Hs04082202_cn

• Gene Symbol: SNRPD3
• Assay Reference Genome Location: Chr.22:24558290 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	CHCHD10 LRRC75B LOC100652871 PCAT14 POM121L9P SNRPD3 ZNF70 SPECC1L LOC107985555 RGL4 SMARCB1 CES5AP1 DRICH1 ZDHHC8P1 SUSD2 GUSBP11 LOC388882 ADORA2A-AS1 SPECC1L-ADORA2A GSTT2 CABIN1 ADORA2A LOC101929374 UPB1 VPREB3 GUCD1 SLC2A11 C22orf15 GSTT2B GGT5 LOC107985559 GSTTP1 IGLL1 MMP11 GGT1 MIF-AS1 MIF DDTL DDT DERL3
esv2724068	Chr.22:24288741 - 24669870 on Build GRCh38	Deletion	GGT1 LRRC75B GUCD1 POM121L10P SNRPD3 ADORA2A-AS1 SPECC1L BCRP3 SPECC1L-ADORA2A ADORA2A UPB1
nsv1057819	Chr.22:24290518 - 24624081 on Build GRCh38	Gain	GGT1 LRRC75B GUCD1 SNRPD3 ADORA2A-AS1 SPECC1L SPECC1L-ADORA2A ADORA2A UPB1
esv2724041	Chr.22:23315914 - 24669376 on Build GRCh38	Deletion	CHCHD10 LRRC75B LOC100652871 PCAT14 POM121L9P SNRPD3 ZNF70 SPECC1L LOC107985555 RGL4 SMARCB1 CES5AP1 DRICH1 ZDHHC8P1 SUSD2 GUSBP11 LOC388882 ADORA2A-AS1 BCRP3 SPECC1L-ADORA2A GSTT2 CABIN1 ADORA2A LOC101929374 UPB1 VPREB3 GUCD1 SLC2A11 C22orf15 GSTT2B GGT5 LOC107985559 GSTTP1 IGLL1 MMP11 GGT1 POM121L10P MIF-AS1 MIF BCR DDTL DDT DERL3
nsv526567	Chr.22:23348138 - 24600663 on Build GRCh38	Gain	CHCHD10 LRRC75B LOC100652871 PCAT14 POM121L9P SNRPD3 ZNF70 SPECC1L LOC107985555 RGL4 SMARCB1 CES5AP1 DRICH1 ZDHHC8P1 SUSD2 GUSBP11 LOC388882 ADORA2A-AS1 SPECC1L-ADORA2A GSTT2 CABIN1 ADORA2A LOC101929374 UPB1 VPREB3 GUCD1 SLC2A11 C22orf15 GSTT2B GGT5 LOC107985559 GSTTP1 IGLL1 MMP11 GGT1 MIF-AS1 MIF DDTL DDT DERL3
nsv1055830	Chr.22:24005071 - 24643213 on Build GRCh38	Gain	LRRC75B GUCD1 POM121L9P SNRPD3 GGT5 SPECC1L GSTTP1 GGT1 SUSD2 ADORA2A-AS1 BCRP3 SPECC1L-ADORA2A CABIN1 ADORA2A UPB1
esv3893463	Chr.22:24009046 - 24601506 on Build GRCh38	Gain	LRRC75B GUCD1 POM121L9P SNRPD3 GGT5 SPECC1L GGT1 SUSD2 ADORA2A-AS1 SPECC1L-ADORA2A CABIN1 ADORA2A UPB1
dgv4528n100	Chr.22:23322244 - 24682765 on Build GRCh38	Gain	CHCHD10 LRRC75B LOC100652871 PCAT14 POM121L9P SNRPD3 ZNF70 SPECC1L LOC107985555 RGL4 SMARCB1 CES5AP1 DRICH1 ZDHHC8P1 SUSD2 GUSBP11 LOC388882 ADORA2A-AS1 BCRP3 SPECC1L-ADORA2A GSTT2 CABIN1 ADORA2A LOC101929374 UPB1 VPREB3 GUCD1 SLC2A11 C22orf15 GSTT2B GGT5 LOC107985559 GSTTP1 IGLL1 MMP11 GGT1 POM121L10P MIF-AS1 MIF DDTL DDT DERL3
esv3568312	Chr.22:24557259 - 24559594 on Build GRCh38	Loss	SNRPD3
nsv588744	Chr.22:24285587 - 24617379 on Build GRCh38	Gain	GGT1 LRRC75B GUCD1 SNRPD3 ADORA2A-AS1 SPECC1L SPECC1L-ADORA2A ADORA2A UPB1
esv3575443	Chr.22:23348201 - 24670505 on Build GRCh38	Gain	CHCHD10 LRRC75B LOC100652871 PCAT14 POM121L9P SNRPD3 ZNF70 SPECC1L LOC107985555 RGL4 SMARCB1 CES5AP1 DRICH1 ZDHHC8P1 SUSD2 GUSBP11 LOC388882 ADORA2A-AS1 BCRP3 SPECC1L-ADORA2A GSTT2 CABIN1 ADORA2A LOC101929374 UPB1 VPREB3 GUCD1 SLC2A11 C22orf15 GSTT2B GGT5 LOC107985559 GSTTP1 IGLL1 MMP11 GGT1 POM121L10P MIF-AS1 MIF DDTL DDT DERL3
nsv9884	Chr.22:24415625 - 24662249 on Build GRCh38	Gain+Loss	GGT1 LRRC75B GUCD1 POM121L10P SNRPD3 ADORA2A-AS1 SPECC1L BCRP3 SPECC1L-ADORA2A ADORA2A UPB1

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