Hs02303578_cn

• Gene Symbol: CACFD1
• Assay Reference Genome Location: Chr.9:133469019 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	861	NP_001129247.1
	NM_001242369.1	6	1112	NP_001229298.1
	NM_001242370.1	5	986	NP_001229299.1
	NM_017586.3	5	987	NP_060056.1
	XM_011518181.2	6	2669	XP_011516483.1
	XM_011518182.1	6	1165	XP_011516484.1
	XM_011518184.1	5	1728	XP_011516486.1
	XM_011518185.2	5	2544	XP_011516487.1
	XM_011518186.1	5	1040	XP_011516488.1
	AJ011373.1	5	943	CAB66156.1
	AK074852.1	5	965	BAC11245.1
	AK075416.1	4	859	BAC11606.1
	AK075548.1	5	955	BAC11691.1
	AK298820.1	5	918
	AK304524.1	6	945
	AK311325.1	5	1043
	AY358452.1	5	935	AAQ88817.1
	BC030558.1	5	953	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	LOC100996574 SNORD24 SNORD141A BRD3 OBP2B GBGT1 AK8 SNORD36A PPP1R26-AS1 MRPS2 GTF3C5 SNORD36B RPL7A C9orf116 SLC2A6 TMEM8C OLFM1 RALGDS MIR3689D2 SURF1 LOC105376306 MIR3689A MIR548AW FAM163B SURF4 SURF2 VAV2 DBH MIR6877 C9orf62 SURF6 LOC401557 MIR3689E MIR3689C CACFD1 SPACA9 RXRA ABO GFI1B WDR5 RNU6ATAC TSC1 PPP1R26 REXO4 LCN1 CELP MIR3689D1 SARDH DBH-AS1 SNORD36C MED22 MIR3689F LOC101448202 COL5A1-AS1 LOC101928525 CEL FCN2 LOC100130548 MIR4669 ADAMTS13 COL5A1 FCN1 LOC101928193 STKLD1 MIR3689B LINC00094 ADAMTSL2

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