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

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