BAIAP2L1
Basic information
Region (hg38): 7:98291650-98401090
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (79 variants)
- not_provided (4 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the BAIAP2L1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000018842.5. 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 | 2 | |||||
missense | 78 | 79 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
Total | 0 | 0 | 78 | 3 | 0 |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
BAIAP2L1 | protein_coding | protein_coding | ENST00000005260 | 14 | 109418 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.000104 | 0.999 | 125705 | 0 | 42 | 125747 | 0.000167 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.647 | 270 | 302 | 0.895 | 0.0000178 | 3331 |
Missense in Polyphen | 98 | 127.2 | 0.77044 | 1435 | ||
Synonymous | -0.849 | 137 | 125 | 1.10 | 0.00000889 | 966 |
Loss of Function | 3.04 | 12 | 29.9 | 0.401 | 0.00000172 | 351 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000614 | 0.000608 |
Ashkenazi Jewish | 0.0000992 | 0.0000992 |
East Asian | 0.000163 | 0.000163 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.000196 | 0.000193 |
Middle Eastern | 0.000163 | 0.000163 |
South Asian | 0.000144 | 0.000131 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: May function as adapter protein. Involved in the formation of clusters of actin bundles. Plays a role in the reorganization of the actin cytoskeleton in response to bacterial infection. {ECO:0000269|PubMed:17430976, ECO:0000269|PubMed:19366662, ECO:0000269|PubMed:22921828}.;
- Pathway
- EGFR1
(Consensus)
Recessive Scores
- pRec
- 0.120
Intolerance Scores
- loftool
- 0.650
- rvis_EVS
- -0.55
- rvis_percentile_EVS
- 19.86
Haploinsufficiency Scores
- pHI
- 0.116
- hipred
- Y
- hipred_score
- 0.790
- ghis
- 0.481
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.815
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Baiap2l1
- Phenotype
- homeostasis/metabolism phenotype;
Gene ontology
- Biological process
- plasma membrane organization;response to bacterium;positive regulation of actin filament polymerization;regulation of insulin receptor signaling pathway;actin filament bundle assembly;actin crosslink formation;cell-cell adhesion;positive regulation of actin cytoskeleton reorganization
- Cellular component
- nucleoplasm;cytosol;plasma membrane;cell-cell adherens junction;actin cytoskeleton;extracellular exosome
- Molecular function
- actin binding;protein binding;proline-rich region binding;cadherin binding involved in cell-cell adhesion