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POLR2J3

Synonyms
POLR2J2, RPB11b1, RPB11b2
External resources
Summary
This gene is a member of the RNA polymerase II subunit 11 gene family, which includes three genes in a cluster on chromosome 7q22.1 and a pseudogene on chromosome 7p13. The founding member of this family, DNA directed RNA polymerase II polypeptide J, has been shown to encode a subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. This locus produces multiple, alternatively spliced transcripts that potentially express isoforms with distinct C-termini compared to DNA directed RNA polymerase II polypeptide J. Most or all variants are spliced to include additional non-coding exons at the 3' end which makes them candidates for nonsense-mediated decay (NMD). Consequently, it is not known if this locus expresses a protein or proteins in vivo.

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
26
Likely pathogenic
40
VUS
9,206
Likely benign
2,096
Benign
0

Patient phenotypes

Proportions of phenotypes among 66 patients carring pathogenic or likely pathogenic variants on POLR2J3 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
43.9%
Abnormality of the eye
39.4%
Abnormality of head or neck
34.8%
Abnormality of the musculoskeletal system
30.3%
Abnormality of the ear
21.2%
Abnormality of the cardiovascular system
18.2%
Abnormality of the integument
16.7%
Abnormality of the digestive system
12.1%
Growth abnormality
12.1%
Abnormality of limbs
10.6%
Abnormality of the genitourinary system
9.1%
Abnormality of the immune system
6.1%
Abnormality of blood and blood-forming tissues
4.5%
Abnormality of the respiratory system
4.5%
Abnormality of prenatal development or birth
3%
Neoplasm
3%
Abnormality of the breast
1.5%
Abnormality of the endocrine system
1.5%
Constitutional symptom
1.5%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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