Hs00699203_cn

• Gene Symbol: MAK
• Assay Reference Genome Location: Chr.6:10764061 on build GRCh38
• Cytoband: 6p24.2

Target Gene Details

• Entrez Gene ID: 4117
• Gene Name: male germ cell associated kinase
• Gene Aliases: RP62
• Location: Chr.6:10762723-10838954 on Build GRCh38
• Assay Gene Location: Within Exon 18

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MAK	NM_001242385.1	13	2446	NP_001229314.1
	NM_001242957.2	14	2567	NP_001229886.1
	NM_005906.5	13	2492	NP_005897.1
	NR_134935.1	15	2650
	NR_134936.1	15	2806
	XM_011514619.2	15	2706	XP_011512921.1
	XM_011514620.2	15	3493	XP_011512922.1
	XM_011514621.2	14	2689	XP_011512923.1
	XM_011514622.2	13	2823	XP_011512924.1
	XM_011514624.2	9	1662	XP_011512926.1
	XM_017010863.1	15	3019	XP_016866352.1
	XM_017010864.1	14	2942	XP_016866353.1
	XM_017010865.1	12	2494	XP_016866354.1
	AB593146.1	13	2400

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv966670	Chr.6:10447438 - 10871656 on Build GRCh38	Duplication	GCNT2 TMEM14C TMEM14B MIR5689HG MAK C6orf52 LOC101928106 PAK1IP1
nsv462631	Chr.6:10449025 - 10839526 on Build GRCh38	Gain	GCNT2 TMEM14C TMEM14B MIR5689HG MAK C6orf52 LOC101928106 PAK1IP1
nsv470800	Chr.6:10538711 - 10863092 on Build GRCh38	Gain	GCNT2 TMEM14C TMEM14B MAK C6orf52 PAK1IP1

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

non-receptor serine/threonine protein kinase

Gene Ontology Categories:

Process(es)

transcription, DNA-templated
regulation of transcription, DNA-templated
protein phosphorylation
multicellular organism development
spermatogenesis
cell differentiation
photoreceptor cell maintenance
protein autophosphorylation
regulation of cell cycle

Function(s)

transcription coactivator activity
protein kinase activity
cyclin-dependent protein serine/threonine kinase activity
protein binding
ATP binding