Hs00476919_cn

• Gene Symbol: ALKBH4
• Assay Reference Genome Location: Chr.7:102459636 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: Overlaps Intron 2 - Exon 2

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

More Information

• Set Membership: Intragenic, 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