Hs00560684_cn

• Gene Symbol: SNRPD3
• Assay Reference Genome Location: Chr.22:24557810 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: Overlaps Exon 2 - 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	LRRC75B CABIN1 GSTT2 GSTT2B LOC107985559 SMARCB1 LOC107985555 PCAT14 CHCHD10 SPECC1L SLC2A11 DDT MMP11 SUSD2 C22orf15 MIF ZNF70 SNRPD3 GSTTP1 ADORA2A-AS1 GGT1 RGL4 MIF-AS1 IGLL1 ADORA2A GGT5 DRICH1 CES5AP1 LOC101929374 UPB1 GUCD1 ZDHHC8P1 VPREB3 DERL3 LOC100652871 POM121L9P LOC388882 SPECC1L-ADORA2A GUSBP11 DDTL
esv2724068	Chr.22:24288741 - 24669870 on Build GRCh38	Deletion	LRRC75B UPB1 GUCD1 SNRPD3 ADORA2A-AS1 POM121L10P BCRP3 GGT1 SPECC1L SPECC1L-ADORA2A ADORA2A
nsv1057819	Chr.22:24290518 - 24624081 on Build GRCh38	Gain	LRRC75B UPB1 GUCD1 SNRPD3 ADORA2A-AS1 GGT1 SPECC1L SPECC1L-ADORA2A ADORA2A
esv2724041	Chr.22:23315914 - 24669376 on Build GRCh38	Deletion	LRRC75B CABIN1 GSTT2 BCR GSTT2B LOC107985559 SMARCB1 LOC107985555 PCAT14 CHCHD10 POM121L10P SPECC1L SLC2A11 DDT MMP11 SUSD2 C22orf15 MIF ZNF70 SNRPD3 GSTTP1 ADORA2A-AS1 BCRP3 GGT1 RGL4 MIF-AS1 IGLL1 ADORA2A GGT5 DRICH1 CES5AP1 LOC101929374 UPB1 GUCD1 ZDHHC8P1 VPREB3 DERL3 LOC100652871 POM121L9P LOC388882 SPECC1L-ADORA2A GUSBP11 DDTL
nsv526567	Chr.22:23348138 - 24600663 on Build GRCh38	Gain	LRRC75B CABIN1 GSTT2 GSTT2B LOC107985559 SMARCB1 LOC107985555 PCAT14 CHCHD10 SPECC1L SLC2A11 DDT MMP11 SUSD2 C22orf15 MIF ZNF70 SNRPD3 GSTTP1 ADORA2A-AS1 GGT1 RGL4 MIF-AS1 IGLL1 ADORA2A GGT5 DRICH1 CES5AP1 LOC101929374 UPB1 GUCD1 ZDHHC8P1 VPREB3 DERL3 LOC100652871 POM121L9P LOC388882 SPECC1L-ADORA2A GUSBP11 DDTL
nsv1055830	Chr.22:24005071 - 24643213 on Build GRCh38	Gain	LRRC75B CABIN1 SNRPD3 GSTTP1 ADORA2A-AS1 BCRP3 GGT1 ADORA2A GGT5 UPB1 GUCD1 POM121L9P SPECC1L SPECC1L-ADORA2A SUSD2
esv3893463	Chr.22:24009046 - 24601506 on Build GRCh38	Gain	LRRC75B CABIN1 SNRPD3 ADORA2A-AS1 GGT1 ADORA2A GGT5 UPB1 GUCD1 POM121L9P SPECC1L SPECC1L-ADORA2A SUSD2
dgv4528n100	Chr.22:23322244 - 24682765 on Build GRCh38	Gain	LRRC75B CABIN1 GSTT2 GSTT2B LOC107985559 SMARCB1 LOC107985555 PCAT14 CHCHD10 POM121L10P SPECC1L SLC2A11 DDT MMP11 SUSD2 C22orf15 MIF ZNF70 SNRPD3 GSTTP1 ADORA2A-AS1 BCRP3 GGT1 RGL4 MIF-AS1 IGLL1 ADORA2A GGT5 DRICH1 CES5AP1 LOC101929374 UPB1 GUCD1 ZDHHC8P1 VPREB3 DERL3 LOC100652871 POM121L9P LOC388882 SPECC1L-ADORA2A GUSBP11 DDTL
esv3568312	Chr.22:24557259 - 24559594 on Build GRCh38	Loss	SNRPD3
nsv588744	Chr.22:24285587 - 24617379 on Build GRCh38	Gain	LRRC75B UPB1 GUCD1 SNRPD3 ADORA2A-AS1 GGT1 SPECC1L SPECC1L-ADORA2A ADORA2A
esv3575443	Chr.22:23348201 - 24670505 on Build GRCh38	Gain	LRRC75B CABIN1 GSTT2 GSTT2B LOC107985559 SMARCB1 LOC107985555 PCAT14 CHCHD10 POM121L10P SPECC1L SLC2A11 DDT MMP11 SUSD2 C22orf15 MIF ZNF70 SNRPD3 GSTTP1 ADORA2A-AS1 BCRP3 GGT1 RGL4 MIF-AS1 IGLL1 ADORA2A GGT5 DRICH1 CES5AP1 LOC101929374 UPB1 GUCD1 ZDHHC8P1 VPREB3 DERL3 LOC100652871 POM121L9P LOC388882 SPECC1L-ADORA2A GUSBP11 DDTL
nsv9884	Chr.22:24415625 - 24662249 on Build GRCh38	Gain+Loss	LRRC75B UPB1 GUCD1 SNRPD3 ADORA2A-AS1 POM121L10P BCRP3 GGT1 SPECC1L SPECC1L-ADORA2A ADORA2A

More Information

• Set Membership: Intragenic, 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