Hs03647694_cn

• Gene Symbol: ALKBH4
• Assay Reference Genome Location: Chr.7:102464415 on build GRCh38
• Cytoband: 7q22.1

Target Gene Details

• Entrez Gene ID: 54784
• Gene Name: alkB homolog 4, lysine demethylase
• Gene Aliases: ABH4
• Location: Chr.7:102456220-102464874 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ALKBH4	NM_017621.3			NP_060091.1
	XM_005250464.2			XP_005250521.1
	XM_005250465.2			XP_005250522.1
	AK000020.1			BAA90888.1
	AK026097.1			BAB15358.1
	AK222689.1			BAD96409.1
	BC002820.2			AAH02820.1
	BC017096.1			AAH17096.1
	BX353099.2

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv831083	Chr.7:102340560 - 102655422 on Build GRCh38	Loss	PRKRIP1 LRWD1 POLR2J3 MIR4467 UPK3BL SPDYE2B LOC100289561 POLR2J2 LOC100630923 SPDYE6 RASA4 MIR5090 POLR2J ORAI2 LOC102724229 ALKBH4 LOC107983993 RASA4B SPDYE2 MIR548O
nsv8192	Chr.7:102450605 - 102692752 on Build GRCh38	Gain	LRWD1 POLR2J3 MIR4467 UPK3BL SPDYE2B POLR2J2 RASA4 MIR5090 POLR2J ORAI2 LOC102724229 ALKBH4 LOC107983993 RASA4B SPDYE2
dgv11540n54	Chr.7:102461896 - 102470443 on Build GRCh38	Loss	MIR5090 LRWD1 ALKBH4
nsv428182	Chr.7:102257460 - 102735503 on Build GRCh38	Gain	PRKRIP1 LRWD1 POLR2J3 MIR4285 MIR4467 UPK3BL SPDYE2B FBXL13 LOC100289561 CUX1 SH2B2 POLR2J2 LOC100630923 SPDYE6 RASA4 MIR5090 POLR2J ORAI2 LOC102724229 ALKBH4 LOC107983993 RASA4B SPDYE2 MIR548O
dgv6538n100	Chr.7:102171110 - 103063688 on Build GRCh38	Gain	PRKRIP1 POLR2J3 NFE4 MIR4285 MIR4467 FBXL13 CUX1 LOC100630923 SPDYE6 RASA4 POLR2J ORAI2 RASA4B SPDYE2 LRWD1 UPK3BL FAM185A SPDYE2B LOC100289561 SH2B2 POLR2J2 LRRC17 MIR5090 LOC102724229 ALKBH4 LOC107983993 MIR548O
nsv607998	Chr.7:102385213 - 102473462 on Build GRCh38	Gain+Loss	PRKRIP1 MIR5090 POLR2J LRWD1 ORAI2 MIR4467 ALKBH4 LOC100630923 MIR548O
nsv5879	Chr.7:102450321 - 102747356 on Build GRCh38	Deletion	LRWD1 POLR2J3 MIR4467 UPK3BL SPDYE2B FBXL13 POLR2J2 RASA4 MIR5090 POLR2J ORAI2 LOC102724229 ALKBH4 LOC107983993 RASA4B SPDYE2
nsv607999	Chr.7:102451288 - 102473452 on Build GRCh38	Loss	MIR5090 POLR2J LRWD1 ORAI2 MIR4467 ALKBH4

More Information

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

Panther Classification:

Molecular Function -

oxidoreductase, oxygenase, metabolite interconversion enzyme

Gene Ontology Categories:

Process(es)

transcription, DNA-templated
regulation of transcription, DNA-templated
protein demethylation
actomyosin structure organization
cleavage furrow ingression
oxidation-reduction process

Function(s)

actin binding
protein binding
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors
demethylase activity
metal ion binding