BCAR1
BCAR1 scaffold protein, Cas family member, the group of Cas scaffold proteins
Basic information
Region (hg38): 16:75228181-75268053
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (188 variants)
- not_provided (21 variants)
- Hereditary_breast_ovarian_cancer_syndrome (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the BCAR1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000014567.5. Only rare variants are included in the table.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 9 | |||||
| missense | 182 | 197 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 1 | |||||
| Total | 0 | 1 | 182 | 12 | 12 |
Loading clinvar variants...
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| BCAR1 | protein_coding | protein_coding | ENST00000418647 | 7 | 39024 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.998 | 0.00192 | 125526 | 0 | 2 | 125528 | 0.00000797 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | -0.594 | 609 | 569 | 1.07 | 0.0000383 | 5733 |
| Missense in Polyphen | 303 | 301.62 | 1.0046 | 2968 | ||
| Synonymous | -2.39 | 320 | 270 | 1.18 | 0.0000202 | 2005 |
| Loss of Function | 4.71 | 3 | 31.5 | 0.0952 | 0.00000178 | 325 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.00 | 0.00 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.0000649 | 0.0000544 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.00000979 | 0.00000882 |
| Middle Eastern | 0.0000649 | 0.0000544 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Docking protein which plays a central coordinating role for tyrosine kinase-based signaling related to cell adhesion. Implicated in induction of cell migration. Overexpression confers antiestrogen resistance on breast cancer cells. {ECO:0000269|PubMed:12832404, ECO:0000269|PubMed:17038317}.;
- Pathway
- Focal adhesion - Homo sapiens (human);Chemokine signaling pathway - Homo sapiens (human);Regulation of actin cytoskeleton - Homo sapiens (human);Rap1 signaling pathway - Homo sapiens (human);Bacterial invasion of epithelial cells - Homo sapiens (human);Leukocyte transendothelial migration - Homo sapiens (human);Celecoxib Pathway, Pharmacodynamics;Integrin-mediated Cell Adhesion;Focal Adhesion;TGF-beta Signaling Pathway;VEGFA-VEGFR2 Signaling Pathway;Chemokine signaling pathway;miR-509-3p alteration of YAP1-ECM axis;EGF-EGFR Signaling Pathway;Regulation of Actin Cytoskeleton;Signaling by PTK6;Signal Transduction;erk and pi-3 kinase are necessary for collagen binding in corneal epithelia;links between pyk2 and map kinases;angiotensin ii mediated activation of jnk pathway via pyk2 dependent signaling;integrin signaling pathway;pten dependent cell cycle arrest and apoptosis;vegf hypoxia and angiogenesis;VEGFA-VEGFR2 Pathway;Signaling by PDGF;p130Cas linkage to MAPK signaling for integrins;Integrin alphaIIb beta3 signaling;BCR;Platelet Aggregation (Plug Formation);cell to cell adhesion signaling;Platelet activation, signaling and aggregation;Integrin;TGF_beta_Receptor;EGFR1;Integrin signaling;CXCR4-mediated signaling events;Hemostasis;PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases;Signaling by Non-Receptor Tyrosine Kinases;Signaling events regulated by Ret tyrosine kinase;Gastrin;Downstream signal transduction;Signaling by VEGF;Signaling by Receptor Tyrosine Kinases;Osteopontin-mediated events;RAC1 signaling pathway;Alpha9 beta1 integrin signaling events;LPA receptor mediated events;CDC42 signaling events;Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met);Netrin-mediated signaling events;Signaling events mediated by focal adhesion kinase;IGF1 pathway;Plasma membrane estrogen receptor signaling;Urokinase-type plasminogen activator (uPA) and uPAR-mediated signaling;Alpha4 beta1 integrin signaling events;PDGFR-beta signaling pathway;Signaling events mediated by PTP1B;EPHA2 forward signaling;Endothelins;Integrins in angiogenesis;Signaling events mediated by PRL
(Consensus)
Intolerance Scores
- loftool
- 0.158
- rvis_EVS
- 1.53
- rvis_percentile_EVS
- 95.51
Haploinsufficiency Scores
- pHI
- 0.473
- hipred
- Y
- hipred_score
- 0.853
- ghis
- 0.431
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- S
- essential_gene_gene_trap
- H
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.832
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Bcar1
- Phenotype
- growth/size/body region phenotype; cellular phenotype; muscle phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); liver/biliary system phenotype; embryo phenotype;
Gene ontology
- Biological process
- regulation of cell growth;actin filament organization;cell adhesion;epidermal growth factor receptor signaling pathway;G protein-coupled receptor signaling pathway;integrin-mediated signaling pathway;cell population proliferation;insulin receptor signaling pathway;positive regulation of endothelial cell migration;cell migration;positive regulation of cell migration;cellular response to hepatocyte growth factor stimulus;regulation of apoptotic process;platelet-derived growth factor receptor signaling pathway;vascular endothelial growth factor receptor signaling pathway;neurotrophin TRK receptor signaling pathway;hepatocyte growth factor receptor signaling pathway;antigen receptor-mediated signaling pathway;T cell receptor signaling pathway;B cell receptor signaling pathway;cell division;cell chemotaxis;actin filament reorganization
- Cellular component
- ruffle;cytoplasm;cytosol;plasma membrane;focal adhesion;actin cytoskeleton;lamellipodium
- Molecular function
- protein binding;SH3 domain binding;protein kinase binding