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TRERF1

Synonyms
BCAR2, HSA277276, RAPA, TREP132, TReP-132, dJ139D8.5
External resources
Summary
This gene encodes a zinc-finger transcriptional regulating protein which interacts with CBP/p300 to regulate the human gene CYP11A1. Alternative splicing results in multiple transcript variants encoding different isoforms.

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
9
Likely pathogenic
0
VUS
3,964
Likely benign
2,431
Benign
0

Patient phenotypes

Proportions of phenotypes among 7 patients carrying pathogenic or likely pathogenic variants on TRERF1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
42.9%
Abnormality of the nervous system
42.9%
Abnormality of the musculoskeletal system
28.6%
Abnormality of head or neck
14.3%
Abnormality of limbs
14.3%
Abnormality of the ear
14.3%
Abnormality of the endocrine system
14.3%
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 cardiovascular system
0%
Abnormality of the digestive system
0%
Abnormality of the genitourinary system
0%
Abnormality of the immune 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%
Growth abnormality
0%
Neoplasm
0%

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