Home > Gene Browser > ACAN

ACAN

Synonyms
AGC1, AGCAN, CSPG1, CSPGCP, MSK16, SEDK, SSOAOD
External resources
Summary
This gene is a member of the aggrecan/versican proteoglycan family. The encoded protein is an integral part of the extracellular matrix in cartilagenous tissue and it withstands compression in cartilage. Mutations in this gene may be involved in skeletal dysplasia and spinal degeneration. Multiple alternatively spliced transcript variants that encode different protein isoforms have been observed in 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
25
Likely pathogenic
5
VUS
4,364
Likely benign
5,919
Benign
1,149

Patient phenotypes

Proportions of phenotypes among 21 patients carring pathogenic or likely pathogenic variants on ACAN gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
47.6%
Growth abnormality
38.1%
Abnormality of the musculoskeletal system
33.3%
Abnormality of the eye
28.6%
Abnormality of head or neck
23.8%
Abnormality of the endocrine system
23.8%
Abnormality of the ear
14.3%
Abnormality of the genitourinary system
14.3%
Abnormality of the integument
14.3%
Abnormality of limbs
9.5%
Abnormality of the digestive system
9.5%
Abnormality of the cardiovascular system
4.8%
Abnormality of the immune system
4.8%
Abnormality of the respiratory system
4.8%
Constitutional symptom
4.8%
Neoplasm
4.8%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

Have a question or need assistance? Ask here.

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