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CCHCR1

Synonyms
C6orf18, HCR, SBP, pg8
External resources
Summary
This gene encodes a protein with five coiled-coil alpha-helical rod domains that is thought to act as a regulator of mRNA metabolism through its interaction with mRNA-decapping protein 4. It localizes to P-bodies, the site of mRNA metabolism, with an N-terminus that is required for this subcellular localization, suggesting it is a P-body component. Naturally occurring mutations in this gene are associated with psoriasis.

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
17
Likely pathogenic
0
VUS
7,498
Likely benign
348
Benign
0

Patient Phenotypes

Proportions of phenotypes among 17 patients carrying pathogenic or likely pathogenic variants on CCHCR1 gene are displayed below. The following symptoms were found in patients with a variant in CCHCR1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
29.4%
Abnormality of the nervous system
29.4%
Abnormality of the digestive system
23.5%
Abnormality of head or neck
17.6%
Abnormality of the genitourinary system
17.6%
Abnormality of the immune system
17.6%
Abnormality of the musculoskeletal system
17.6%
Abnormality of metabolism homeostasis
11.8%
Abnormality of the endocrine system
11.8%
Abnormality of the integument
11.8%
Abnormal cellular phenotype
5.9%
Abnormality of blood and blood forming tissues
5.9%
Abnormality of limbs
5.9%
Abnormality of the cardiovascular system
5.9%
Abnormality of the ear
5.9%
Growth abnormality
5.9%
Neoplasm
5.9%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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