Hs04822952_cn

• Gene Symbol: CFAP97
• Assay Reference Genome Location: Chr.4:185208013 on build GRCh38
• Cytoband: 4q35.1

Target Gene Details

• Entrez Gene ID: 57587
• Gene Name: cilia and flagella associated protein 97
• Gene Aliases: KIAA1430, hmw
• Location: Chr.4:185159662-185210251 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CFAP97	XM_017008485.1			XP_016863974.1

Target Gene Details

• Entrez Gene ID: 83891
• Gene Name: sorting nexin 25
• Gene Aliases: MSTP043, SBBI31
• Location: Chr.4:185204237-185363971 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SNX25	NM_001317781.1			NP_001304710.1
	AY601647.1			AAT98627.1
	BM554003.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv596369	Chr.4:184907523 - 185314394 on Build GRCh38	Loss	HELT LOC101928877 SNX25 CFAP97 SLC25A4 MIR4455

More Information

Additional Information:

For this assay, SNP(s) [rs72706066] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

scaffold/adaptor protein

Gene Ontology Categories:

Process(es)

protein transport
negative regulation of transforming growth factor beta receptor signaling pathway
receptor catabolic process
negative regulation of pathway-restricted SMAD protein phosphorylation

Function(s)

molecular_function
type I transforming growth factor beta receptor binding
phosphatidylinositol binding