Hs01269745_cn

• Gene Symbol: SNRPD3
• Assay Reference Genome Location: Chr.22:24572409 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 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SNRPD3	NM_001278656.1	4	1239	NP_001265585.1
	NM_004175.4	4	1253	NP_004166.1
	NR_103819.1	3	1060
	AK296173.1

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

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