NSD1 Chromosome 5
Nuclear receptor binding SET domain protein 1
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What This Gene Does
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. [provided by RefSeq, Sep 2018]
Gene Info
Gene Group
"PHD finger proteins|Histone lysine methyltransferases|PWWP domain containing|SET domain containing"
Locus Type
gene with protein product
Location
5q35.3
Ensembl
ENSG00000165671
Associated Conditions (21)
Inborn genetic diseases
Sotos syndrome
Acute myeloid leukemia
NSD1-related disorder
See cases
Holoprosencephaly 2
Thyroid cancer
nonmedullary
1
Beckwith-Wiedemann syndrome
Intellectual disability
Hereditary cancer
Neurodevelopmental disorder
Squamous cell lung carcinoma
Neurodevelopmental delay
Non-immune hydrops fetalis
Squamous cell carcinoma of the head and neck
Neoplasm
Marfanoid habitus and intellectual disability
9 conditions
+1 more conditions
Key Variants
RS111638717
Conflicting classifications of pathogenicity
Inborn genetic diseases, Sotos syndrome, Inborn genetic diseases
Health Risk
RS113856002
Conflicting classifications of pathogenicity
Inborn genetic diseases, Sotos syndrome, Inborn genetic diseases
Health Risk
RS1159759744
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1189702665
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1210587929
Conflicting classifications of pathogenicity
Sotos syndrome, Sotos syndrome
Health Risk
RS1215568879
Conflicting classifications of pathogenicity
Sotos syndrome, Sotos syndrome
Health Risk
RS1233891472
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1237230298
Conflicting classifications of pathogenicity
Health Risk
RS1251583221
Conflicting classifications of pathogenicity
Sotos syndrome, Sotos syndrome
Health Risk
RS1264350592
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1299908416
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1341121356
Conflicting classifications of pathogenicity
Health Risk
All Variants (709)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2480456381 | Health Risk | Pathogenic | Sotos syndrome, Sotos syndrome |
| RS2480461245 | Health Risk | Pathogenic | — |
| RS2480464795 | Health Risk | Pathogenic | — |
| RS2480466649 | Health Risk | Pathogenic | — |
| RS2480469743 | Health Risk | Pathogenic | Sotos syndrome, Sotos syndrome |
| RS2480580458 | Health Risk | Pathogenic | — |
| RS2480581026 | Health Risk | Pathogenic | — |
| RS2480581122 | Health Risk | Pathogenic | Sotos syndrome, Sotos syndrome |
| RS2480591221 | Health Risk | Pathogenic | Sotos syndrome, Sotos syndrome |
| RS2480597096 | Health Risk | Pathogenic | Sotos syndrome, Sotos syndrome |
| RS2480597386 | Health Risk | Pathogenic | Sotos syndrome, Sotos syndrome |
| RS2480614303 | Health Risk | Pathogenic | — |
| RS2480614730 | Health Risk | Pathogenic | Sotos syndrome, Sotos syndrome |
| RS2480641733 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2480664913 | Health Risk | Pathogenic | Sotos syndrome, Sotos syndrome |
| RS2480679636 | Health Risk | Pathogenic | — |
| RS2480679840 | Health Risk | Pathogenic | — |
| RS2480720249 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2480729692 | Health Risk | Pathogenic | See cases, See cases |
| RS2480730115 | Health Risk | Pathogenic | Sotos syndrome, Sotos syndrome |
| RS2480730450 | Health Risk | Pathogenic | Sotos syndrome, Sotos syndrome |
| RS2480749822 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2480793393 | Health Risk | Pathogenic | Sotos syndrome, Sotos syndrome |
| RS2480828401 | Health Risk | Pathogenic | — |
| RS2480829068 | Health Risk | Pathogenic | Sotos syndrome, Sotos syndrome |
| RS2480829436 | Health Risk | Pathogenic | — |
| RS2480830681 | Health Risk | Pathogenic | — |
| RS2480842251 | Health Risk | Pathogenic | — |
| RS367809750 | Health Risk | Pathogenic | — |
| RS369086894 | Health Risk | Pathogenic | — |
| RS398124374 | Health Risk | Pathogenic | — |
| RS398124379 | Health Risk | Pathogenic | Sotos syndrome, Sotos syndrome |
| RS398124381 | Health Risk | Pathogenic | Squamous cell carcinoma of the head and neck, Squamous cell carcinoma of the head and neck |
| RS398124383 | Health Risk | Pathogenic | — |
| RS545207228 | Health Risk | Pathogenic | NSD1-related disorder, NSD1-related disorder |
| RS570278338 | Health Risk | Pathogenic | Sotos syndrome, Sotos syndrome |
| RS587784068 | Health Risk | Pathogenic | Sotos syndrome, Sotos syndrome |
| RS587784071 | Health Risk | Pathogenic | Sotos syndrome, Sotos syndrome |
| RS587784073 | Health Risk | Pathogenic | Sotos syndrome, Sotos syndrome |
| RS587784076 | Health Risk | Pathogenic | Sotos syndrome, Neoplasm, Sotos syndrome |
| RS587784077 | Health Risk | Pathogenic | Sotos syndrome, Sotos syndrome |
| RS587784078 | Health Risk | Pathogenic | Sotos syndrome, Sotos syndrome |
| RS587784079 | Health Risk | Pathogenic | Sotos syndrome, Sotos syndrome |
| RS587784080 | Health Risk | Pathogenic | Sotos syndrome, Sotos syndrome |
| RS587784081 | Health Risk | Pathogenic | Sotos syndrome, Sotos syndrome |
| RS587784082 | Health Risk | Pathogenic | Sotos syndrome, Sotos syndrome |
| RS587784084 | Health Risk | Pathogenic | Sotos syndrome, Sotos syndrome |
| RS587784085 | Health Risk | Pathogenic | Sotos syndrome, Sotos syndrome |
| RS587784086 | Health Risk | Pathogenic | Sotos syndrome, Sotos syndrome |
| RS587784087 | Health Risk | Pathogenic | Sotos syndrome, Sotos syndrome |