Hs02975167_cn

• Gene Symbol: GNAL
• Assay Reference Genome Location: Chr.18:11884399 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	4747	NP_001135811.1
	NM_001261443.1	13	4549	NP_001248372.1
	NM_001261444.1	8	4267	NP_001248373.1
	NM_182978.3	12	5190	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	1737	NP_001229833.1
	NM_001319154.1	9	1844	NP_001306083.1
	NM_023075.5	11	2033	NP_075563.3
	NR_040241.1	12	2198
	NR_040242.3	13	2066
	NR_040243.1	12	2201
	XM_006722340.3	11	1589	XP_006722403.1
	XM_006722341.3	13	2211	XP_006722404.1
	XM_006722342.3	12	1995	XP_006722405.1
	XM_006722343.3	12	2116	XP_006722406.1
	XM_006722345.3	10	1929	XP_006722408.1
	XM_006722346.2	10	1926	XP_006722409.1
	XM_006722347.3	10	1520	XP_006722410.1
	XM_011525731.2	14	2619	XP_011524033.1
	XM_011525732.1	11	2005	XP_011524034.1
	XM_011525734.1	8	1256	XP_011524036.1
	XM_017025920.1	13	2524	XP_016881409.1
	XM_017025921.1	10	1431	XP_016881410.1
	XM_017025922.1	13	2208	XP_016881411.1
	XM_017025923.1	14	2616	XP_016881412.1
	XM_017025924.1	12	1992	XP_016881413.1
	XM_017025925.1	12	2113	XP_016881414.1
	XM_017025926.1	13	2521	XP_016881415.1
	XM_017025927.1	11	1926	XP_016881416.1
	XM_017025928.1	11	2047	XP_016881417.1
	XM_017025929.1	9	1860	XP_016881418.1
	XM_017025930.1	10	2342	XP_016881419.1
	AF289560.1	12	1719	AAL55744.1
	AF363484.1	11	2035	AAM00279.1
	AK021647.1	7	851	BAB13863.1
	AK023052.1	7	2325	BAB14378.1
	AK054639.1	13	1564
	AK223450.1	10	1406	BAD97170.1
	AL833636.1	9	1396
	AX775853.1	11	1583	CAE11626.1
	BC002877.2	8	1224	AAH02877.1

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	GNAL LOC101927410 SLC35G4 CHMP1B MPPE1 MIR6788 LINC01255 PIEZO2 MIR7153
nsv833590	Chr.18:11757330 - 11924540 on Build GRCh38	Gain	GNAL CHMP1B 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