Gene table of CENPE : centromere protein E

Gene-disease associations table

Disease ID	Disease name	Source of annotation with CENPE	OMIM link	Number of associated genes	genes
PS251200	MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE	ClinVar, OMIM, HUMSAVAR	link to OMIM	16	CDK5RAP2, CENPE, MCPH1, MFSD2A, ANKLE2, ZNF335, CDK6, ASPM, CASC5, SASS6, STIL, CEP152, CENPJ, PHC1, CEP135, WDR62

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
Adaptive Immune System	R-HSA-1280218	3.19
RHO GTPase Effectors	R-HSA-195258	4.94
RHO GTPases Activate Formins	R-HSA-5663220	6.01
Resolution of Sister Chromatid Cohesion	R-HSA-2500257	6.18
Mitotic Metaphase and Anaphase	R-HSA-2555396	5.45
Separation of Sister Chromatids	R-HSA-2467813	5.55
Immune System	R-HSA-168256	2.37
Signaling by Rho GTPases	R-HSA-194315	4.43
Hemostasis	R-HSA-109582	3.98
M Phase	R-HSA-68886	4.87
Cell Cycle, Mitotic	R-HSA-69278	4.16
Mitotic Anaphase	R-HSA-68882	5.46
MHC class II antigen presentation	R-HSA-2132295	6.01
Cell Cycle	R-HSA-1640170	3.89
Factors involved in megakaryocyte development and platelet production	R-HSA-983231	5.88
Kinesins	R-HSA-983189	7.7
Mitotic Prometaphase	R-HSA-68877	6.08
Signal Transduction	R-HSA-162582	1.78

Associated GO terms for Molecular function

GO term	GO ID	GO IC
purine ribonucleoside triphosphate binding	GO:0035639	2.22
macromolecular complex binding	GO:0044877	2.61
binding	GO:0005488	0.18
ATPase activity	GO:0016887	3.65
heterocyclic compound binding	GO:1901363	1.06
nucleoside phosphate binding	GO:1901265	1.96
nucleoside binding	GO:0001882	2.21
nucleotide binding	GO:0000166	1.96
purine nucleoside binding	GO:0001883	2.22
ribonucleoside binding	GO:0032549	2.22
protein complex binding	GO:0032403	3.09
purine nucleotide binding	GO:0017076	2.19
motor activity	GO:0003774	4.81
microtubule motor activity	GO:0003777	5.34
hydrolase activity	GO:0016787	1.9
tubulin binding	GO:0015631	4.1
microtubule binding	GO:0008017	4.42
nucleoside-triphosphatase activity	GO:0017111	3.09
small molecule binding	GO:0036094	1.89
catalytic activity	GO:0003824	1.05
kinetochore binding	GO:0043515	8.35
hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides	GO:0016818	3.03
cytoskeletal protein binding	GO:0008092	3.02
carbohydrate derivative binding	GO:0097367	2.03
organic cyclic compound binding	GO:0097159	1.05
adenyl nucleotide binding	GO:0030554	2.4
hydrolase activity, acting on acid anhydrides	GO:0016817	3.03
pyrophosphatase activity	GO:0016462	3.04
adenyl ribonucleotide binding	GO:0032559	2.41
ATP binding	GO:0005524	2.43
protein binding	GO:0005515	0.46
purine ribonucleotide binding	GO:0032555	2.2
purine ribonucleoside binding	GO:0032550	2.22
ribonucleotide binding	GO:0032553	2.19