Hs02028888_cn

• Gene Symbol: GUCD1
• Assay Reference Genome Location: Chr.22:24555888 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: Overlaps - Exon 1

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

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	239	NP_001265585.1
	NM_004175.4	1	239	NP_004166.1
	NR_103819.1	1	239
	BF344644.1	1	237
	BM928709.1	1	187

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

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