Hs02329460_cn

• Gene Symbol: SNRPD3
• Assay Reference Genome Location: Chr.22:24568067 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 Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SNRPD3	NM_001278656.1	3	636	NP_001265585.1
	NM_004175.4	3	650	NP_004166.1
	NR_103819.1
	AB451249.1	2	210
	AB451373.1	2	210
	AK296173.1	3	293
	BC000457.2	3	306	AAH00457.1
	BC003150.1	3	306	AAH03150.1
	BF344644.1	3	645
	BM928709.1	3	598
	BP202359.1
	BY993733.1	3	322
	CN286602.1	3	290
	CR456583.1	3	326	CAG30469.1
	U15009.1	3	297	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	UPB1 GUCD1 GGT1 SPECC1L-ADORA2A BCRP3 LRRC75B POM121L10P SPECC1L SNRPD3 ADORA2A-AS1 ADORA2A
dgv8039n54	Chr.22:23323169 - 24601506 on Build GRCh38	Gain	LRRC75B GUSBP11 C22orf15 GGT5 IGLL1 CABIN1 LOC107985559 DDT GSTTP1 ADORA2A-AS1 ADORA2A GUCD1 GGT1 CES5AP1 LOC107985555 MIF-AS1 POM121L9P PCAT14 VPREB3 SPECC1L SMARCB1 MMP11 DDTL LOC100652871 RGL4 LOC101929374 SPECC1L-ADORA2A DERL3 DRICH1 LOC388882 SUSD2 MIF GSTT2 SLC2A11 ZNF70 UPB1 CHCHD10 GSTT2B ZDHHC8P1 SNRPD3
nsv1057819	Chr.22:24290518 - 24624081 on Build GRCh38	Gain	UPB1 GUCD1 GGT1 SPECC1L-ADORA2A LRRC75B SPECC1L SNRPD3 ADORA2A-AS1 ADORA2A
nsv526567	Chr.22:23348138 - 24600663 on Build GRCh38	Gain	LRRC75B GUSBP11 C22orf15 GGT5 IGLL1 CABIN1 LOC107985559 DDT GSTTP1 ADORA2A-AS1 ADORA2A GUCD1 GGT1 CES5AP1 LOC107985555 MIF-AS1 POM121L9P PCAT14 VPREB3 SPECC1L SMARCB1 MMP11 DDTL LOC100652871 RGL4 LOC101929374 SPECC1L-ADORA2A DERL3 DRICH1 LOC388882 SUSD2 MIF GSTT2 SLC2A11 ZNF70 UPB1 CHCHD10 GSTT2B ZDHHC8P1 SNRPD3
esv2724041	Chr.22:23315914 - 24669376 on Build GRCh38	Deletion	LRRC75B GUSBP11 C22orf15 GGT5 IGLL1 CABIN1 LOC107985559 DDT GSTTP1 ADORA2A-AS1 ADORA2A GUCD1 GGT1 CES5AP1 POM121L10P LOC107985555 MIF-AS1 POM121L9P PCAT14 VPREB3 SPECC1L SMARCB1 MMP11 DDTL LOC100652871 RGL4 LOC101929374 SPECC1L-ADORA2A BCRP3 DERL3 DRICH1 LOC388882 SUSD2 MIF GSTT2 SLC2A11 ZNF70 UPB1 BCR CHCHD10 GSTT2B ZDHHC8P1 SNRPD3
nsv1055830	Chr.22:24005071 - 24643213 on Build GRCh38	Gain	SPECC1L-ADORA2A BCRP3 SUSD2 LRRC75B GGT5 CABIN1 GSTTP1 ADORA2A-AS1 ADORA2A UPB1 GUCD1 GGT1 POM121L9P SPECC1L SNRPD3
esv3893463	Chr.22:24009046 - 24601506 on Build GRCh38	Gain	SPECC1L-ADORA2A SUSD2 LRRC75B GGT5 CABIN1 ADORA2A-AS1 ADORA2A UPB1 GUCD1 GGT1 POM121L9P SPECC1L SNRPD3
dgv4528n100	Chr.22:23322244 - 24682765 on Build GRCh38	Gain	LRRC75B GUSBP11 C22orf15 GGT5 IGLL1 CABIN1 LOC107985559 DDT GSTTP1 ADORA2A-AS1 ADORA2A GUCD1 GGT1 CES5AP1 POM121L10P LOC107985555 MIF-AS1 POM121L9P PCAT14 VPREB3 SPECC1L SMARCB1 MMP11 DDTL LOC100652871 RGL4 LOC101929374 SPECC1L-ADORA2A BCRP3 DERL3 DRICH1 LOC388882 SUSD2 MIF GSTT2 SLC2A11 ZNF70 UPB1 CHCHD10 GSTT2B ZDHHC8P1 SNRPD3
nsv588744	Chr.22:24285587 - 24617379 on Build GRCh38	Gain	UPB1 GUCD1 GGT1 SPECC1L-ADORA2A LRRC75B SPECC1L SNRPD3 ADORA2A-AS1 ADORA2A
nsv9884	Chr.22:24415625 - 24662249 on Build GRCh38	Gain+Loss	UPB1 GUCD1 GGT1 SPECC1L-ADORA2A BCRP3 LRRC75B POM121L10P SPECC1L SNRPD3 ADORA2A-AS1 ADORA2A
esv3575443	Chr.22:23348201 - 24670505 on Build GRCh38	Gain	LRRC75B GUSBP11 C22orf15 GGT5 IGLL1 CABIN1 LOC107985559 DDT GSTTP1 ADORA2A-AS1 ADORA2A GUCD1 GGT1 CES5AP1 POM121L10P LOC107985555 MIF-AS1 POM121L9P PCAT14 VPREB3 SPECC1L SMARCB1 MMP11 DDTL LOC100652871 RGL4 LOC101929374 SPECC1L-ADORA2A BCRP3 DERL3 DRICH1 LOC388882 SUSD2 MIF GSTT2 SLC2A11 ZNF70 UPB1 CHCHD10 GSTT2B ZDHHC8P1 SNRPD3

More Information

• Set Membership: Intragenic, 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