Hs01320761_cn

• Gene Symbol: CC2D1A
• Assay Reference Genome Location: Chr.19:13913486 on build GRCh38
• Cytoband: 19p13.12

Target Gene Details

• Entrez Gene ID: 54862
• Gene Name: coiled-coil and C2 domain containing 1A
• Gene Aliases: FREUD-1, Freud-1/Aki1, MRT3
• Location: Chr.19:13906143-13930880 on Build GRCh38
• Assay Gene Location: Within Exon 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CC2D1A	NM_017721.4	6	895	NP_060191.3
	XM_005259972.2	6	843	XP_005260029.1
	XM_005259973.2	6	843	XP_005260030.1
	XM_005259974.2	6	843	XP_005260031.1
	XM_005259975.2	6	843	XP_005260032.1
	AB097002.1	6	837	BAC77355.1
	AF536205.1	8	948	AAN04488.1
	AK123155.1	4	653
	AK315068.1	6	813
	BC064981.1	6	799	AAH64981.1
	BC113968.1	5	524	AAI13969.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv833760	Chr.19:13872472 - 13928073 on Build GRCh38	Loss	CC2D1A MIR181C C19orf57 NANOS3 MIR181D
nsv953979	Chr.19:13795787 - 14006888 on Build GRCh38	Deletion	RFX1 ZSWIM4 NANOS3 MIR181D MIR23A CC2D1A LOC284454 DCAF15 MIR181C C19orf57 MIR24-2 MIR27A PODNL1
nsv833757	Chr.19:13725904 - 13951988 on Build GRCh38	Loss	ZSWIM4 C19orf53 NANOS3 MIR181D MIR23A CC2D1A LOC284454 MRI1 MIR181C C19orf57 MIR24-2 CCDC130 MIR27A PODNL1

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

negative regulation of transcription from RNA polymerase II promoter
transcription, DNA-templated
signal transduction
positive regulation of I-kappaB kinase/NF-kappaB signaling
cell-cell adhesion

Function(s)

RNA polymerase II core promoter proximal region sequence-specific DNA binding
RNA polymerase II transcription factor activity, sequence-specific DNA binding
transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding
signal transducer activity
protein binding
cadherin binding involved in cell-cell adhesion