Home > Gene Browser > NBPF12

NBPF12

Synonyms
COAS1, KIAA1245
External resources
Summary
This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, cognitive disability, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes.

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
59
Likely pathogenic
2,775
VUS
14,090
Likely benign
4,326
Benign
0

Patient Phenotypes

Proportions of phenotypes among 2687 patients carrying pathogenic or likely pathogenic variants on NBPF12 gene are displayed below. The following symptoms were found in patients with a variant in NBPF12. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
42.4%
Abnormality of the musculoskeletal system
26.1%
Abnormality of the eye
24.4%
Abnormality of head or neck
20.9%
Abnormality of the cardiovascular system
13.8%
Growth abnormality
13.2%
Abnormality of the ear
11.5%
Abnormality of the integument
8.7%
Abnormality of limbs
7.9%
Abnormality of the genitourinary system
7.5%
Abnormality of metabolism homeostasis
6.3%
Abnormality of blood and blood forming tissues
6.1%
Abnormality of the digestive system
5.1%
Abnormality of the immune system
5%
Abnormality of the respiratory system
3.3%
Abnormality of the endocrine system
2.8%
Abnormality of prenatal development or birth
2.1%
Neoplasm
2%
Constitutional symptom
0.9%
Abnormal cellular phenotype
0.5%
Abnormality of the breast
0.4%
Abnormality of the voice
0.2%
Abnormality of the thoracic cavity
0.1%

Have a question or need assistance? Ask here.

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