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

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