Gene table of TMLHE : trimethyllysine hydroxylase, epsilon

Gene-disease associations table

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Disease ID	Disease name	Source of annotation with TMLHE	OMIM link	Number of associated genes	genes
PS209850	AUTISM, SUSCEPTIBLITY TO	ClinVar, OMIM	link to OMIM	13	CNTNAP2, PTCHD1, NLGN3, EN2, MET, MECP2, SHANK2, TMLHE, SLC9A9, CHD8, NLGN4X, EIF4E, RPL10

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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

KEGG pathway	KEGG ID	KEGG IC
Lysine degradation	hsa00310	7.01

Associated REACTOME pathways

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REACTOME pathway	REACTOME ID	REACTOME IC
Carnitine synthesis	R-HSA-71262	10.98
Metabolism of amino acids and derivatives	R-HSA-71291	5.4
Metabolism	R-HSA-1430728	2.34

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Associated GO terms for Molecular function

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GO term	GO ID	GO IC
trimethyllysine dioxygenase activity	GO:0050353	9.74
L-ascorbic acid binding	GO:0031418	6.69
oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	GO:0016702	6.44
oxidoreductase activity, acting on single donors with incorporation of molecular oxygen	GO:0016701	6.41
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors	GO:0016706	5.95
vitamin binding	GO:0019842	5.34
dioxygenase activity	GO:0051213	5.25
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	GO:0016705	4.65
iron ion binding	GO:0005506	4.65
carboxylic acid binding	GO:0031406	4.64

Showing 1 to 10 of 19 entries