARY_GLAND | 75271081 | 75271242 | 75271227 | 75271227 | Missense_Mutation | G | A | p.R217C |
| SNU1040_LARGE_INTESTINE | 75270780 | 75270896 | 75270854 | 75270854 | Nonsense_Mutation | G | A | p.R280* |
| SNU1040_LARGE_INTESTINE | 75270726 | 75270896 | 75270854 | 75270854 | Nonsense_Mutation | G | A | p.R280* |
| JHUEM1_ENDOMETRIUM | 75298249 | 75298499 | 75298250 | 75298250 | Splice_Site | G | A | p.P50L |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for BCAR1 |
| 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 |
| exon_skip_146201 | 16 | 75269565:75269884:75270725:75270896:75271080:75271242 | 75270725:75270896 | ENST00000393420.6 | HNSC | rs2278020 | chr16:75270721 | C/A | 2.41e-24 |
| exon_skip_146201 | 16 | 75269565:75269884:75270725:75270896:75271080:75271242 | 75270725:75270896 | ENST00000393420.6 | READ | rs2278020 | chr16:75270721 | C/A | 2.03e-06 |
| exon_skip_146201 | 16 | 75269565:75269884:75270725:75270896:75271080:75271242 | 75270725:75270896 | ENST00000393420.6 | THCA | rs2278020 | chr16:75270721 | C/A | 4.12e-06 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for BCAR1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for BCAR1 |
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RelatedDrugs for BCAR1 |
| 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 BCAR1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| BCAR1 | C0027626 | Neoplasm Invasiveness | 1 | CTD_human |
| BCAR1 | C0030297 | Pancreatic Neoplasm | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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