Hs00876472_cn

• Gene Symbol: AAGAB
• Assay Reference Genome Location: Chr.15:67254883 on build GRCh38
• Cytoband: 15q23

Target Gene Details

• Entrez Gene ID: 79719
• Gene Name: alpha- and gamma-adaptin binding protein
• Gene Aliases: KPPP1, PPKP1, PPKP1A, p34
• Location: Chr.15:67200675-67255198 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
AAGAB	NM_001271885.1			NP_001258814.1
	AK294402.1
	DC315715.1

Target Gene Details

• Entrez Gene ID: 64799
• Gene Name: IQ motif containing H
• Gene Aliases: NYDSP5
• Location: Chr.15:67254772-67501804 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
IQCH	NM_001031715.2	1	84	NP_001026885.1
	NM_001284347.1	1	84	NP_001271276.1
	NM_001284348.1	1	84	NP_001271277.1
	NM_001284349.1	1	84	NP_001271278.1
	NM_001322470.1	1	84	NP_001309399.1
	NM_001322471.1	1	84	NP_001309400.1
	NM_001322472.1	1	84	NP_001309401.1
	NM_001322473.1	1	84	NP_001309402.1
	NM_001322474.1	1	84	NP_001309403.1
	NM_001322475.1	1	84	NP_001309404.1
	NM_022784.2	1	84	NP_073621.2
	XM_011521907.2	1	108	XP_011520209.1
	XM_011521908.2	1	108	XP_011520210.1
	XM_011521911.2	1	108	XP_011520213.1
	XM_011521912.2	1	108	XP_011520214.1
	XM_011521913.2	1	109	XP_011520215.1
	XM_011521915.2	1	108	XP_011520217.1
	XM_011521918.2			XP_011520220.1
	XM_011521922.2	1	111	XP_011520224.1
	XM_011521923.2	1	112	XP_011520225.1
	XM_017022491.1	1	108	XP_016877980.1
	XM_017022492.1	1	108	XP_016877981.1
	XM_017022493.1	1	108	XP_016877982.1
	XM_017022494.1	1	108	XP_016877983.1
	XM_017022495.1	1	108	XP_016877984.1
	XM_017022496.1	1	108	XP_016877985.1
	XM_017022497.1	1	108	XP_016877986.1
	XM_017022498.1	1	108	XP_016877987.1
	XM_017022499.1	1	108	XP_016877988.1
	XM_017022500.1	1	107	XP_016877989.1
	XM_017022501.1			XP_016877990.1
	XM_017022502.1	1	107	XP_016877991.1
	XM_017022503.1	1	107	XP_016877992.1
	XM_017022504.1	1	107	XP_016877993.1
	AK022538.1			BAB14087.1
	AK292478.1
	AK304303.1
	AY014282.2			AAK27307.2
	BC031041.1			AAH31041.2
	BC039292.1			AAH39292.1
	BC048964.1			AAH48964.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv827371	Chr.15:67254673 - 67255146 on Build GRCh38	Loss	IQCH AAGAB
nsv1049980	Chr.15:67241206 - 67285222 on Build GRCh38	Loss	IQCH AAGAB

More Information

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

Gene Ontology Categories:

Process(es)

protein transport

Function(s)

protein binding