Hs01543439_cn

• Gene Symbol: ABHD14A-ACY1
• Assay Reference Genome Location: Chr.3:51988943 on build GRCh38
• Cytoband: 3p21.2

Target Gene Details

• Entrez Gene ID: 100526760
• Gene Name: ABHD14A-ACY1 readthrough
• Gene Aliases: -
• Location: Chr.3:51975026-51989202 on Build GRCh38
• Assay Gene Location: Within Exon 17

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ABHD14A-ACY1	NM_001316331.1	17	1620	NP_001303260.1
	AK298086.1	17	1596

Target Gene Details

• Entrez Gene ID: 95
• Gene Name: aminoacylase 1
• Gene Aliases: ACY-1, ACY1D, HEL-S-5
• Location: Chr.3:51983284-51989202 on Build GRCh38
• Assay Gene Location: Within Exon 15

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ACY1	NM_000666.2	15	1419	NP_000657.1
	NM_001198895.1	15	1414	NP_001185824.1
	NM_001198896.1	13	1203	NP_001185825.1
	NM_001198897.1	13	1224	NP_001185826.1
	NM_001198898.1	14	1314	NP_001185827.1
	BC000545.2	15	1163	AAH00545.1
	BC003023.1	15	1156	AAH03023.1
	BC014112.2	15	1139	AAH14112.1
	CD014023.1	13	1044
	CD014026.1	13	1065
	CD014027.1	14	1155
	D14524.1	15	1153	BAA03397.1
	D16307.1	15	1151	BAA03814.1
	EU794586.1	15	1139
	KU177890.1	14	1095
	KU177891.1	3	188
	L07548.1	15	1156	AAA02852.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1003453	Chr.3:51928065 - 52065425 on Build GRCh38	Gain	RRP9 DUSP7 ABHD14A-ACY1 ABHD14B RPL29 GPR62 PARP3 PCBP4 ABHD14A ACY1 LINC00696
nsv508922	Chr.3:51940932 - 52009520 on Build GRCh38	Insertion	RRP9 ABHD14A-ACY1 ABHD14B RPL29 GPR62 PARP3 PCBP4 ABHD14A ACY1
nsv954857	Chr.3:51932485 - 52056584 on Build GRCh38	Deletion	RRP9 DUSP7 ABHD14A-ACY1 ABHD14B RPL29 GPR62 PARP3 PCBP4 ABHD14A ACY1
nsv519445	Chr.3:51970301 - 52333916 on Build GRCh38	Gain+Loss	ALAS1 DNAH1 LOC101929054 ABHD14B MIR135A1 MIRLET7G ABHD14A ACY1 DUSP7 ABHD14A-ACY1 TLR9 RPL29 WDR82 POC1A GLYCTK GLYCTK-AS1 PPM1M TWF2 LINC00696
nsv520211	Chr.3:51738331 - 52132131 on Build GRCh38	Gain	RRP9 ABHD14B IQCF5 IQCF5-AS1 GPR62 ABHD14A ACY1 DUSP7 ABHD14A-ACY1 IQCF4 IQCF6 RPL29 POC1A PARP3 IQCF2 IQCF3 IQCF1 PCBP4 LINC00696

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

proteolysis
cellular amino acid metabolic process
xenobiotic metabolic process
peptide catabolic process

Function(s)

aminoacylase activity
protein binding
zinc ion binding
metallodipeptidase activity