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UTF1

Synonyms
-
External resources
Summary
The protein encoded by this gene is a leucine zipper-containing transcriptional coactivator that may link the upstream activator ATF2 with the basal transcription complex. The encoded protein is closely associated with chromatin and is required for the proper differentiation of embryonic carcinoma and embryonic stem cells. Found nearly exclusively in pluripotent cells, this protein can also serve as a transcriptional repressor.

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
103
Likely pathogenic
0
VUS
11,373
Likely benign
274
Benign
0

Patient Phenotypes

Proportions of phenotypes among 100 patients carrying pathogenic or likely pathogenic variants on UTF1 gene are displayed below. The following symptoms were found in patients with a variant in UTF1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
43%
Abnormality of the nervous system
33%
Abnormality of the musculoskeletal system
25%
Abnormality of the cardiovascular system
19%
Abnormality of head or neck
18%
Abnormality of the ear
15%
Growth abnormality
13%
Abnormality of limbs
10%
Abnormality of the integument
7%
Abnormality of the genitourinary system
6%
Abnormality of blood and blood forming tissues
5%
Abnormality of metabolism homeostasis
5%
Abnormality of the immune system
4%
Abnormality of prenatal development or birth
3%
Abnormality of the digestive system
3%
Abnormality of the endocrine system
2%
Abnormality of the respiratory system
2%
Constitutional symptom
2%
Abnormal cellular phenotype
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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