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

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