Name: [Hs01018769_cn] [AMBRA1]
Creator: Thermo Fisher Scientific
Keywords: [AMBRA1] Assay, [autophagy and beclin 1 regulator 1] Assay

Genomic Map

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Assay Details

Entrez Gene ID:	55626
Gene Name:	autophagy and beclin 1 regulator 1
Gene Aliases:	DCAF3, WDR94
Location:	Chr.11:46396412-46594069 on Build GRCh38
Assay Gene Location:	Within Exon 21

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
AMBRA1	NM_001267782.1	20	4190	NP_001254711.1
	NM_001267783.1	18	3824	NP_001254712.1
	NM_001300731.1	17	4001	NP_001287660.1
	NM_017749.3	19	3909	NP_060219.2
	XM_005253009.3	18	4177	XP_005253066.1
	XM_005253011.3	17	4090	XP_005253068.1
	XM_005253014.3	19	3907	XP_005253071.1
	XM_006718259.2	18	4058	XP_006718322.1
	XM_006718260.2	17	3640	XP_006718323.1
	XM_017018007.1	16	3910	XP_016873496.1
	AB051523.1	17	3953
	AK000301.1	20	4140	BAA91067.1
	AK023197.1	12	2432	BAB14457.1
	AK057896.1	3	630
	AK302808.1	18	4239
	AL834190.1	18	3704
	BC045609.1	19	3909	AAH45609.1
	DQ870924.1	16	3732

Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
esv3626186	Chr.11:46392885 - 46412875 on Build GRCh38	Loss	AMBRA1
esv3626185	Chr.11:46361673 - 46411056 on Build GRCh38	Loss	MIR4688 AMBRA1 MDK CHRM4 DGKZ
nsv309	Chr.11:46378128 - 46418953 on Build GRCh38	Deletion	AMBRA1 MDK CHRM4 DGKZ
esv3626183	Chr.11:46227941 - 46507334 on Build GRCh38	Gain	CREB3L1 MIR3160-2 MIR3160-1 RPS10P19 MIR4688 AMBRA1 MDK CHRM4 DGKZ
nsv554202	Chr.11:46312688 - 46448350 on Build GRCh38	Loss	CREB3L1 RPS10P19 MIR4688 AMBRA1 MDK CHRM4 DGKZ
nsv825867	Chr.11:46281633 - 46404063 on Build GRCh38	Gain	CREB3L1 MIR4688 AMBRA1 MDK CHRM4 DGKZ
nsv554201	Chr.11:46260284 - 46401136 on Build GRCh38	Loss	CREB3L1 MIR4688 AMBRA1 MDK CHRM4 DGKZ

Intragenic

Exonic

DGV Variation

Function(s) Process(es)