Hs01356032_cn

• Gene Symbol: KDM5A
• Assay Reference Genome Location: Chr.12:280967 on build GRCh38
• Cytoband: 12p13.33

Target Gene Details

• Entrez Gene ID: 5927
• Gene Name: lysine demethylase 5A
• Gene Aliases: RBBP-2, RBBP2, RBP2
• Location: Chr.12:280057-389455 on Build GRCh38
• Assay Gene Location: Within Exon 28

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
KDM5A	NM_001042603.2	28	9926	NP_001036068.1
	AL133026.1	1	2858

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv1050912	Chr.12:262244 - 292982 on Build GRCh38	Gain	SLC6A13 KDM5A
esv2759875	Chr.12:225844 - 881378 on Build GRCh38	Gain+Loss	WNK1 LOC100049716 CCDC77 B4GALNT3 SLC6A13 KDM5A LOC105369595 NINJ2 LOC102723544
nsv1050781	Chr.12:212187 - 674733 on Build GRCh38	Loss	LOC100049716 CCDC77 B4GALNT3 SLC6A13 KDM5A SLC6A12 LOC105369595 NINJ2 LOC102723544
nsv570	Chr.12:257625 - 286657 on Build GRCh38	Deletion	SLC6A13 KDM5A
esv34939	Chr.12:262620 - 323985 on Build GRCh38	Loss	SLC6A13 KDM5A

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

histone modifying enzyme

Gene Ontology Categories:

Process(es)

negative regulation of transcription from RNA polymerase II promoter
transcription from RNA polymerase II promoter
spermatogenesis
male gonad development
circadian regulation of gene expression
histone H3-K4 demethylation
positive regulation of transcription, DNA-templated
oxidation-reduction process
negative regulation of histone deacetylase activity

Function(s)

DNA binding
transcription factor activity, sequence-specific DNA binding
transcription coactivator activity
protein binding
zinc ion binding
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
chromatin DNA binding
histone demethylase activity