BAIAP2L1

BAR/IMD domain containing adaptor protein 2 like 1, the group of I-BAR domain containing

Basic information

Region (hg38): 7:98291650-98401090

Links

ENSG00000006453NCBI:55971OMIM:611877HGNC:21649Uniprot:Q9UHR4AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the BAIAP2L1 gene.

  • 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.

EffectPLPVUSLBBSum
synonymous
2
clinvar
2
missense
78
clinvar
1
clinvar
79
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 78 3 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
BAIAP2L1protein_codingprotein_codingENST00000005260 14109418
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.0001040.9991257050421257470.000167
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.6472703020.8950.00001783331
Missense in Polyphen98127.20.770441435
Synonymous-0.8491371251.100.00000889966
Loss of Function3.041229.90.4010.00000172351

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0006140.000608
Ashkenazi Jewish0.00009920.0000992
East Asian0.0001630.000163
Finnish0.000.00
European (Non-Finnish)0.0001960.000193
Middle Eastern0.0001630.000163
South Asian0.0001440.000131
Other0.000.00

dbNSFP

Source: dbNSFP

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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

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