Hs00559637_cn

• Gene Symbol: CACFD1
• Assay Reference Genome Location: Chr.9:133469716 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	1558	NP_001129247.1
	NM_001242369.1	6	1809	NP_001229298.1
	NM_001242370.1	5	1683	NP_001229299.1
	NM_017586.3	5	1684	NP_060056.1
	XM_011518181.2	6	3366	XP_011516483.1
	XM_011518182.1	6	1862	XP_011516484.1
	XM_011518184.1	5	2425	XP_011516486.1
	XM_011518185.2	5	3241	XP_011516487.1
	XM_011518186.1	5	1737	XP_011516488.1
	AJ011373.1	5	1640	CAB66156.1
	AK074852.1	5	1662	BAC11245.1
	AK075416.1	4	1556	BAC11606.1
	AK075548.1	5	1652	BAC11691.1
	AL137319.1	1	229
	AY358452.1	5	1632	AAQ88817.1
	BC030558.1	5	1650	AAH30558.1

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	LOC101448202 MIR3689A SNORD36B LOC101928193 LINC00094 MED22 LOC401557 MIR6877 PPP1R26 LOC100996574 CELP SURF2 LOC105376306 LCN1 GTF3C5 TMEM8C MIR3689D1 RALGDS AK8 SLC2A6 STKLD1 C9orf62 SNORD36C ADAMTS13 MIR3689E VAV2 COL5A1 CACFD1 BRD3 PPP1R26-AS1 SURF4 WDR5 MIR4669 SNORD24 SURF6 LOC101928525 REXO4 DBH-AS1 C9orf116 DBH RNU6ATAC MRPS2 RPL7A MIR548AW SURF1 RXRA MIR3689F ABO SNORD36A ADAMTSL2 SARDH FCN2 OBP2B LOC100130548 GBGT1 OLFM1 MIR3689B SPACA9 CEL TSC1 MIR3689C FAM163B COL5A1-AS1 MIR3689D2 FCN1 GFI1B SNORD141A

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