Hs01621650_cn

• Gene Symbol: MAK
• Assay Reference Genome Location: Chr.6:10763957 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	2550	NP_001229314.1
	NM_001242957.2	14	2671	NP_001229886.1
	NM_005906.5	13	2596	NP_005897.1
	NR_134935.1	15	2754
	NR_134936.1	15	2910
	XM_011514619.2	15	2810	XP_011512921.1
	XM_011514620.2	15	3597	XP_011512922.1
	XM_011514621.2	14	2793	XP_011512923.1
	XM_011514622.2	13	2927	XP_011512924.1
	XM_011514624.2	9	1766	XP_011512926.1
	XM_017010863.1	15	3123	XP_016866352.1
	XM_017010864.1	14	3046	XP_016866353.1
	XM_017010865.1	12	2598	XP_016866354.1
	AB593146.1	13	2504

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	C6orf52 MIR5689HG TMEM14C MAK PAK1IP1 TMEM14B GCNT2 LOC101928106
nsv462631	Chr.6:10449025 - 10839526 on Build GRCh38	Gain	C6orf52 MIR5689HG TMEM14C MAK PAK1IP1 TMEM14B GCNT2 LOC101928106
nsv470800	Chr.6:10538711 - 10863092 on Build GRCh38	Gain	C6orf52 TMEM14C MAK PAK1IP1 TMEM14B GCNT2

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