Hs02239567_cn

• Gene Symbol: CACFD1
• Assay Reference Genome Location: Chr.9:133470433 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	2275	NP_001129247.1
	NM_001242369.1	6	2526	NP_001229298.1
	NM_001242370.1	5	2400	NP_001229299.1
	NM_017586.3	5	2401	NP_060056.1
	XM_011518181.2	6	4083	XP_011516483.1
	XM_011518182.1	6	2579	XP_011516484.1
	XM_011518184.1	5	3142	XP_011516486.1
	XM_011518185.2	5	3958	XP_011516487.1
	XM_011518186.1	5	2454	XP_011516488.1
	AA436195.1	1	366
	AJ011373.1	5	2357	CAB66156.1
	AK074852.1	5	2379	BAC11245.1
	AK075416.1	4	2273	BAC11606.1
	AK075548.1	5	2369	BAC11691.1
	AL137319.1	1	946
	AY358452.1	5	2349	AAQ88817.1
	BC030558.1	5	2367	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	SPACA9 ADAMTS13 MIR3689B LCN1 SURF6 RNU6ATAC MIR548AW LOC101928193 PPP1R26-AS1 C9orf62 COL5A1-AS1 CEL MIR4669 SARDH MIR3689D1 SNORD36C OBP2B LOC100996574 MIR3689D2 VAV2 DBH-AS1 FCN1 MED22 DBH SURF4 SNORD36A RXRA SURF1 REXO4 SNORD36B GFI1B MIR3689E C9orf116 LOC101928525 MIR3689C COL5A1 RPL7A CACFD1 ABO MRPS2 GTF3C5 STKLD1 SURF2 LINC00094 AK8 SNORD24 ADAMTSL2 GBGT1 FCN2 LOC105376306 LOC101448202 FAM163B MIR3689F MIR3689A CELP OLFM1 RALGDS MIR6877 SLC2A6 LOC100130548 PPP1R26 TMEM8C TSC1 LOC401557 BRD3 WDR5 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