GAB4

GRB2 associated binding protein family member 4, the group of Pleckstrin homology domain containing

Basic information

Region (hg38): 22:16961936-17008222

Links

ENSG00000215568 ∙ NCBI:128954 ∙ ∙ HGNC:18325 ∙ Uniprot:Q2WGN9 ∙ 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 GAB4 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GAB4 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						0
missense			59	4		63
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	59	4	0

Variants in GAB4

This is a list of pathogenic ClinVar variants found in the GAB4 region.

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

Position	Type	Phenotype	Significance	ClinVar
22-16962752-G-A		not specified	Uncertain significance (Mar 11, 2025)
22-16962809-T-A		not specified	Uncertain significance (Sep 13, 2023)
22-16962849-T-C		not specified	Likely benign (Feb 10, 2022)
22-16962857-G-A		not specified	Uncertain significance (Aug 21, 2024)
22-16963765-C-A		not specified	Uncertain significance (Aug 05, 2024)
22-16963769-T-G		not specified	Uncertain significance (Jul 26, 2022)
22-16963777-G-C		not specified	Uncertain significance (Dec 20, 2022)
22-16963786-G-A		not specified	Uncertain significance (Feb 27, 2025)
22-16963825-G-A		not specified	Uncertain significance (Jul 20, 2021)
22-16963825-G-C		not specified	Uncertain significance (Apr 19, 2024)
22-16964805-G-C		not specified	Uncertain significance (Feb 06, 2024)
22-16964813-T-C		not specified	Uncertain significance (Aug 05, 2024)
22-16964830-G-T		not specified	Uncertain significance (Sep 08, 2024)
22-16965206-G-A		not specified	Uncertain significance (Jan 24, 2025)
22-16966138-A-G		not specified	Likely benign (Dec 04, 2024)
22-16966159-C-A		not specified	Uncertain significance (Mar 15, 2024)
22-16966223-A-C		not specified	Likely benign (Nov 30, 2021)
22-16966236-G-C		not specified	Uncertain significance (Aug 04, 2021)
22-16966246-C-T		not specified	Uncertain significance (Jun 11, 2024)
22-16966247-C-G		not specified	Uncertain significance (Jul 26, 2022)
22-16966277-C-A		not specified	Uncertain significance (May 01, 2022)
22-16966279-G-A		not specified	Likely benign (Oct 26, 2022)
22-16966294-C-G		not specified	Uncertain significance (Sep 20, 2023)
22-16968365-G-C		not specified	Uncertain significance (Mar 20, 2024)
22-16968383-G-A		not specified	Uncertain significance (Feb 14, 2025)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GAB4	protein_coding	protein_coding	ENST00000400588	10	46287

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.34e-10	0.256	49266	19287	57194	125747	0.374

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.964	381	332	1.15	0.0000184	3754
Missense in Polyphen		33	44.612	0.73972		464
Synonymous	-0.539	148	140	1.06	0.00000855	1136
Loss of Function	0.783	17	20.9	0.815	8.89e-7	251

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.708	0.693
Ashkenazi Jewish	0.422	0.409
East Asian	0.396	0.379
Finnish	0.368	0.359
European (Non-Finnish)	0.369	0.357
Middle Eastern	0.396	0.379
South Asian	0.452	0.435
Other	0.384	0.364

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0687

Intolerance Scores

• loftool: 0.771
• rvis_EVS: 1.03
• rvis_percentile_EVS: 91.07

Haploinsufficiency Scores

• pHI: 0.0744
• hipred: N
• hipred_score: 0.112

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0750

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	Medium	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High