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DCAF7

Synonyms
AN11, HAN11, SWAN-1, WDR68
External resources
Summary
This gene encodes a protein with multiple WD40 repeats which facilitate protein-protein interactions and thereby enable the assembly of multiprotein complexes. This protein has been shown to function as a scaffold protein for protein complexes involved in kinase signaling. This highly conserved gene is present in eukaryotic plants, fungi, and animals. The ortholog of this gene was first identified in plants as a key regulator of anthocyanin biosynthesis and flower pigmentation. Alternative splicing results in multiple transcript variants.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
1
Likely pathogenic
3
VUS
1,301
Likely benign
190
Benign
0

Patient phenotypes

Proportions of phenotypes among 4 patients carrying pathogenic or likely pathogenic variants on DCAF7 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the cardiovascular system
50%
Abnormality of blood and blood-forming tissues
25%
Abnormality of head or neck
25%
Abnormality of the eye
25%
Abnormality of the genitourinary system
25%
Abnormality of the integument
25%
Abnormality of the nervous system
25%
Abnormal cellular phenotype
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the ear
0%
Abnormality of the endocrine system
0%
Abnormality of the immune system
0%
Abnormality of the musculoskeletal system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Growth abnormality
0%
Neoplasm
0%

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