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NSD1

Synonyms
ARA267, KMT3B, SOTOS, SOTOS1, STO
External resources
Summary
This gene encodes a protein containing a SET domain, 2 LXXLL motifs, 3 nuclear translocation signals (NLSs), 4 plant homeodomain (PHD) finger regions, and a proline-rich region. The encoded protein enhances androgen receptor (AR) transactivation, and this enhancement can be increased further in the presence of other androgen receptor associated coregulators. This protein may act as a nucleus-localized, basic transcriptional factor and also as a bifunctional transcriptional regulator. Mutations of this gene have been associated with Sotos syndrome and Weaver syndrome. One version of childhood acute myeloid leukemia is the result of a cryptic translocation with the breakpoints occurring within nuclear receptor-binding Su-var, enhancer of zeste, and trithorax domain protein 1 on chromosome 5 and nucleoporin, 98-kd on chromosome 11. Multiple transcript variants encoding distinct isoforms have been identified for this gene.

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
25
Likely pathogenic
1
VUS
7,554
Likely benign
13,795
Benign
2,795

Patient phenotypes

Proportions of phenotypes among 22 patients carrying pathogenic or likely pathogenic variants on NSD1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
81.8%
Abnormality of head or neck
77.3%
Abnormality of the nervous system
72.7%
Growth abnormality
54.5%
Abnormality of limbs
31.8%
Abnormality of the integument
31.8%
Abnormality of the ear
22.7%
Abnormality of the eye
22.7%
Abnormality of the cardiovascular system
18.2%
Abnormality of the digestive system
13.6%
Abnormality of the endocrine system
9.1%
Abnormality of the genitourinary system
9.1%
Abnormality of the immune system
9.1%
Abnormality of the respiratory system
9.1%
Abnormality of prenatal development or birth
4.5%
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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