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

ENSG00000006453 ∙ NCBI:55971 ∙ OMIM:611877 ∙ HGNC:21649 ∙ Uniprot:Q9UHR4 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				2		2
missense			78	1		79
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	78	3	0

GnomAD

Source: gnomAD

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: 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

	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