Home > Gene Browser > PAPOLG

PAPOLG

Synonyms
-
External resources
Summary
This gene encodes a member of the poly(A) polymerase family which catalyzes template-independent extension of the 3' end of a DNA/RNA strand. This enzyme shares 60% identity to the well characterized poly(A) polymerase II (PAPII) at the amino acid level. These two enzymes have similar organization of structural and functional domains. This enzyme is exclusively localized in the nucleus and exhibits both nonspecific and CPSF (cleavage and polyadenylation specificity factor)/AAUAAA-dependent polyadenylation activity. This gene is located on chromosome 2 in contrast to the PAPII gene, which is located on chromosome 14.

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
38
VUS
7,020
Likely benign
309
Benign
0

Patient Phenotypes

Proportions of phenotypes among 43 patients carrying pathogenic or likely pathogenic variants on PAPOLG gene are displayed below. The following symptoms were found in patients with a variant in PAPOLG. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
44.2%
Abnormality of the musculoskeletal system
37.2%
Abnormality of the cardiovascular system
25.6%
Abnormality of head or neck
18.6%
Abnormality of the eye
18.6%
Abnormality of limbs
16.3%
Abnormality of metabolism homeostasis
11.6%
Abnormality of the ear
11.6%
Abnormality of the genitourinary system
11.6%
Abnormality of the immune system
11.6%
Growth abnormality
9.3%
Abnormality of blood and blood forming tissues
7%
Abnormality of the digestive system
7%
Abnormality of the endocrine system
4.7%
Abnormal cellular phenotype
2.3%
Abnormality of prenatal development or birth
2.3%
Abnormality of the breast
2.3%
Abnormality of the integument
2.3%
Constitutional symptom
2.3%
Neoplasm
2.3%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes.