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PUF60

Synonyms
FIR, RoBPI, SIAHBP1, VRJS
External resources
Summary
This gene encodes a nucleic acid-binding protein that plays a role in a variety of nuclear processes, including pre-mRNA splicing and transcriptional regulation. The encoded protein forms a complex with the far upstream DNA element (FUSE) and FUSE-binding protein at the myelocytomatosis oncogene (MYC) promoter. This complex represses MYC transcription through the core-TFIIH basal transcription factor. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.

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
5
Likely pathogenic
0
VUS
9,061
Likely benign
8,208
Benign
36

Patient phenotypes

Proportions of phenotypes among 5 patients carrying pathogenic or likely pathogenic variants on PUF60 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of head or neck
60%
Growth abnormality
60%
Abnormality of the integument
40%
Abnormality of the musculoskeletal system
40%
Abnormality of the nervous system
40%
Abnormality of limbs
20%
Abnormality of the genitourinary system
20%
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 ear
0%
Abnormality of the endocrine system
0%
Abnormality of the eye
0%
Abnormality of the immune system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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