Hs01432870_cn

• Gene Symbol: ABHD12
• Assay Reference Genome Location: Chr.20:25295628 on build GRCh38
• Cytoband: 20p11.21

Target Gene Details

• Entrez Gene ID: 26090
• Gene Name: abhydrolase domain containing 12
• Gene Aliases: ABHD12A, BEM46L2, C20orf22, PHARC, dJ965G21.2
• Location: Chr.20:25294743-25390982 on Build GRCh38
• Assay Gene Location: Within Intron 16

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ABHD12	NM_015600.4			NP_056415.1
	BC014049.2			AAH14049.1

Target Gene Details

• Entrez Gene ID: 5834
• Gene Name: phosphorylase, glycogen; brain
• Gene Aliases: GPBB
• Location: Chr.20:25248070-25298012 on Build GRCh38
• Assay Gene Location: Overlaps Intron 18 - Intron 19

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PYGB	NM_002862.3			NP_002853.2
	AB209080.1			BAD92317.1
	AF432222.1			AAL99928.1
	AK299697.1
	BC017045.2			AAH17045.1
	BC030795.2			AAH30795.1
	J03544.1			AAA59597.1
	U47025.1			AAB60395.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv779e214	Chr.20:25104610 - 25367702 on Build GRCh38	Gain	LOC105372580 ABHD12 LOC101926889 PYGB ENTPD6 LOC284798
nsv522873	Chr.20:23923336 - 26134874 on Build GRCh38	Gain	GINS1 FAM182A SYNDIG1 PYGB LOC101926935 ZNF337-AS1 NCOR1P1 VSX1 LOC105372582 APMAP FAM182B LOC284798 LOC101926955 LOC105372585 GGTLC1 ZNF337 LOC101926889 LOC100134868 FLJ33581 CST7 NINL LOC105372580 ABHD12 NANP ENTPD6 ACSS1 VN1R108P
nsv585746	Chr.20:25090818 - 25489420 on Build GRCh38	Gain	GINS1 NINL LOC105372580 ABHD12 LOC101926889 PYGB ENTPD6 LOC284798
dgv4290n100	Chr.20:25086650 - 25494993 on Build GRCh38	Gain	GINS1 NINL LOC105372580 ABHD12 LOC101926889 PYGB ENTPD6 LOC284798
esv3645582	Chr.20:25284710 - 25318462 on Build GRCh38	Loss	ABHD12 PYGB
nsv833948	Chr.20:25251090 - 25429904 on Build GRCh38	Loss	GINS1 ABHD12 PYGB

More Information

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

Panther Classification:

Molecular Function -

serine protease, glycosyltransferase, transferase, metabolite interconversion enzyme

Gene Ontology Categories:

Process(es)

phosphatidylserine catabolic process
adult walking behavior
response to auditory stimulus
acylglycerol catabolic process
glycogen catabolic process

Function(s)

acylglycerol lipase activity
protein binding
glycogen phosphorylase activity
pyridoxal phosphate binding