Gene table of NSD1 : nuclear receptor binding SET domain protein 1

Gene-disease associations table

Disease ID	Disease name	Source of annotation with NSD1	OMIM link	Number of associated genes	genes
601626	LEUKEMIA, ACUTE MYELOID	OMIM	link to OMIM	23	FLT3, RUNX1, WHSC1L1, KIT, MLF1, CHIC2, CEBPA, LPP, SH3GL1, PICALM, NPM1, CBFB, ETV6, SETBP1, MLLT10, TERT, NUP214, JAK2, GATA2, TGM6, DDX41, NSD1, KRAS
PS117550	SOTOS SYNDROME	ClinVar, OMIM, HUMSAVAR	link to OMIM	2	NSD1, NFIX
130650	BECKWITH-WIEDEMANN SYNDROME	ClinVar, OMIM	link to OMIM	5	NSD1, CDKN1C, H19, ICR1, KCNQ1OT1

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Annotation of the gene NSD1

Associated genes in ENSEMBL

ENSG00000165671

Associated proteins - SwissProt Accession ID

Q96L73

Associated PDB IDs

3ooi

Cytogenetic Band

5q35.3

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

It is a TF of the genes:

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Lysine degradation	hsa00310	7.01

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Chromatin organization	R-HSA-4839726	5.19
PKMTs methylate histone lysines	R-HSA-3214841	7.66
Chromatin modifying enzymes	R-HSA-3247509	5.19

Associated GO terms for Molecular function

GO term	GO ID	GO IC
histone-lysine N-methyltransferase activity	GO:0018024	5.93
histone methyltransferase activity	GO:0042054	5.68
RNA polymerase II regulatory region DNA binding	GO:0001012	3.36
lysine N-methyltransferase activity	GO:0016278	5.7
protein-lysine N-methyltransferase activity	GO:0016279	5.71
protein methyltransferase activity	GO:0008276	5.33
macromolecular complex binding	GO:0044877	2.61
histone methyltransferase activity (H3-K36 specific)	GO:0046975	7.95
nucleic acid binding	GO:0003676	1.44
DNA binding	GO:0003677	1.92
methyltransferase activity	GO:0008168	4.35
nuclear hormone receptor binding	GO:0035257	4.7
heterocyclic compound binding	GO:1901363	1.06
sequence-specific DNA binding	GO:0043565	2.79
sequence-specific double-stranded DNA binding	GO:1990837	3.2
transition metal ion binding	GO:0046914	2.48
transcription corepressor activity	GO:0003714	4.33
zinc ion binding	GO:0008270	2.66
transcription cofactor activity	GO:0003712	3.44
ion binding	GO:0043167	1.36
transferase activity	GO:0016740	1.95
transferase activity, transferring one-carbon groups	GO:0016741	4.3
transcription factor activity, transcription factor binding	GO:0000989	3.36
transcription factor activity, protein binding	GO:0000988	3.35
double-stranded DNA binding	GO:0003690	3.09
metal ion binding	GO:0046872	1.41
histone methyltransferase activity (H4-K20 specific)	GO:0042799	8.13
steroid hormone receptor binding	GO:0035258	5.32
estrogen receptor binding	GO:0030331	6.05
cation binding	GO:0043169	1.4
S-adenosylmethionine-dependent methyltransferase activity	GO:0008757	4.81
transcription factor binding	GO:0008134	3.46
regulatory region nucleic acid binding	GO:0001067	3.03
thyroid hormone receptor binding	GO:0046966	6.34
N-methyltransferase activity	GO:0008170	5.26
core promoter binding	GO:0001047	4.71
core promoter sequence-specific DNA binding	GO:0001046	5.12
hormone receptor binding	GO:0051427	4.57
androgen receptor binding	GO:0050681	6.07
transcription regulatory region DNA binding	GO:0044212	3.03
chromatin binding	GO:0003682	3.64
catalytic activity	GO:0003824	1.05
organic cyclic compound binding	GO:0097159	1.05
retinoid X receptor binding	GO:0046965	6.79
transcription regulatory region sequence-specific DNA binding	GO:0000976	3.24
RNA polymerase II regulatory region sequence-specific DNA binding	GO:0000977	3.37
protein binding	GO:0005515	0.46
regulatory region DNA binding	GO:0000975	3.03
retinoic acid receptor binding	GO:0042974	5.83
receptor binding	GO:0005102	2.43
RNA polymerase II core promoter sequence-specific DNA binding	GO:0000979	5.77
binding	GO:0005488	0.18