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NACC1

Synonyms
BEND8, BTBD14B, BTBD30, NAC-1, NAC1, NECFM
External resources
Summary
This gene encodes a member of the BTB/POZ protein family. BTB/POZ proteins are involved in several cellular processes including proliferation, apoptosis and transcription regulation. The encoded protein is a transcriptional repressor that plays a role in stem cell self-renewal and pluripotency maintenance. The encoded protein also suppresses transcription of the candidate tumor suppressor Gadd45GIP1, and expression of this gene may play a role in the progression of multiple types of cancer. A pseudogene of this gene is located on the short arm of chromosome 9.

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
45
Likely pathogenic
0
VUS
296
Likely benign
1,338
Benign
577

Patient phenotypes

Proportions of phenotypes among 36 patients carring pathogenic or likely pathogenic variants on NACC1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
41.7%
Abnormality of the cardiovascular system
36.1%
Abnormality of the eye
22.2%
Growth abnormality
19.4%
Abnormality of the musculoskeletal system
16.7%
Abnormality of blood and blood-forming tissues
13.9%
Abnormality of head or neck
13.9%
Abnormality of the ear
11.1%
Abnormality of the genitourinary system
11.1%
Abnormality of the digestive system
5.6%
Abnormality of the integument
5.6%
Abnormality of the respiratory system
5.6%
Abnormal cellular phenotype
2.8%
Abnormality of the endocrine system
2.8%
Abnormality of the immune system
2.8%
Neoplasm
2.8%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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