Home > Gene Browser > AP1G1

AP1G1

Synonyms
ADTG, CLAPG1
External resources
Summary
Adaptins are important components of clathrin-coated vesicles transporting ligand-receptor complexes from the plasma membrane or from the trans-Golgi network to lysosomes. The adaptin family of proteins is composed of four classes of molecules named alpha, beta-, beta prime- and gamma- adaptins. Adaptins, together with medium and small subunits, form a heterotetrameric complex called an adaptor, whose role is to promote the formation of clathrin-coated pits and vesicles. The protein encoded by this gene is a gamma-adaptin protein and it belongs to the adaptor complexes large subunits family. Two transcript variants encoding different isoforms have been found for this gene.

Variant Counts

Variant classification counts, according to ACMG guideline on all identified variants among our tested samples, are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc.) are excluded.

Pathogenic
23
Likely pathogenic
0
VUS
6,364
Likely benign
2,370
Benign
373

Patient Phenotypes

Proportions of phenotypes among 23 patients carrying pathogenic or likely pathogenic variants on AP1G1 gene are displayed below. The following symptoms were found in patients with a variant in AP1G1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
39.1%
Abnormality of the cardiovascular system
34.8%
Abnormality of head or neck
21.7%
Abnormality of the musculoskeletal system
21.7%
Abnormality of limbs
13%
Abnormality of metabolism homeostasis
8.7%
Abnormality of the ear
8.7%
Abnormality of the endocrine system
8.7%
Abnormality of the eye
8.7%
Abnormality of the immune system
8.7%
Growth abnormality
8.7%
Abnormality of blood and blood forming tissues
4.3%
Abnormality of the breast
4.3%
Abnormality of the digestive system
4.3%
Abnormal cellular phenotype
0%
Abnormality of prenatal development or birth
0%
Abnormality of the genitourinary system
0%
Abnormality of the integument
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes.