Hs01831590_cn

• Gene Symbol: GUCD1
• Assay Reference Genome Location: Chr.22:24555762 on build GRCh38
• Cytoband: 22q11.23

Target Gene Details

• Entrez Gene ID: 83606
• Gene Name: guanylyl cyclase domain containing 1
• Gene Aliases: C22orf13, LLN4
• Location: Chr.22:24540423-24555935 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GUCD1	NM_001284251.1	1	174	NP_001271180.1
	NM_001284252.1	1	174	NP_001271181.1
	NM_001284253.1	1	174	NP_001271182.1
	NR_104286.1	1	174
	XM_005261761.1	1	172	XP_005261818.1
	AK098754.1	1	174
	HY059446.1	1	98

Target Gene Details

• Entrez Gene ID: 6634
• Gene Name: small nuclear ribonucleoprotein D3 polypeptide
• Gene Aliases: SMD3, Sm-D3
• Location: Chr.22:24555650-24574964 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SNRPD3	NM_001278656.1	1	113	NP_001265585.1
	NM_004175.4	1	113	NP_004166.1
	NR_103819.1	1	113
	BF344644.1	1	111
	BM928709.1	1	61

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2724068	Chr.22:24288741 - 24669870 on Build GRCh38	Deletion	GUCD1 LRRC75B UPB1 ADORA2A-AS1 BCRP3 SPECC1L-ADORA2A POM121L10P SPECC1L SNRPD3 GGT1 ADORA2A
dgv8039n54	Chr.22:23323169 - 24601506 on Build GRCh38	Gain	ZNF70 CHCHD10 LRRC75B SLC2A11 MIF-AS1 CABIN1 DDT LOC100652871 C22orf15 DDTL MIF GGT1 ADORA2A MMP11 GUCD1 UPB1 SUSD2 LOC101929374 ADORA2A-AS1 DERL3 GSTT2 SMARCB1 LOC388882 LOC107985555 RGL4 LOC107985559 GUSBP11 SPECC1L PCAT14 ZDHHC8P1 DRICH1 POM121L9P GGT5 GSTTP1 GSTT2B SPECC1L-ADORA2A CES5AP1 IGLL1 VPREB3 SNRPD3
nsv1057819	Chr.22:24290518 - 24624081 on Build GRCh38	Gain	GUCD1 LRRC75B UPB1 ADORA2A-AS1 SPECC1L-ADORA2A SPECC1L SNRPD3 GGT1 ADORA2A
nsv526567	Chr.22:23348138 - 24600663 on Build GRCh38	Gain	ZNF70 CHCHD10 LRRC75B SLC2A11 MIF-AS1 CABIN1 DDT LOC100652871 C22orf15 DDTL MIF GGT1 ADORA2A MMP11 GUCD1 UPB1 SUSD2 LOC101929374 ADORA2A-AS1 DERL3 GSTT2 SMARCB1 LOC388882 LOC107985555 RGL4 LOC107985559 GUSBP11 SPECC1L PCAT14 ZDHHC8P1 DRICH1 POM121L9P GGT5 GSTTP1 GSTT2B SPECC1L-ADORA2A CES5AP1 IGLL1 VPREB3 SNRPD3
esv2724041	Chr.22:23315914 - 24669376 on Build GRCh38	Deletion	ZNF70 CHCHD10 LRRC75B SLC2A11 MIF-AS1 CABIN1 BCRP3 DDT LOC100652871 C22orf15 DDTL MIF GGT1 ADORA2A MMP11 GUCD1 UPB1 SUSD2 BCR LOC101929374 ADORA2A-AS1 DERL3 GSTT2 POM121L10P SMARCB1 LOC388882 LOC107985555 RGL4 LOC107985559 GUSBP11 SPECC1L PCAT14 ZDHHC8P1 DRICH1 POM121L9P GGT5 GSTTP1 GSTT2B SPECC1L-ADORA2A CES5AP1 IGLL1 VPREB3 SNRPD3
nsv1055830	Chr.22:24005071 - 24643213 on Build GRCh38	Gain	LRRC75B CABIN1 BCRP3 SPECC1L GGT1 ADORA2A POM121L9P GGT5 GUCD1 UPB1 SUSD2 ADORA2A-AS1 GSTTP1 SPECC1L-ADORA2A SNRPD3
esv3893463	Chr.22:24009046 - 24601506 on Build GRCh38	Gain	LRRC75B CABIN1 SPECC1L GGT1 ADORA2A POM121L9P GGT5 GUCD1 UPB1 SUSD2 ADORA2A-AS1 SPECC1L-ADORA2A SNRPD3
dgv4528n100	Chr.22:23322244 - 24682765 on Build GRCh38	Gain	ZNF70 CHCHD10 LRRC75B SLC2A11 MIF-AS1 CABIN1 BCRP3 DDT LOC100652871 C22orf15 DDTL MIF GGT1 ADORA2A MMP11 GUCD1 UPB1 SUSD2 LOC101929374 ADORA2A-AS1 DERL3 GSTT2 POM121L10P SMARCB1 LOC388882 LOC107985555 RGL4 LOC107985559 GUSBP11 SPECC1L PCAT14 ZDHHC8P1 DRICH1 POM121L9P GGT5 GSTTP1 GSTT2B SPECC1L-ADORA2A CES5AP1 IGLL1 VPREB3 SNRPD3
nsv588744	Chr.22:24285587 - 24617379 on Build GRCh38	Gain	GUCD1 LRRC75B UPB1 ADORA2A-AS1 SPECC1L-ADORA2A SPECC1L SNRPD3 GGT1 ADORA2A
nsv9884	Chr.22:24415625 - 24662249 on Build GRCh38	Gain+Loss	GUCD1 LRRC75B UPB1 ADORA2A-AS1 BCRP3 SPECC1L-ADORA2A POM121L10P SPECC1L SNRPD3 GGT1 ADORA2A
esv3575443	Chr.22:23348201 - 24670505 on Build GRCh38	Gain	ZNF70 CHCHD10 LRRC75B SLC2A11 MIF-AS1 CABIN1 BCRP3 DDT LOC100652871 C22orf15 DDTL MIF GGT1 ADORA2A MMP11 GUCD1 UPB1 SUSD2 LOC101929374 ADORA2A-AS1 DERL3 GSTT2 POM121L10P SMARCB1 LOC388882 LOC107985555 RGL4 LOC107985559 GUSBP11 SPECC1L PCAT14 ZDHHC8P1 DRICH1 POM121L9P GGT5 GSTTP1 GSTT2B SPECC1L-ADORA2A CES5AP1 IGLL1 VPREB3 SNRPD3

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

guanylate cyclase, RNA splicing factor

Gene Ontology Categories:

Process(es)

spliceosomal complex assembly
spliceosomal snRNP assembly
mRNA splicing, via spliceosome
termination of RNA polymerase II transcription
protein methylation
histone mRNA metabolic process
RNA splicing
nuclear import

Function(s)

protein binding
enzyme binding
U2 snRNA binding
poly(A) RNA binding
telomerase RNA binding
histone pre-mRNA DCP binding
U7 snRNA binding