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
dgv8039n54	Chr.22:23323169 - 24601506 on Build GRCh38	Gain	SPECC1L GGT5 C22orf15 DRICH1 PCAT14 RGL4 MMP11 LOC101929374 GSTT2B SUSD2 GUSBP11 LOC100652871 POM121L9P LOC107985555 GSTTP1 LOC107985559 IGLL1 CHCHD10 ADORA2A-AS1 GSTT2 SNRPD3 LOC388882 DERL3 CABIN1 ZNF70 MIF-AS1 VPREB3 LRRC75B GGT1 SLC2A11 DDT ZDHHC8P1 ADORA2A MIF GUCD1 SPECC1L-ADORA2A DDTL UPB1 CES5AP1 SMARCB1
esv2724068	Chr.22:24288741 - 24669870 on Build GRCh38	Deletion	SPECC1L LRRC75B ADORA2A-AS1 GUCD1 SPECC1L-ADORA2A BCRP3 SNRPD3 POM121L10P GGT1 UPB1 ADORA2A
nsv1057819	Chr.22:24290518 - 24624081 on Build GRCh38	Gain	SPECC1L LRRC75B ADORA2A-AS1 GUCD1 SPECC1L-ADORA2A SNRPD3 GGT1 UPB1 ADORA2A
esv2724041	Chr.22:23315914 - 24669376 on Build GRCh38	Deletion	SPECC1L GGT5 C22orf15 DRICH1 PCAT14 RGL4 MMP11 LOC101929374 GSTT2B SUSD2 GUSBP11 LOC100652871 POM121L9P LOC107985555 GSTTP1 LOC107985559 IGLL1 CHCHD10 ADORA2A-AS1 BCRP3 GSTT2 SNRPD3 LOC388882 DERL3 CABIN1 ZNF70 MIF-AS1 VPREB3 LRRC75B GGT1 SLC2A11 DDT ZDHHC8P1 ADORA2A MIF GUCD1 SPECC1L-ADORA2A POM121L10P DDTL BCR UPB1 CES5AP1 SMARCB1
nsv526567	Chr.22:23348138 - 24600663 on Build GRCh38	Gain	SPECC1L GGT5 C22orf15 DRICH1 PCAT14 RGL4 MMP11 LOC101929374 GSTT2B SUSD2 GUSBP11 LOC100652871 POM121L9P LOC107985555 GSTTP1 LOC107985559 IGLL1 CHCHD10 ADORA2A-AS1 GSTT2 SNRPD3 LOC388882 DERL3 CABIN1 ZNF70 MIF-AS1 VPREB3 LRRC75B GGT1 SLC2A11 DDT ZDHHC8P1 ADORA2A MIF GUCD1 SPECC1L-ADORA2A DDTL UPB1 CES5AP1 SMARCB1
nsv1055830	Chr.22:24005071 - 24643213 on Build GRCh38	Gain	SPECC1L GGT5 LRRC75B GGT1 ADORA2A SUSD2 POM121L9P GSTTP1 ADORA2A-AS1 GUCD1 SPECC1L-ADORA2A BCRP3 SNRPD3 UPB1 CABIN1
esv3893463	Chr.22:24009046 - 24601506 on Build GRCh38	Gain	SPECC1L GGT5 LRRC75B GGT1 ADORA2A SUSD2 POM121L9P ADORA2A-AS1 GUCD1 SPECC1L-ADORA2A SNRPD3 UPB1 CABIN1
dgv4528n100	Chr.22:23322244 - 24682765 on Build GRCh38	Gain	SPECC1L GGT5 C22orf15 DRICH1 PCAT14 RGL4 MMP11 LOC101929374 GSTT2B SUSD2 GUSBP11 LOC100652871 POM121L9P LOC107985555 GSTTP1 LOC107985559 IGLL1 CHCHD10 ADORA2A-AS1 BCRP3 GSTT2 SNRPD3 LOC388882 DERL3 CABIN1 ZNF70 MIF-AS1 VPREB3 LRRC75B GGT1 SLC2A11 DDT ZDHHC8P1 ADORA2A MIF GUCD1 SPECC1L-ADORA2A POM121L10P DDTL UPB1 CES5AP1 SMARCB1
esv3568312	Chr.22:24557259 - 24559594 on Build GRCh38	Loss	SNRPD3
nsv588744	Chr.22:24285587 - 24617379 on Build GRCh38	Gain	SPECC1L LRRC75B ADORA2A-AS1 GUCD1 SPECC1L-ADORA2A SNRPD3 GGT1 UPB1 ADORA2A
esv3575443	Chr.22:23348201 - 24670505 on Build GRCh38	Gain	SPECC1L GGT5 C22orf15 DRICH1 PCAT14 RGL4 MMP11 LOC101929374 GSTT2B SUSD2 GUSBP11 LOC100652871 POM121L9P LOC107985555 GSTTP1 LOC107985559 IGLL1 CHCHD10 ADORA2A-AS1 BCRP3 GSTT2 SNRPD3 LOC388882 DERL3 CABIN1 ZNF70 MIF-AS1 VPREB3 LRRC75B GGT1 SLC2A11 DDT ZDHHC8P1 ADORA2A MIF GUCD1 SPECC1L-ADORA2A POM121L10P DDTL UPB1 CES5AP1 SMARCB1
nsv9884	Chr.22:24415625 - 24662249 on Build GRCh38	Gain+Loss	SPECC1L LRRC75B ADORA2A-AS1 GUCD1 SPECC1L-ADORA2A BCRP3 SNRPD3 POM121L10P GGT1 UPB1 ADORA2A

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