Hs02329460_cn

• Gene Symbol: SNRPD3
• Assay Reference Genome Location: Chr.22:24568067 on build GRCh38
• Cytoband: 22q11.23

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 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SNRPD3	NM_001278656.1	3	636	NP_001265585.1
	NM_004175.4	3	650	NP_004166.1
	NR_103819.1
	AB451249.1	2	210
	AB451373.1	2	210
	AK296173.1	3	293
	BC000457.2	3	306	AAH00457.1
	BC003150.1	3	306	AAH03150.1
	BF344644.1	3	645
	BM928709.1	3	598
	BP202359.1
	BY993733.1	3	322
	CN286602.1	3	290
	CR456583.1	3	326	CAG30469.1
	U15009.1	3	297	AAA57034.1

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

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

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