NSD1
nuclear receptor binding SET domain protein 1
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. [provided by RefSeq, Sep 2018]
Known Variants1,344 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs141531374 | 5:176,558,056 | G/A | upstream gene variant | — |
| rs3733873 | 5:176,561,113 | T/C | — | benign |
| rs116419640 | 5:176,561,748 | C/T | — | likely benign |
| rs73806730 | 5:176,561,982 | A/G | — | likely benign |
| rs199639292 | 5:176,562,097 | G/A | — | conflicting classifications of pathogenicity |
| rs368345846 | 5:176,562,123 | C/A | — | conflicting classifications of pathogenicity |
| rs760160996 | 5:176,562,126 | C/T | — | likely benign |
| rs1756203781 | 5:176,562,130 | G/T | — | conflicting classifications of pathogenicity |
| rs1581089074 | 5:176,562,133 | G/A | — | uncertain significance |
| rs143406017 | 5:176,562,138 | T/C | — | conflicting classifications of pathogenicity |
| rs1348059308 | 5:176,562,141 | C/A | — | uncertain significance |
| rs1581089158 | 5:176,562,143 | G/C | — | likely benign |
| rs1756205761 | 5:176,562,146 | G/C | — | likely benign |
| rs1756207246 | 5:176,562,160 | C/T | — | uncertain significance |
| rs377302741 | 5:176,562,162 | G/T | — | uncertain significance |
| rs147146776 | 5:176,562,176 | C/T | — | conflicting classifications of pathogenicity |
| rs752376308 | 5:176,562,181 | A/G | — | likely benign |
| rs905320202 | 5:176,562,195 | C/G | — | likely benign |
| rs923849995 | 5:176,562,201 | G/A | — | uncertain significance |
| rs2149755343 | 5:176,562,209 | T/G | — | uncertain significance |
| rs549091873 | 5:176,562,212 | A/G | — | uncertain significance |
| rs368524494 | 5:176,562,217 | A/G | — | likely benign |
| rs1562097679 | 5:176,562,244 | C/G | — | uncertain significance |
| rs2480086228 | 5:176,562,245 | T/C | — | likely benign |
| rs200735877 | 5:176,562,246 | A/G | — | conflicting classifications of pathogenicity |
| rs1336273625 | 5:176,562,249 | C/T | — | uncertain significance |
| rs778646937 | 5:176,562,255 | T/C | — | likely benign |
| rs727504052 | 5:176,562,257 | G/A | — | uncertain significance |
| rs2480086482 | 5:176,562,277 | A/G | — | uncertain significance |
| rs1057523994 | 5:176,562,302 | A/G | — | likely benign |
| rs2480086675 | 5:176,562,303 | T/A | — | uncertain significance |
| rs1562097849 | 5:176,562,311 | C/A | — | pathogenic |
| rs760029045 | 5:176,562,313 | T/G | — | conflicting classifications of pathogenicity |
| rs201780407 | 5:176,562,326 | A/G | — | likely benign |
| rs763781326 | 5:176,562,345 | A/G | — | conflicting classifications of pathogenicity |
| rs1342105953 | 5:176,562,346 | T/C | — | uncertain significance |
| rs886042530 | 5:176,562,347 | G/C | — | uncertain significance |
| rs2480087059 | 5:176,562,356 | A/G | — | likely benign |
| rs1216848793 | 5:176,562,378 | G/A | — | uncertain significance |
| rs200193622 | 5:176,562,394 | T/A | — | likely benign |
| rs779850742 | 5:176,562,397 | A/T | — | likely benign |
| rs2480087492 | 5:176,562,423 | G/A | — | uncertain significance |
| rs1201715787 | 5:176,562,435 | A/G | — | likely benign |
| rs1756231832 | 5:176,562,438 | G/T | — | uncertain significance |
| rs77093936 | 5:176,562,443 | C/T | — | likely benign |
| rs749444972 | 5:176,562,444 | A/G | — | conflicting classifications of pathogenicity |
| rs1581090282 | 5:176,562,450 | T/G | — | uncertain significance |
| rs587784102 | 5:176,562,456 | C/G | — | likely benign |
