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.

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.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense			49			49
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding				1	2	3
Total	0	0	49	2	2

Variants in BAIAP2L1

This is a list of pathogenic ClinVar variants found in the BAIAP2L1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
7-98293528-A-G		not specified	Uncertain significance (Mar 03, 2025)
7-98293549-T-C		not specified	Uncertain significance (Apr 29, 2024)
7-98293552-G-A		not specified	Uncertain significance (Nov 09, 2024)
7-98293596-G-A		not specified	Likely benign (Jan 01, 2025)
7-98294086-G-A		not specified	Uncertain significance (Dec 03, 2024)
7-98294092-G-A			Uncertain significance (Jun 30, 2022)
7-98304210-C-T		not specified	Uncertain significance (Sep 10, 2024)
7-98304245-G-A		not specified	Uncertain significance (Nov 18, 2022)
7-98304254-G-A		not specified	Uncertain significance (Jan 24, 2024)
7-98304268-G-T		not specified	Uncertain significance (Oct 03, 2022)
7-98304270-C-T		not specified	Uncertain significance (Dec 21, 2023)
7-98304271-G-A			Likely benign (Sep 01, 2022)
7-98304311-G-T		not specified	Uncertain significance (Aug 13, 2021)
7-98304324-C-T		not specified	Uncertain significance (Mar 19, 2024)
7-98304336-C-T		not specified	Uncertain significance (May 08, 2023)
7-98304348-C-T		not specified	Uncertain significance (Nov 23, 2022)
7-98306454-G-T		not specified	Uncertain significance (Dec 06, 2021)
7-98306490-G-A		not specified	Uncertain significance (Nov 10, 2022)
7-98307695-G-C		not specified	Uncertain significance (May 03, 2023)
7-98307699-C-T		not specified	Uncertain significance (Jan 27, 2025)
7-98307700-G-T		not specified	Uncertain significance (Oct 03, 2022)
7-98307702-C-T		not specified	Uncertain significance (Oct 25, 2023)
7-98307727-C-A		not specified	Uncertain significance (Nov 15, 2024)
7-98307784-C-A		not specified	Uncertain significance (Feb 15, 2023)
7-98307804-G-A		not specified	Uncertain significance (Oct 04, 2024)

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