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          • Home
          • › Search Tool
          • › Search Results
          • › Hs07226277_cn
          See other NSD1 CNV Assays ›
          Gene Symbol
          NSD1
          Assay Reference Genome
          Location

          Chr.5:177241792 on build GRCh38
          Cytoband
          Assay ID Hs07226277_cn
          Size
          Availability Made To Order
          Catalog # 4400291
          Price
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          • Genomic Map
          • Assay Details
          • More Information

          Genomic Map

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          Assay Details

          Target Gene Details

          Entrez Gene ID:

          64324

          Gene Name:

          nuclear receptor binding SET domain protein 1

          Gene Aliases:

          ARA267, KMT3B, SOTOS, SOTOS1, STO

          Location:

          Chr.5:177131798-177300213 on Build GRCh38

          Assay Gene Location:

          Within Intron 13
          Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
          NSD1 NM_001365684.2 NP_001352613.2
          NM_001409301.1 NP_001396230.1
          NM_001409302.1 NP_001396231.1
          NM_001409303.1 NP_001396232.1
          NM_001409304.1 NP_001396233.1
          NM_001409305.1 NP_001396234.1
          NM_001409306.1 NP_001396235.1
          NM_001409307.1 NP_001396236.1
          NM_001409308.1 NP_001396237.1
          NM_001409309.1 NP_001396238.1
          NM_022455.5 NP_071900.2
          NM_172349.5 NP_758859.2
          AF322907.1 AAK92049.1
          AF380302.1 AAL27991.1
          AF395588.1 AAL40694.1
          AK055187.1 BAB70868.1
          AK091358.1 BAC03645.1
          AY049721.1 AAL06645.1
          BC139789.1 AAI39790.1
          BC150628.1 AAI50629.1
          MZ079032.1 UWM72407.1

          Target Copy Number Variation Details

          DGV Version:

          Release date: 2025-12-01, GRCh GRCh38
          Target
          Variation
          Location CNV
          Subtype
          Genes
          esv2759396 Chr.5:177191316 - 177375443 on Build GRCh38 Gain RAB24 RGS14 NSD1 LMAN2 MXD3 PRELID1
          nsv515632 Chr.5:177232569 - 177242486 on Build GRCh38 Gain NSD1
          dgv363n21 Chr.5:176931607 - 177242486 on Build GRCh38 Gain UIMC1 NSD1 ZNF346 FGFR4
          nsv525027 Chr.5:177210239 - 177242029 on Build GRCh38 Gain NSD1
          nsv521575 Chr.5:177187528 - 177282118 on Build GRCh38 Gain NSD1
          nsv3169955 Chr.5:177191023 - 177327664 on Build GRCh38 Duplication RAB24 NSD1 MXD3 PRELID1

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          More Information


          Additional Information:

          Set Membership:

          Intragenic Intronic Non-exonic DGV Variation Validated

          Gene Ontology Categories:

          Function(s) Process(es)

          negative regulation of transcription from RNA polymerase II promoter
          chromatin organization
          chromatin remodeling
          regulation of transcription, DNA-templated
          methylation
          regulation of peptidyl-serine phosphorylation
          positive regulation of transcription, DNA-templated
          regulation of RNA polymerase II regulatory region sequence-specific DNA binding
          RNA polymerase II core promoter proximal region sequence-specific DNA binding
          chromatin binding
          transcription cofactor activity
          transcription corepressor activity
          protein binding
          methyltransferase activity
          zinc ion binding
          transferase activity
          ligand-dependent nuclear receptor binding
          estrogen receptor binding
          histone methyltransferase activity
          histone methyltransferase activity (H4-K20 specific)
          retinoic acid receptor binding
          metal ion binding
          retinoid X receptor binding
          thyroid hormone receptor binding
          histone methyltransferase activity (H3-K36 specific)
          androgen receptor binding
          histone H3 methyltransferase activity
          histone H3K36 dimethyltransferase activity

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