Hs07183984_cn

• Gene Symbol: CCM2L
• Assay Reference Genome Location: Chr.20:32011940 on build GRCh38
• Cytoband: 20q11.21

Target Gene Details

• Entrez Gene ID: 140706
• Gene Name: CCM2 like scaffolding protein
• Gene Aliases: C20orf160, dJ310O13.5
• Location: Chr.20:32010379-32032182 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CCM2L	NM_080625.3			NP_542192.2
	XM_006723706.3			XP_006723769.1
	XM_011528566.1			XP_011526868.1
	XM_011528568.2			XP_011526870.1
	XM_011528569.1			XP_011526871.1
	AK057090.1			BAB71363.1
	BC030254.1			AAH30254.1
	CA406781.1
	DA936380.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv833952	Chr.20:31855501 - 32049500 on Build GRCh38	Gain	TTLL9 DUSP15 CCM2L PDRG1 XKR7
dgv4300n100	Chr.20:31247234 - 32033468 on Build GRCh38	Gain	TTLL9 DEFB121 DEFB122 DEFB117 DEFB116 ID1 DEFB119 FOXS1 DEFB115 ABALON HM13-AS1 PDRG1 MYLK2 XKR7 REM1 MIR3193 COX4I2 DEFB124 LINC00028 LOC107985416 TPX2 HM13 DEFB118 DUSP15 DEFB123 CCM2L BCL2L1

More Information

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

Gene Ontology Categories:

Process(es)

cardiac atrium morphogenesis
ventricular trabecula myocardium morphogenesis
biological_process
negative regulation of protein binding
negative regulation of homotypic cell-cell adhesion
wound healing
cardiac muscle tissue growth
positive regulation of fibroblast growth factor production

Function(s)

molecular_function