Gene table of ELP4 : elongator acetyltransferase complex subunit 4

Gene-disease associations table

Disease ID	Disease name	Source of annotation with ELP4	OMIM link	Number of associated genes	genes
106210	ANIRIDIA	ClinVar, OMIM	link to OMIM	2	PAX6, ELP4

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
kinase regulator activity	GO:0019207	4.5
enzyme binding	GO:0019899	2.27
macromolecular complex binding	GO:0044877	2.61
binding	GO:0005488	0.18
peptide N-acetyltransferase activity	GO:0034212	5.55
molecular function regulator	GO:0098772	2.51
phosphorylase kinase regulator activity	GO:0008607	8.35
RNA polymerase binding	GO:0070063	6.15
N-acetyltransferase activity	GO:0008080	5.27
histone acetyltransferase activity	GO:0004402	5.7
basal transcription machinery binding	GO:0001098	6.44
basal RNA polymerase II transcription machinery binding	GO:0001099	6.44
transferase activity	GO:0016740	1.95
transferase activity, transferring acyl groups	GO:0016746	4.2
transferase activity, transferring acyl groups other than amino-acyl groups	GO:0016747	4.37
N-acyltransferase activity	GO:0016410	5.08
protein complex binding	GO:0032403	3.09
protein kinase regulator activity	GO:0019887	4.6
enzyme regulator activity	GO:0030234	2.85
catalytic activity	GO:0003824	1.05
peptide-lysine-N-acetyltransferase activity	GO:0061733	5.68
RNA polymerase core enzyme binding	GO:0043175	6.6
acetyltransferase activity	GO:0016407	5.1
protein binding	GO:0005515	0.46
RNA polymerase II core binding	GO:0000993	6.79