Gene table of IKBKAP : inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein

Gene-disease associations table

Disease ID	Disease name	Source of annotation with IKBKAP	OMIM link	Number of associated genes	genes
PS162400	HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY	ClinVar, OMIM, HUMSAVAR	link to OMIM	14	DST, WNK1, NTRK1, PRDM12, DNMT1, IKBKAP, FAM134B, NGF, ATL1, KIF1A, SCN11A, ATL3, SPTLC2, SPTLC1

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
HATs acetylate histones	R-HSA-3214847	6.23
Chromatin organization	R-HSA-4839726	5.19
Chromatin modifying enzymes	R-HSA-3247509	5.19

Associated GO terms for Molecular function

GO term	GO ID	GO IC
enzyme binding	GO:0019899	2.27
molecular function regulator	GO:0098772	2.51
RNA polymerase binding	GO:0070063	6.15
kinase regulator activity	GO:0019207	4.5
protein binding	GO:0005515	0.46
protein kinase regulator activity	GO:0019887	4.6
transferase activity, transferring phosphorus-containing groups	GO:0016772	2.77
RNA polymerase core enzyme binding	GO:0043175	6.6
kinase activity	GO:0016301	2.93
basal transcription machinery binding	GO:0001098	6.44
basal RNA polymerase II transcription machinery binding	GO:0001099	6.44
catalytic activity	GO:0003824	1.05
transferase activity	GO:0016740	1.95
macromolecular complex binding	GO:0044877	2.61
binding	GO:0005488	0.18
signal transducer activity	GO:0004871	2.28
protein complex binding	GO:0032403	3.09
RNA polymerase II core binding	GO:0000993	6.79
enzyme regulator activity	GO:0030234	2.85
phosphorylase kinase regulator activity	GO:0008607	8.35