Hs04063134_cn

• Gene Symbol: HELZ2
• Assay Reference Genome Location: Chr.20:63558499 on build GRCh38
• Cytoband: 20q13.33

Target Gene Details

• Entrez Gene ID: 85441
• Gene Name: helicase with zinc finger 2
• Gene Aliases: PDIP-1, PRIC285
• Location: Chr.20:63558086-63574239 on Build GRCh38
• Assay Gene Location: Within Exon 20

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
HELZ2	NM_001037335.2	20	9589	NP_001032412.2
	NM_033405.3	14	7094	NP_208384.3
	AB051556.2	14	7094
	AF517673.1	14	7414	AAM74197.1
	AK074171.1	12	4123	BAB84997.1
	BC150283.1	14	7094
	BQ707207.1	1	188

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv953306	Chr.20:63151949 - 63571247 on Build GRCh38	Deletion	LOC107985425 EEF1A2 LOC100130587 PPDPF NKAIN4 LOC100130152 LOC102723788 BIRC7 COL20A1 PTK6 FLJ16779 FNDC11 SRMS MIR3196 MIR124-3 YTHDF1 MIR4326 KCNQ2 HELZ2 ARFGAP1 CHRNA4
nsv586573	Chr.20:63535645 - 63560584 on Build GRCh38	Loss	FNDC11 SRMS HELZ2 PTK6
nsv521734	Chr.20:63522433 - 63566995 on Build GRCh38	Loss	FNDC11 SRMS HELZ2 PTK6
nsv9825	Chr.20:62775470 - 63601330 on Build GRCh38	Gain	LOC107985428 PPDPF LINC01056 LOC102723788 MRGBP GMEB2 DPH3P1 TCFL5 PTK6 OGFR-AS1 FNDC11 COL9A3 LINC00659 GID8 KCNQ2 HELZ2 ARFGAP1 CHRNA4 LOC107985425 BHLHE23 EEF1A2 LOC100130587 NKAIN4 LOC100130152 SLC17A9 HAR1A BIRC7 COL20A1 HAR1B FLJ16779 LINC00029 SRMS LOC63930 OGFR MIR3196 MIR124-3 YTHDF1 MIR4326 DIDO1
nsv470563	Chr.20:63486715 - 63793308 on Build GRCh38	Loss	LOC100505771 EEF1A2 PPDPF RTEL1 ZGPAT ARFRP1 RTEL1-TNFRSF6B ZBTB46 GMEB2 PTK6 STMN3 SLC2A4RG FNDC11 LIME1 SRMS TNFRSF6B HELZ2
nsv834034	Chr.20:63462825 - 63625901 on Build GRCh38	Loss	FNDC11 SRMS EEF1A2 PPDPF KCNQ2 GMEB2 HELZ2 PTK6
nsv517702	Chr.20:63540916 - 63581575 on Build GRCh38	Loss	FNDC11 SRMS HELZ2
esv2758806	Chr.20:63470996 - 63745014 on Build GRCh38	Gain+Loss	LOC100505771 EEF1A2 PPDPF RTEL1 ZGPAT ARFRP1 RTEL1-TNFRSF6B ZBTB46 GMEB2 PTK6 STMN3 SLC2A4RG FNDC11 LIME1 SRMS TNFRSF6B KCNQ2 HELZ2

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

DNA metabolism protein

Gene Ontology Categories:

Process(es)

transcription, DNA-templated
cellular lipid metabolic process
positive regulation of transcription from RNA polymerase II promoter

Function(s)

DNA binding
helicase activity
protein binding
ATP binding
ligand-dependent nuclear receptor transcription coactivator activity
poly(A) RNA binding
metal ion binding