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PRPF40B

Synonyms
HYPC
External resources
Summary
This gene encodes a WW-domain containing protein similar to yeast splicing factor PRP40. This protein has been shown to interact with Huntingtin and methyl CpG binding protein 2 (MeCP2). Alternative splicing results in different transcript variants.

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
30
Likely pathogenic
28
VUS
15,145
Likely benign
6,063
Benign
0

Patient phenotypes

Proportions of phenotypes among 57 patients carrying pathogenic or likely pathogenic variants on PRPF40B gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of blood and blood-forming tissues
15.8%
Abnormality of the eye
14%
Abnormality of the nervous system
10.5%
Abnormality of head or neck
8.8%
Abnormality of the cardiovascular system
8.8%
Abnormality of the musculoskeletal system
8.8%
Abnormality of the genitourinary system
7%
Growth abnormality
5.3%
Abnormality of limbs
3.5%
Abnormality of the ear
3.5%
Abnormality of the integument
3.5%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
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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