Hs04726905_cn

• Gene Symbol: RUVBL1
• Assay Reference Genome Location: Chr.3:128075432 on build GRCh38
• Cytoband: 3q21.3

Target Gene Details

• Entrez Gene ID: 8607
• Gene Name: RuvB like AAA ATPase 1
• Gene Aliases: ECP-54, ECP54, INO80H, NMP 238, NMP238, PONTIN, Pontin52, RVB1, TIH1, TIP49, TIP49A
• Location: Chr.3:128064612-128153914 on Build GRCh38
• Assay Gene Location: Within Intron 13

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RUVBL1	NM_001319086.1			NP_001306015.1
	XM_011513248.1			XP_011511550.1
	XM_011513249.2			XP_011511551.1
	XM_017007356.1			XP_016862845.1
	XM_017007357.1			XP_016862846.1
	AK092163.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1001879	Chr.3:127956099 - 128143493 on Build GRCh38	Gain	KBTBD12 RUVBL1 RUVBL1-AS1 SEC61A1
nsv3991	Chr.3:128048752 - 128081671 on Build GRCh38	Insertion	RUVBL1 RUVBL1-AS1 SEC61A1
nsv1002685	Chr.3:127819453 - 128455596 on Build GRCh38	Gain	MGLL KBTBD12 RUVBL1 RUVBL1-AS1 SEC61A1 EEFSEC

More Information

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

Gene Ontology Categories:

Process(es)

box C/D snoRNP assembly
DNA repair
DNA recombination
chromatin remodeling
transcription, DNA-templated
regulation of transcription from RNA polymerase II promoter
mitotic nuclear division
spermatogenesis
DNA duplex unwinding
CENP-A containing nucleosome assembly
regulation of growth
histone H4 acetylation
histone H2A acetylation
cell division
cell-cell adhesion
regulation of mitophagy
positive regulation of protein targeting to mitochondrion
beta-catenin-TCF complex assembly
positive regulation of telomerase RNA localization to Cajal body

Function(s)

DNA helicase activity
protein binding
ATP binding
ATPase activity
ATP-dependent 5'-3' DNA helicase activity
cadherin binding involved in cell-cell adhesion