Hs00162229_cn

• Gene Symbol: C3orf18
• Assay Reference Genome Location: Chr.3:50571324 on build GRCh38
• Cytoband: 3p21.31

Target Gene Details

• Entrez Gene ID: 51161
• Gene Name: chromosome 3 open reading frame 18
• Gene Aliases: G20
• Location: Chr.3:50558025-50574835 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
C3orf18	XM_011533781.2			XP_011532083.1

Target Gene Details

• Entrez Gene ID: 51409
• Gene Name: HemK methyltransferase family member 1
• Gene Aliases: HEMK, MTQ1
• Location: Chr.3:50569152-50589050 on Build GRCh38
• Assay Gene Location: Overlaps Exon 2 - Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
HEMK1	NM_001317851.1			NP_001304780.1
	NM_016173.4			NP_057257.1
	XM_005265218.3			XP_005265275.1
	XM_011533806.2			XP_011532108.1
	XM_011533807.1			XP_011532109.1
	XM_011533808.1			XP_011532110.1
	XM_011533809.2			XP_011532111.1
	XM_011533810.2			XP_011532112.1
	XM_011533812.2			XP_011532114.1
	XM_011533813.2			XP_011532115.1
	XM_011533814.2			XP_011532116.1
	AF131220.1			AAD26417.1
	AF172244.1			AAD51328.1
	AK025973.1
	AK124369.1	1	1758
	AK314023.1
	BC000781.2			AAH00781.1
	BX537562.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3584502	Chr.3:50327055 - 50622310 on Build GRCh38	Gain	RASSF1 CYB561D2 NPRL2 CISH TUSC2 HEMK1 ZMYND10 TMEM115 C3orf18 RASSF1-AS1 MAPKAPK3 CACNA2D2
nsv460533	Chr.3:50536782 - 50640720 on Build GRCh38	Loss	CISH HEMK1 C3orf18 MAPKAPK3
nsv590272	Chr.3:50498842 - 50578618 on Build GRCh38	Loss	HEMK1 C3orf18 CACNA2D2

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

protein modifying enzyme

Gene Ontology Categories:

Process(es)

DNA methylation
protein methylation

Function(s)

DNA binding
protein binding
N-methyltransferase activity
protein methyltransferase activity