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DRAP1

Synonyms
NC2-alpha
External resources
Summary
Transcriptional repression is a general mechanism for regulating transcriptional initiation in organisms ranging from yeast to humans. Accurate initiation of transcription from eukaryotic protein-encoding genes requires the assembly of a large multiprotein complex consisting of RNA polymerase II and general transcription factors such as TFIIA, TFIIB, and TFIID. DR1 is a repressor that interacts with the TATA-binding protein (TBP) of TFIID and prevents the formation of an active transcription complex by precluding the entry of TFIIA and/or TFIIB into the preinitiation complex. The protein encoded by this gene is a corepressor of transcription that interacts with DR1 to enhance DR1-mediated repression. The interaction between this corepressor and DR1 is required for corepressor function and appears to stabilize the TBP-DR1-DNA complex.

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
7
Likely pathogenic
249
VUS
902
Likely benign
23
Benign
0

Patient phenotypes

Proportions of phenotypes among 255 patients carring pathogenic or likely pathogenic variants on DRAP1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
34.5%
Abnormality of the musculoskeletal system
25.1%
Abnormality of head or neck
19.2%
Abnormality of the cardiovascular system
15.3%
Abnormality of the eye
15.3%
Abnormality of the ear
14.9%
Growth abnormality
13.3%
Abnormality of the genitourinary system
9%
Abnormality of blood and blood-forming tissues
7.5%
Abnormality of limbs
5.9%
Abnormality of the digestive system
5.9%
Abnormality of the immune system
5.5%
Abnormality of the integument
5.5%
Abnormality of prenatal development or birth
4.7%
Abnormality of the endocrine system
3.9%
Abnormality of the respiratory system
3.1%
Neoplasm
3.1%
Constitutional symptom
1.2%
Abnormality of the breast
0.8%
Abnormality of the voice
0.8%
Abnormal cellular phenotype
0.4%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%

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