Hs04085752_cn

• Gene Symbol: SNRPD3
• Assay Reference Genome Location: Chr.22:24559276 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 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	GGT1 UPB1 SPECC1L ADORA2A-AS1 ADORA2A SPECC1L-ADORA2A BCRP3 SNRPD3 POM121L10P GUCD1 LRRC75B
dgv8039n54	Chr.22:23323169 - 24601506 on Build GRCh38	Gain	ZNF70 SUSD2 PCAT14 LOC100652871 DDT SPECC1L-ADORA2A CES5AP1 MIF GUSBP11 GUCD1 CHCHD10 POM121L9P GSTT2B SLC2A11 UPB1 ADORA2A SNRPD3 LOC107985559 GGT1 DDTL C22orf15 SPECC1L IGLL1 ZDHHC8P1 LOC107985555 LOC101929374 RGL4 MMP11 DERL3 LOC388882 DRICH1 SMARCB1 CABIN1 GSTTP1 VPREB3 ADORA2A-AS1 MIF-AS1 GSTT2 GGT5 LRRC75B
nsv1057819	Chr.22:24290518 - 24624081 on Build GRCh38	Gain	GGT1 UPB1 SPECC1L ADORA2A-AS1 ADORA2A SPECC1L-ADORA2A SNRPD3 GUCD1 LRRC75B
nsv526567	Chr.22:23348138 - 24600663 on Build GRCh38	Gain	ZNF70 SUSD2 PCAT14 LOC100652871 DDT SPECC1L-ADORA2A CES5AP1 MIF GUSBP11 GUCD1 CHCHD10 POM121L9P GSTT2B SLC2A11 UPB1 ADORA2A SNRPD3 LOC107985559 GGT1 DDTL C22orf15 SPECC1L IGLL1 ZDHHC8P1 LOC107985555 LOC101929374 RGL4 MMP11 DERL3 LOC388882 DRICH1 SMARCB1 CABIN1 GSTTP1 VPREB3 ADORA2A-AS1 MIF-AS1 GSTT2 GGT5 LRRC75B
esv2724041	Chr.22:23315914 - 24669376 on Build GRCh38	Deletion	ZNF70 SUSD2 PCAT14 LOC100652871 DDT SPECC1L-ADORA2A CES5AP1 MIF GUSBP11 GUCD1 CHCHD10 POM121L9P GSTT2B SLC2A11 UPB1 BCR ADORA2A SNRPD3 LOC107985559 GGT1 DDTL C22orf15 SPECC1L IGLL1 ZDHHC8P1 LOC107985555 LOC101929374 BCRP3 RGL4 MMP11 DERL3 LOC388882 DRICH1 SMARCB1 CABIN1 GSTTP1 VPREB3 ADORA2A-AS1 MIF-AS1 GSTT2 GGT5 POM121L10P LRRC75B
nsv1055830	Chr.22:24005071 - 24643213 on Build GRCh38	Gain	GGT1 SUSD2 SPECC1L SPECC1L-ADORA2A BCRP3 GUCD1 POM121L9P CABIN1 UPB1 GSTTP1 ADORA2A-AS1 ADORA2A GGT5 SNRPD3 LRRC75B
esv3893463	Chr.22:24009046 - 24601506 on Build GRCh38	Gain	GGT1 SUSD2 SPECC1L SPECC1L-ADORA2A GUCD1 POM121L9P CABIN1 UPB1 ADORA2A-AS1 ADORA2A GGT5 SNRPD3 LRRC75B
dgv4528n100	Chr.22:23322244 - 24682765 on Build GRCh38	Gain	ZNF70 SUSD2 PCAT14 LOC100652871 DDT SPECC1L-ADORA2A CES5AP1 MIF GUSBP11 GUCD1 CHCHD10 POM121L9P GSTT2B SLC2A11 UPB1 ADORA2A SNRPD3 LOC107985559 GGT1 DDTL C22orf15 SPECC1L IGLL1 ZDHHC8P1 LOC107985555 LOC101929374 BCRP3 RGL4 MMP11 DERL3 LOC388882 DRICH1 SMARCB1 CABIN1 GSTTP1 VPREB3 ADORA2A-AS1 MIF-AS1 GSTT2 GGT5 POM121L10P LRRC75B
esv3568312	Chr.22:24557259 - 24559594 on Build GRCh38	Loss	SNRPD3
nsv588744	Chr.22:24285587 - 24617379 on Build GRCh38	Gain	GGT1 UPB1 SPECC1L ADORA2A-AS1 ADORA2A SPECC1L-ADORA2A SNRPD3 GUCD1 LRRC75B
nsv9884	Chr.22:24415625 - 24662249 on Build GRCh38	Gain+Loss	GGT1 UPB1 SPECC1L ADORA2A-AS1 ADORA2A SPECC1L-ADORA2A BCRP3 SNRPD3 POM121L10P GUCD1 LRRC75B
esv3575443	Chr.22:23348201 - 24670505 on Build GRCh38	Gain	ZNF70 SUSD2 PCAT14 LOC100652871 DDT SPECC1L-ADORA2A CES5AP1 MIF GUSBP11 GUCD1 CHCHD10 POM121L9P GSTT2B SLC2A11 UPB1 ADORA2A SNRPD3 LOC107985559 GGT1 DDTL C22orf15 SPECC1L IGLL1 ZDHHC8P1 LOC107985555 LOC101929374 BCRP3 RGL4 MMP11 DERL3 LOC388882 DRICH1 SMARCB1 CABIN1 GSTTP1 VPREB3 ADORA2A-AS1 MIF-AS1 GSTT2 GGT5 POM121L10P LRRC75B

More Information

• Set Membership: Intragenic, Intronic, 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