| rs2149755881 | 5:176,562,457 | C/T | — | uncertain significance |
| rs886060438 | 5:176,562,480 | A/G | — | uncertain significance |
| rs1212116881 | 5:176,562,485 | A/T | — | likely benign |
| rs764617265 | 5:176,562,487 | A/G | — | uncertain significance |
| rs28932174 | 5:176,562,499 | G/A | — | uncertain significance |
| rs1008986007 | 5:176,562,502 | A/G | — | uncertain significance |
| rs2480088207 | 5:176,562,509 | C/T | — | likely benign |
| rs976337259 | 5:176,562,521 | G/A | — | likely benign |
| rs745885259 | 5:176,562,540 | A/G | — | likely benign |
| rs1240259079 | 5:176,562,542 | C/G | — | uncertain significance |
| rs958020177 | 5:176,562,555 | C/T | — | likely benign |
| rs765845162 | 5:176,562,558 | C/T | — | likely benign |
| rs79427433 | 5:176,562,584 | C/T | — | likely benign |
| rs2480089023 | 5:176,562,586 | A/T | — | uncertain significance |
| rs532345998 | 5:176,562,591 | G/A | — | likely benign |
| rs2149756174 | 5:176,562,594 | G/A | — | uncertain significance |
| rs201012228 | 5:176,562,611 | C/T | — | likely benign |
| rs1554167548 | 5:176,562,628 | C/T | — | uncertain significance |
| rs1756251509 | 5:176,562,633 | G/A | — | uncertain significance |
| rs538618950 | 5:176,562,634 | A/G | — | likely benign |
| rs758535770 | 5:176,562,653 | C/T | — | likely benign |
| rs1756255240 | 5:176,562,661 | A/T | — | uncertain significance |
| rs747482816 | 5:176,562,664 | C/G | — | likely benign |
| rs769162062 | 5:176,562,671 | C/T | — | likely benign |
| rs1186156413 | 5:176,562,673 | A/T | — | uncertain significance |
| rs1417236940 | 5:176,562,687 | T/G | — | conflicting classifications of pathogenicity |
| rs2480090099 | 5:176,562,689 | T/C | — | likely benign |
| rs1581091469 | 5:176,562,726 | G/A | — | conflicting classifications of pathogenicity |
| rs2149756502 | 5:176,562,730 | G/A | — | uncertain significance |
| rs755931458 | 5:176,562,743 | C/T | — | likely benign |
| rs1208967470 | 5:176,562,745 | C/T | — | uncertain significance |
| rs765612703 | 5:176,562,746 | A/C | — | likely benign |
| rs1240149522 | 5:176,562,757 | G/T | — | uncertain significance |
| rs755449099 | 5:176,562,762 | G/T | — | uncertain significance |
| rs2149756648 | 5:176,562,765 | G/T | — | uncertain significance |
| rs1057524420 | 5:176,562,766 | C/T | — | uncertain significance |
| rs770174512 | 5:176,562,774 | T/C | — | uncertain significance |
| rs1320622588 | 5:176,562,776 | G/A | — | likely benign |
| rs770522999 | 5:176,562,786 | C/G | — | conflicting classifications of pathogenicity |
| rs1057522319 | 5:176,562,788 | A/G | — | likely benign |
| rs28932175 | 5:176,562,812 | G/C | — | likely benign |
| rs1756273326 | 5:176,562,813 | A/G | — | uncertain significance |
| rs1756274169 | 5:176,562,821 | G/A | — | likely benign |
| rs1156510513 | 5:176,562,840 | G/T | — | likely benign |
| rs778128824 | 5:176,562,861 | C/G | — | likely benign |
| rs149334244 | 5:176,562,864 | C/T | — | likely benign |
| rs558302421 | 5:176,562,871 | C/T | — | likely benign |
| rs1756280868 | 5:176,562,873 | C/T | — | uncertain significance |
| rs370328602 | 5:176,562,890 | C/T | — | likely benign |
| rs771587260 | 5:176,562,897 | A/G | — | conflicting classifications of pathogenicity |
| rs766770297 | 5:176,562,908 | A/G | — | likely benign |
| rs751787444 | 5:176,562,909 | G/A | — | uncertain significance |
Showing 100 of 1,344 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.