Hs03627762_cn

• Gene Symbol: AKR1D1
• Assay Reference Genome Location: Chr.7:138111909 on build GRCh38
• Cytoband: 7q33

Target Gene Details

• Entrez Gene ID: 6718
• Gene Name: aldo-keto reductase family 1, member D1
• Gene Aliases: 3o5bred, CBAS2, SRD5B1
• Location: Chr.7:138076432-138118304 on Build GRCh38
• Assay Gene Location: Within Intron 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
AKR1D1	NM_001190906.1			NP_001177835.1
	NM_001190907.1			NP_001177836.1
	NM_005989.3			NP_005980.1
	AK058142.1			BAB71682.1
	AK289425.1
	AK298421.1
	AK298428.1
	BC130625.1
	BC130627.1
	Z28339.1			CAA82193.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv34048	Chr.7:138039346 - 138528374 on Build GRCh38	Loss	AKR1D1 MIR4468 TRIM24
esv33947	Chr.7:137235266 - 138283104 on Build GRCh38	Gain	AKR1D1 PTN MIR4468 LOC105375527 LOC100130880 CREB3L2 DGKI
esv2735212	Chr.7:138060002 - 140415947 on Build GRCh38	Deletion	ATP6V0A4 JHDM1D-AS1 CLEC2L UBN2 KLRG2 TRIM24 ZC3HAV1 TTC26 HIPK2 SVOPL AKR1D1 LUC7L2 C7orf55-LUC7L2 SLC37A3 KDM7A MIR4468 FMC1 TMEM213 PARP12 TBXAS1 LOC105375532 ZC3HAV1L RAB19 KIAA1549 LOC100129148 LOC105375531
nsv518070	Chr.7:137849881 - 138124093 on Build GRCh38	Gain	AKR1D1 MIR4468 LOC100130880 CREB3L2
nsv831151	Chr.7:138026701 - 138180725 on Build GRCh38	Gain+Loss	AKR1D1 MIR4468

More Information

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

Panther Classification:

Molecular Function -

oxidoreductase, reductase, metabolite interconversion enzyme

Gene Ontology Categories:

Process(es)

bile acid biosynthetic process
cholesterol catabolic process
digestion
C21-steroid hormone metabolic process
androgen metabolic process
bile acid catabolic process
oxidation-reduction process

Function(s)

aldo-keto reductase (NADP) activity
steroid binding
delta4-3-oxosteroid 5beta-reductase activity