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POC1B-GALNT4

Synonyms
GALNT4, GalNAc-T4
External resources
Summary
This locus represents naturally occurring transcripts that splice the 5' exons of the POC1B (POC1 centriolar protein homolog B) gene on chromosome 12 to the GALNT4 (UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 4) gene, which is located within a POC1B intron. Alternative splicing results in two transcript variants, one of which encodes a fusion isoform that shares sequence identity with the products of each individual 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
57
Likely pathogenic
0
VUS
570
Likely benign
83
Benign
0

Patient Phenotypes

Proportions of phenotypes among 57 patients carrying pathogenic or likely pathogenic variants on POC1B-GALNT4 gene are displayed below. The following symptoms were found in patients with a variant in POC1B-GALNT4. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
36.8%
Abnormality of the musculoskeletal system
31.6%
Abnormality of head or neck
21.1%
Abnormality of the cardiovascular system
21.1%
Abnormality of the eye
14%
Abnormality of the genitourinary system
14%
Abnormality of the ear
12.3%
Growth abnormality
12.3%
Abnormality of metabolism homeostasis
10.5%
Abnormality of limbs
8.8%
Neoplasm
8.8%
Abnormality of the integument
7%
Abnormality of the immune system
5.3%
Abnormality of the digestive system
3.5%
Abnormality of the endocrine system
3.5%
Abnormality of blood and blood forming tissues
1.8%
Abnormality of prenatal development or birth
1.8%
Abnormal cellular phenotype
0%
Abnormality of the breast
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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