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PAF1

Synonyms
F23149_1, PD2
External resources
Summary
This gene encodes a subunit of the polymerase associated factor (PAF1) complex. The PAF1 complex interacts with RNA polymerase II and plays a role in transcription elongation as well as histone modifications including ubiquitylation and methylation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.

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
5
Likely pathogenic
0
VUS
2,475
Likely benign
24
Benign
0

Patient Phenotypes

Proportions of phenotypes among 5 patients carrying pathogenic or likely pathogenic variants on PAF1 gene are displayed below. The following symptoms were found in patients with a variant in PAF1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of head or neck
80%
Abnormality of the musculoskeletal system
80%
Abnormality of the nervous system
80%
Abnormality of limbs
60%
Abnormality of the eye
60%
Growth abnormality
60%
Abnormality of the cardiovascular system
40%
Abnormality of the ear
40%
Abnormality of the digestive system
20%
Abnormality of the genitourinary system
20%
Abnormality of the respiratory system
20%
Constitutional symptom
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 endocrine system
0%
Abnormality of the immune system
0%
Abnormality of the integument
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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