Home > Gene Browser > RUBCNL

RUBCNL

Synonyms
C13orf18, KIAA0226L, PACER
External resources
Summary
This gene encodes a cysteine-rich protein that contains a putative zinc-RING and/or ribbon domain. The encoded protein is related to Run domain Beclin-1-interacting and cysteine-rich domain-containing protein, which plays a role in endocytic trafficking and autophagy. In cervical cancer cell lines, this gene is expressed at low levels and may function as a tumor suppressor. Promoter hypermethylation of this gene is observed in cervical cancer cell lines and tissue derived from human patients.

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
40
Likely pathogenic
0
VUS
1,515
Likely benign
446
Benign
0

Patient Phenotypes

Proportions of phenotypes among 40 patients carrying pathogenic or likely pathogenic variants on RUBCNL gene are displayed below. The following symptoms were found in patients with a variant in RUBCNL. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
60%
Abnormality of the musculoskeletal system
42.5%
Abnormality of head or neck
40%
Abnormality of the cardiovascular system
25%
Abnormality of the digestive system
25%
Growth abnormality
25%
Abnormality of limbs
17.5%
Abnormality of the eye
17.5%
Abnormality of the immune system
17.5%
Abnormality of metabolism homeostasis
15%
Abnormality of the endocrine system
15%
Abnormality of the genitourinary system
15%
Abnormality of the integument
15%
Abnormality of prenatal development or birth
12.5%
Abnormality of blood and blood forming tissues
10%
Abnormality of the respiratory system
10%
Abnormal cellular phenotype
7.5%
Abnormality of the ear
7.5%
Constitutional symptom
2.5%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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