Hs07511857_cn

• Gene Symbol: MCPH1
• Assay Reference Genome Location: Chr.8:6616277 on build GRCh38
• Cytoband: 8p23.1

Target Gene Details

• Entrez Gene ID: 79648
• Gene Name: microcephalin 1
• Gene Aliases: BRIT1, MCT
• Location: Chr.8:6406592-6648505 on Build GRCh38
• Assay Gene Location: Within Intron 17

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MCPH1	NM_001322042.1			NP_001308971.1
	NM_024596.4			NP_078872.2
	XM_011534755.2			XP_011533057.1
	XM_011534760.2			XP_011533062.1
	XM_017013829.1			XP_016869318.1
	XM_017013830.1			XP_016869319.1
	XM_017013831.1			XP_016869320.1
	XM_017013832.1			XP_016869321.1
	XM_017013833.1			XP_016869322.1
	XM_017013834.1			XP_016869323.1
	AI480294.1
	AK022909.1			BAB14304.1

Target Gene Details

• Entrez Gene ID: 100507530
• Gene Name: MCPH1 antisense RNA 1
• Gene Aliases: -
• Location: Chr.8:6615603-6708209 on Build GRCh38
• Assay Gene Location: Within Exon 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MCPH1-AS1	NR_125386.1	5	3458
	AK057771.1	1	922	BAB71565.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1021684	Chr.8:6492570 - 6951933 on Build GRCh38	Loss	DEFA6 DEFB1 MIR4659A MIR4659B DEFA4 AGPAT5 MCPH1 MIR8055 XKR5 MCPH1-AS1 ANGPT2 GS1-24F4.2 DEFA8P
nsv1161706	Chr.8:6602062 - 6630317 on Build GRCh38	Duplication	MIR8055 MCPH1-AS1 MCPH1
nsv610004	Chr.8:6544845 - 6915391 on Build GRCh38	Gain	MIR8055 DEFB1 XKR5 MIR4659A MCPH1-AS1 MIR4659B ANGPT2 GS1-24F4.2 AGPAT5 MCPH1
nsv1025976	Chr.8:6615427 - 6829450 on Build GRCh38	Loss	MIR8055 XKR5 MIR4659A MCPH1-AS1 MIR4659B AGPAT5 MCPH1
nsv6058	Chr.8:6599506 - 6616816 on Build GRCh38	Insertion	MCPH1-AS1 MCPH1
esv2422383	Chr.8:6504868 - 6924071 on Build GRCh38	Duplication	MIR8055 DEFB1 XKR5 MIR4659A MCPH1-AS1 MIR4659B ANGPT2 GS1-24F4.2 AGPAT5 MCPH1
esv3616094	Chr.8:6548175 - 6638852 on Build GRCh38	Gain	MIR8055 MCPH1-AS1 ANGPT2 MCPH1

More Information

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

Panther Classification:

Molecular Function -

DNA metabolism protein, damaged DNA-binding protein, nucleic acid metabolism protein

Gene Ontology Categories:

Process(es)

cerebral cortex development
mitotic cell cycle arrest

Function(s)

protein binding
identical protein binding