Hs05921055_cn

• Gene Symbol: RUFY3
• Assay Reference Genome Location: Chr.4:70727174 on build GRCh38
• Cytoband: 4q13.3

Target Gene Details

• Entrez Gene ID: 22902
• Gene Name: RUN and FYVE domain containing 3
• Gene Aliases: RIPX, SINGAR1, ZFYVE30
• Location: Chr.4:70704204-70808622 on Build GRCh38
• Assay Gene Location: Within Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RUFY3	NM_001037442.3			NP_001032519.1
	NM_001130709.1			NP_001124181.1
	NM_001291994.1			NP_001278923.1
	NM_014961.4			NP_055776.1
	XM_005265656.2			XP_005265713.1
	XM_011531750.2			XP_011530052.1
	XM_011531751.2			XP_011530053.1
	XM_011531752.2			XP_011530054.1
	XM_011531753.2			XP_011530055.1
	XM_011531754.2			XP_011530056.1
	XM_011531755.2			XP_011530057.1
	XM_011531756.2			XP_011530058.1
	XM_017007890.1			XP_016863379.1
	AB020678.1
	AF112221.1			AAF17208.1
	AK000911.1
	AK294421.1
	AK296501.1
	BC051716.1			AAH51716.1
	BM920380.1
	DB483639.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv829965	Chr.4:70630001 - 70806591 on Build GRCh38	Gain	RUFY3 UTP3 ENAM JCHAIN
nsv4380	Chr.4:70720666 - 70754529 on Build GRCh38	Insertion	RUFY3
nsv1012495	Chr.4:69979953 - 70947088 on Build GRCh38	Gain	AMTN MUC7 ODAM RUFY3 UTP3 ENAM CSN3 JCHAIN AMBN CSN1S2BP HTN1 SMR3B OPRPN CSN1S2AP STATH MOB1B HTN3 SMR3A GRSF1 PRR27 FDCSP CABS1

More Information

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

Gene Ontology Categories:

Process(es)

actin filament organization
positive regulation of cell migration
positive regulation of axon extension
negative regulation of axonogenesis
positive regulation of intracellular protein transport
regulation of establishment of cell polarity

Function(s)

protein binding