Hs00790507_cn

• Gene Symbol: GUCD1
• Assay Reference Genome Location: Chr.22:24555677 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	259	NP_001271180.1
	NM_001284252.1	1	259	NP_001271181.1
	NM_001284253.1	1	259	NP_001271182.1
	NR_104286.1	1	259
	XM_005261761.1	1	257	XP_005261818.1
	AK098754.1	1	259
	DA033557.1
	HY059446.1	1	183

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: Overlaps - Exon 1

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

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

More Information

• Set Membership: Intragenic, Exonic, Non-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