Home > Gene Browser > POU5F1B

POU5F1B

Synonyms
OCT4-PG1, OCT4PG1, OTF3C, OTF3P1, POU5F1P1, POU5F1P4, POU5FLC20, POU5FLC8
External resources
Summary
This intronless gene was thought to be a transcribed pseudogene of POU class 5 homeobox 1, however, it has been reported that this gene can encode a functional protein. The encoded protein is nearly the same length as and highly similar to the POU class 5 homeobox 1 transcription factor, has been shown to be a weak transcriptional activator and may play a role in carcinogenesis and eye development.

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
47
Likely pathogenic
1
VUS
418
Likely benign
24
Benign
0

Patient phenotypes

Proportions of phenotypes among 48 patients carring pathogenic or likely pathogenic variants on POU5F1B gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
33.3%
Abnormality of the musculoskeletal system
25%
Abnormality of head or neck
18.8%
Abnormality of the cardiovascular system
18.8%
Abnormality of the eye
18.8%
Abnormality of the ear
14.6%
Abnormality of the genitourinary system
8.3%
Abnormality of the integument
8.3%
Growth abnormality
8.3%
Abnormality of the immune system
6.3%
Abnormality of limbs
4.2%
Abnormality of prenatal development or birth
4.2%
Abnormality of the digestive system
4.2%
Abnormality of the respiratory system
4.2%
Abnormality of the endocrine system
2.1%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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