Gene table of SKI : SKI proto-oncogene

Gene-disease associations table

Disease ID	Disease name	Source of annotation with SKI	OMIM link	Number of associated genes	genes
182212	SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME	ClinVar, OMIM, HUMSAVAR	link to OMIM	2	KIF1BP, SKI

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
Generic Transcription Pathway	R-HSA-212436	3.86
Gene Expression	R-HSA-74160	2.72
Signaling by TGF-beta Receptor Complex	R-HSA-170834	6.81
Signaling by BMP	R-HSA-201451	8.46
Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer	R-HSA-2173793	7.56
Downregulation of SMAD2/3:SMAD4 transcriptional activity	R-HSA-2173795	8.46
Signal Transduction	R-HSA-162582	1.78

Associated GO terms for Molecular function

GO term	GO ID	GO IC
ubiquitin-like protein ligase binding	GO:0044389	4.15
enzyme binding	GO:0019899	2.27
binding	GO:0005488	0.18
enzyme inhibitor activity	GO:0004857	3.78
molecular function regulator	GO:0098772	2.51
repressing transcription factor binding	GO:0070491	5.71
cation binding	GO:0043169	1.4
transition metal ion binding	GO:0046914	2.48
transcription corepressor activity	GO:0003714	4.33
transcription cofactor activity	GO:0003712	3.44
histone deacetylase inhibitor activity	GO:0046811	9.05
ion binding	GO:0043167	1.36
transcription factor activity, transcription factor binding	GO:0000989	3.36
transcription factor activity, protein binding	GO:0000988	3.35
metal ion binding	GO:0046872	1.41
transcription factor binding	GO:0008134	3.46
histone deacetylase regulator activity	GO:0035033	8.64
enzyme regulator activity	GO:0030234	2.85
SMAD binding	GO:0046332	5.45
kinase binding	GO:0019900	3.32
protein domain specific binding	GO:0019904	3.32
protein kinase binding	GO:0019901	3.44
ubiquitin protein ligase binding	GO:0031625	4.17
protein binding	GO:0005515	0.46
zinc ion binding	GO:0008270	2.66