Hs00560684_cn

• Gene Symbol: SNRPD3
• Assay Reference Genome Location: Chr.22:24557810 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: Overlaps Exon 2 - Intron 2

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
	AB451249.1
	AB451373.1
	AK296173.1
	BC000457.2			AAH00457.1
	BC003150.1			AAH03150.1
	BF344644.1
	BM928709.1
	BP202359.1
	BY993733.1
	CN286602.1
	CR456583.1			CAG30469.1
	U15009.1			AAA57034.1

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	SPECC1L-ADORA2A SNRPD3 GUCD1 ADORA2A-AS1 BCRP3 SPECC1L UPB1 ADORA2A GGT1 POM121L10P LRRC75B
dgv8039n54	Chr.22:23323169 - 24601506 on Build GRCh38	Gain	SPECC1L-ADORA2A SNRPD3 MIF SLC2A11 LOC107985555 GGT5 GSTTP1 CES5AP1 ZNF70 SPECC1L DDTL UPB1 ADORA2A MMP11 LOC388882 GUCD1 ADORA2A-AS1 LOC100652871 SMARCB1 IGLL1 LRRC75B GSTT2 PCAT14 DERL3 VPREB3 CHCHD10 SUSD2 DDT GUSBP11 C22orf15 LOC101929374 GSTT2B ZDHHC8P1 RGL4 CABIN1 MIF-AS1 DRICH1 GGT1 LOC107985559 POM121L9P
nsv1057819	Chr.22:24290518 - 24624081 on Build GRCh38	Gain	SPECC1L-ADORA2A SNRPD3 GUCD1 ADORA2A-AS1 SPECC1L UPB1 ADORA2A GGT1 LRRC75B
nsv526567	Chr.22:23348138 - 24600663 on Build GRCh38	Gain	SPECC1L-ADORA2A SNRPD3 MIF SLC2A11 LOC107985555 GGT5 GSTTP1 CES5AP1 ZNF70 SPECC1L DDTL UPB1 ADORA2A MMP11 LOC388882 GUCD1 ADORA2A-AS1 LOC100652871 SMARCB1 IGLL1 LRRC75B GSTT2 PCAT14 DERL3 VPREB3 CHCHD10 SUSD2 DDT GUSBP11 C22orf15 LOC101929374 GSTT2B ZDHHC8P1 RGL4 CABIN1 MIF-AS1 DRICH1 GGT1 LOC107985559 POM121L9P
esv2724041	Chr.22:23315914 - 24669376 on Build GRCh38	Deletion	SPECC1L-ADORA2A SNRPD3 MIF SLC2A11 LOC107985555 GGT5 GSTTP1 CES5AP1 ZNF70 SPECC1L DDTL UPB1 ADORA2A MMP11 LOC388882 GUCD1 ADORA2A-AS1 LOC100652871 SMARCB1 IGLL1 POM121L10P LRRC75B GSTT2 PCAT14 DERL3 VPREB3 BCR CHCHD10 SUSD2 DDT GUSBP11 BCRP3 C22orf15 LOC101929374 GSTT2B ZDHHC8P1 RGL4 CABIN1 MIF-AS1 DRICH1 GGT1 LOC107985559 POM121L9P
nsv1055830	Chr.22:24005071 - 24643213 on Build GRCh38	Gain	SPECC1L-ADORA2A SNRPD3 GGT5 GSTTP1 SUSD2 SPECC1L UPB1 ADORA2A GUCD1 ADORA2A-AS1 BCRP3 CABIN1 GGT1 LRRC75B POM121L9P
esv3893463	Chr.22:24009046 - 24601506 on Build GRCh38	Gain	SPECC1L-ADORA2A SNRPD3 GGT5 SUSD2 SPECC1L UPB1 ADORA2A GUCD1 ADORA2A-AS1 CABIN1 GGT1 LRRC75B POM121L9P
dgv4528n100	Chr.22:23322244 - 24682765 on Build GRCh38	Gain	SPECC1L-ADORA2A SNRPD3 MIF SLC2A11 LOC107985555 GGT5 GSTTP1 CES5AP1 ZNF70 SPECC1L DDTL UPB1 ADORA2A MMP11 LOC388882 GUCD1 ADORA2A-AS1 LOC100652871 SMARCB1 IGLL1 POM121L10P LRRC75B GSTT2 PCAT14 DERL3 VPREB3 CHCHD10 SUSD2 DDT GUSBP11 BCRP3 C22orf15 LOC101929374 GSTT2B ZDHHC8P1 RGL4 CABIN1 MIF-AS1 DRICH1 GGT1 LOC107985559 POM121L9P
esv3568312	Chr.22:24557259 - 24559594 on Build GRCh38	Loss	SNRPD3
nsv588744	Chr.22:24285587 - 24617379 on Build GRCh38	Gain	SPECC1L-ADORA2A SNRPD3 GUCD1 ADORA2A-AS1 SPECC1L UPB1 ADORA2A GGT1 LRRC75B
nsv9884	Chr.22:24415625 - 24662249 on Build GRCh38	Gain+Loss	SPECC1L-ADORA2A SNRPD3 GUCD1 ADORA2A-AS1 BCRP3 SPECC1L UPB1 ADORA2A GGT1 POM121L10P LRRC75B
esv3575443	Chr.22:23348201 - 24670505 on Build GRCh38	Gain	SPECC1L-ADORA2A SNRPD3 MIF SLC2A11 LOC107985555 GGT5 GSTTP1 CES5AP1 ZNF70 SPECC1L DDTL UPB1 ADORA2A MMP11 LOC388882 GUCD1 ADORA2A-AS1 LOC100652871 SMARCB1 IGLL1 POM121L10P LRRC75B GSTT2 PCAT14 DERL3 VPREB3 CHCHD10 SUSD2 DDT GUSBP11 BCRP3 C22orf15 LOC101929374 GSTT2B ZDHHC8P1 RGL4 CABIN1 MIF-AS1 DRICH1 GGT1 LOC107985559 POM121L9P

More Information

• Set Membership: Intragenic, Non-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