Hs01609661_cn

• Gene Symbol: GNAL
• Assay Reference Genome Location: Chr.18:11884061 on build GRCh38
• Cytoband: 18p11.21

Target Gene Details

• Entrez Gene ID: 2774
• Gene Name: G protein subunit alpha L
• Gene Aliases: DYT25
• Location: Chr.18:11688956-11885685 on Build GRCh38
• Assay Gene Location: Within Exon 16

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GNAL	NM_001142339.2	13	4409	NP_001135811.1
	NM_001261443.1	13	4211	NP_001248372.1
	NM_001261444.1	8	3929	NP_001248373.1
	NM_182978.3	12	4852	NP_892023.1

Target Gene Details

• Entrez Gene ID: 65258
• Gene Name: metallophosphoesterase 1
• Gene Aliases: PGAP5
• Location: Chr.18:11883471-11908797 on Build GRCh38
• Assay Gene Location: Within Exon 16

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MPPE1	NM_001242904.1	8	2075	NP_001229833.1
	NM_001319154.1	9	2182	NP_001306083.1
	NM_023075.5	11	2371	NP_075563.3
	NR_040241.1	12	2536
	NR_040242.3	13	2404
	NR_040243.1	12	2539
	XM_006722340.3			XP_006722403.1
	XM_006722341.3			XP_006722404.1
	XM_006722342.3			XP_006722405.1
	XM_006722343.3			XP_006722406.1
	XM_006722345.3			XP_006722408.1
	XM_006722346.2			XP_006722409.1
	XM_006722347.3			XP_006722410.1
	XM_011525731.2			XP_011524033.1
	XM_011525732.1			XP_011524034.1
	XM_011525734.1			XP_011524036.1
	XM_017025920.1			XP_016881409.1
	XM_017025921.1			XP_016881410.1
	XM_017025922.1			XP_016881411.1
	XM_017025923.1			XP_016881412.1
	XM_017025924.1			XP_016881413.1
	XM_017025925.1			XP_016881414.1
	XM_017025926.1			XP_016881415.1
	XM_017025927.1			XP_016881416.1
	XM_017025928.1			XP_016881417.1
	XM_017025929.1			XP_016881418.1
	XM_017025930.1			XP_016881419.1
	AF289560.1	12	2057	AAL55744.1
	AF363484.1			AAM00279.1
	AK021647.1	7	1189	BAB13863.1
	AK054639.1
	AL536593.3	1	741
	AL833636.1	9	1734
	AX775853.1			CAE11626.1
	BC002877.2			AAH02877.1
	CR738004.1	1	210

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1057995	Chr.18:10626172 - 11923368 on Build GRCh38	Gain	CHMP1B LINC01255 GNAL LOC101927410 PIEZO2 MIR7153 MIR6788 SLC35G4 MPPE1
nsv833590	Chr.18:11757330 - 11924540 on Build GRCh38	Gain	CHMP1B GNAL MPPE1

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

heterotrimeric G-protein, esterase

Gene Ontology Categories:

Process(es)

signal transduction
adenylate cyclase-activating G-protein coupled receptor signaling pathway
activation of adenylate cyclase activity
adenylate cyclase-activating dopamine receptor signaling pathway
adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway
sensory perception of smell
GPI anchor biosynthetic process
ER to Golgi vesicle-mediated transport

Function(s)

GTPase activity
signal transducer activity
GTP binding
G-protein beta/gamma-subunit complex binding
metal ion binding
protein binding
phosphoric diester hydrolase activity
manganese ion binding
GPI anchor binding