Hs01463324_cn

• Gene Symbol: CACFD1
• Assay Reference Genome Location: Chr.9:133468626 on build GRCh38
• Cytoband: 9q34.2

Target Gene Details

• Entrez Gene ID: 11094
• Gene Name: calcium channel flower domain containing 1
• Gene Aliases: C9orf7, D9S2135, FLOWER
• Location: Chr.9:133459965-133470787 on Build GRCh38
• Assay Gene Location: Within Exon 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CACFD1	NM_001135775.2	4	468	NP_001129247.1
	NM_001242369.1	6	719	NP_001229298.1
	NM_001242370.1	5	593	NP_001229299.1
	NM_017586.3	5	594	NP_060056.1
	XM_011518181.2	6	2276	XP_011516483.1
	XM_011518182.1	6	772	XP_011516484.1
	XM_011518184.1	5	1335	XP_011516486.1
	XM_011518185.2	5	2151	XP_011516487.1
	XM_011518186.1	5	647	XP_011516488.1
	AJ011373.1	5	550	CAB66156.1
	AK074852.1	5	572	BAC11245.1
	AK075416.1	4	466	BAC11606.1
	AK075548.1	5	562	BAC11691.1
	AK296343.1	6	694
	AK298820.1	5	525
	AK304524.1	6	552
	AK311325.1	5	650
	AY358452.1	5	542	AAQ88817.1
	BC030558.1	5	560	AAH30558.1
	DA699497.1	4	405
	DB165724.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2739138	Chr.9:132727483 - 135521553 on Build GRCh38	Deletion	RPL7A OLFM1 CEL PPP1R26 GTF3C5 STKLD1 RXRA MED22 LOC105376306 MIR3689B SURF1 ABO REXO4 COL5A1-AS1 SNORD24 VAV2 ADAMTSL2 MIR3689A MIR3689F GBGT1 TSC1 SNORD36A FCN1 ADAMTS13 COL5A1 DBH-AS1 SNORD141A PPP1R26-AS1 LOC100130548 C9orf62 LOC101928525 LOC401557 MIR6877 MIR3689D2 DBH MIR3689C RNU6ATAC SURF6 CACFD1 TMEM8C CELP C9orf116 MIR3689D1 MRPS2 MIR3689E SLC2A6 LOC101448202 LOC100996574 FAM163B RALGDS GFI1B SNORD36C SNORD36B SURF4 FCN2 AK8 LINC00094 SPACA9 LCN1 SARDH MIR4669 BRD3 MIR548AW OBP2B WDR5 SURF2 LOC101928193

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

biological_process
membrane depolarization
calcium ion transmembrane transport

Function(s)

molecular_function
calcium channel activity
protein binding