Hs01677372_cn

• Gene Symbol: SNRPD3
• Assay Reference Genome Location: Chr.22:24557708 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 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SNRPD3	NM_001278656.1	2	460	NP_001265585.1
	NM_004175.4	2	474	NP_004166.1
	NR_103819.1	2	474
	AB451249.1
	AB451373.1
	AK296173.1	2	117
	BC000457.2	2	130	AAH00457.1
	BC003150.1	2	130	AAH03150.1
	BF344644.1	2	469
	BM928709.1	2	422
	BP202359.1	2	124
	BY993733.1	2	146
	CN286602.1	2	114
	CR456583.1	2	150	CAG30469.1
	U15009.1	2	121	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	SPECC1L-ADORA2A SLC2A11 DERL3 SUSD2 GUCD1 IGLL1 DDTL ZNF70 UPB1 LOC107985559 ADORA2A-AS1 CHCHD10 PCAT14 SPECC1L CABIN1 LOC107985555 SNRPD3 DRICH1 DDT LOC388882 C22orf15 LOC101929374 GSTT2B CES5AP1 GGT1 RGL4 ADORA2A GUSBP11 GSTTP1 MIF-AS1 VPREB3 GSTT2 LRRC75B POM121L9P MIF GGT5 MMP11 LOC100652871 SMARCB1 ZDHHC8P1
esv2724068	Chr.22:24288741 - 24669870 on Build GRCh38	Deletion	LRRC75B POM121L10P SPECC1L-ADORA2A GGT1 SPECC1L GUCD1 BCRP3 ADORA2A SNRPD3 UPB1 ADORA2A-AS1
nsv1057819	Chr.22:24290518 - 24624081 on Build GRCh38	Gain	LRRC75B SPECC1L-ADORA2A GGT1 SPECC1L GUCD1 ADORA2A SNRPD3 UPB1 ADORA2A-AS1
esv2724041	Chr.22:23315914 - 24669376 on Build GRCh38	Deletion	SPECC1L-ADORA2A SLC2A11 DERL3 SUSD2 GUCD1 IGLL1 BCRP3 DDTL ZNF70 UPB1 LOC107985559 ADORA2A-AS1 CHCHD10 PCAT14 SPECC1L CABIN1 LOC107985555 SNRPD3 DRICH1 DDT LOC388882 C22orf15 LOC101929374 GSTT2B CES5AP1 POM121L10P GGT1 RGL4 ADORA2A GUSBP11 GSTTP1 MIF-AS1 VPREB3 GSTT2 LRRC75B POM121L9P MIF GGT5 MMP11 LOC100652871 BCR SMARCB1 ZDHHC8P1
nsv526567	Chr.22:23348138 - 24600663 on Build GRCh38	Gain	SPECC1L-ADORA2A SLC2A11 DERL3 SUSD2 GUCD1 IGLL1 DDTL ZNF70 UPB1 LOC107985559 ADORA2A-AS1 CHCHD10 PCAT14 SPECC1L CABIN1 LOC107985555 SNRPD3 DRICH1 DDT LOC388882 C22orf15 LOC101929374 GSTT2B CES5AP1 GGT1 RGL4 ADORA2A GUSBP11 GSTTP1 MIF-AS1 VPREB3 GSTT2 LRRC75B POM121L9P MIF GGT5 MMP11 LOC100652871 SMARCB1 ZDHHC8P1
nsv1055830	Chr.22:24005071 - 24643213 on Build GRCh38	Gain	SPECC1L-ADORA2A GGT1 SUSD2 GUCD1 BCRP3 ADORA2A GSTTP1 UPB1 ADORA2A-AS1 LRRC75B SPECC1L CABIN1 POM121L9P GGT5 SNRPD3
esv3893463	Chr.22:24009046 - 24601506 on Build GRCh38	Gain	SPECC1L-ADORA2A GGT1 SUSD2 GUCD1 ADORA2A UPB1 ADORA2A-AS1 LRRC75B SPECC1L CABIN1 POM121L9P GGT5 SNRPD3
dgv4528n100	Chr.22:23322244 - 24682765 on Build GRCh38	Gain	SPECC1L-ADORA2A SLC2A11 DERL3 SUSD2 GUCD1 IGLL1 BCRP3 DDTL ZNF70 UPB1 LOC107985559 ADORA2A-AS1 CHCHD10 PCAT14 SPECC1L CABIN1 LOC107985555 SNRPD3 DRICH1 DDT LOC388882 C22orf15 LOC101929374 GSTT2B CES5AP1 POM121L10P GGT1 RGL4 ADORA2A GUSBP11 GSTTP1 MIF-AS1 VPREB3 GSTT2 LRRC75B POM121L9P MIF GGT5 MMP11 LOC100652871 SMARCB1 ZDHHC8P1
esv3568312	Chr.22:24557259 - 24559594 on Build GRCh38	Loss	SNRPD3
nsv588744	Chr.22:24285587 - 24617379 on Build GRCh38	Gain	LRRC75B SPECC1L-ADORA2A GGT1 SPECC1L GUCD1 ADORA2A SNRPD3 UPB1 ADORA2A-AS1
esv3575443	Chr.22:23348201 - 24670505 on Build GRCh38	Gain	SPECC1L-ADORA2A SLC2A11 DERL3 SUSD2 GUCD1 IGLL1 BCRP3 DDTL ZNF70 UPB1 LOC107985559 ADORA2A-AS1 CHCHD10 PCAT14 SPECC1L CABIN1 LOC107985555 SNRPD3 DRICH1 DDT LOC388882 C22orf15 LOC101929374 GSTT2B CES5AP1 POM121L10P GGT1 RGL4 ADORA2A GUSBP11 GSTTP1 MIF-AS1 VPREB3 GSTT2 LRRC75B POM121L9P MIF GGT5 MMP11 LOC100652871 SMARCB1 ZDHHC8P1
nsv9884	Chr.22:24415625 - 24662249 on Build GRCh38	Gain+Loss	LRRC75B POM121L10P SPECC1L-ADORA2A GGT1 SPECC1L GUCD1 BCRP3 ADORA2A SNRPD3 UPB1 ADORA2A-AS1

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