Hs02139253_cn

• Gene Symbol: SNAPC4
• Assay Reference Genome Location: Chr.9:136375672 on build GRCh38
• Cytoband: 9q34.3

Target Gene Details

• Entrez Gene ID: 6621
• Gene Name: small nuclear RNA activating complex polypeptide 4
• Gene Aliases: PTFalpha, SNAP190
• Location: Chr.9:136375571-136400220 on Build GRCh38
• Assay Gene Location: Within Exon 24

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SNAPC4	NM_003086.2	23	4555	NP_003077.2
	XM_005266096.2	24	4646	XP_005266153.1
	XM_006717241.2	24	4630	XP_006717304.1
	XM_006717242.3	24	5559	XP_006717305.1
	XM_006717244.2	9	2997	XP_006717307.1
	XM_017015058.1	23	5991	XP_016870547.1
	AF032387.1	23	4921	AAC02972.1
	AK023513.1	1	1741

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv831760	Chr.9:136366430 - 136480358 on Build GRCh38	Loss	SEC16A SNAPC4 CARD9 INPP5E PMPCA SDCCAG3
nsv509333	Chr.9:136346749 - 136440541 on Build GRCh38	Insertion	SEC16A SNAPC4 CARD9 INPP5E PMPCA GPSM1 DNLZ SDCCAG3
nsv6764	Chr.9:136342675 - 136387661 on Build GRCh38	Deletion	SNAPC4 CARD9 GPSM1 DNLZ
nsv1046074	Chr.9:136228197 - 136393924 on Build GRCh38	Gain	SNAPC4 QSOX2 LOC101928722 DKFZP434A062 CARD9 GPSM1 DNLZ ESP33 CCDC187
nsv469918	Chr.9:136359865 - 137173890 on Build GRCh38	Loss	MIR6722 SEC16A RABL6 MAMDC4 INPP5E LCN12 FBXW5 MIR126 HSPC324 NPDC1 MIR4674 TMEM210 CLIC3 LCN8 EGFL7 NOTCH1 C9orf163 NALT1 SNAPC4 AGPAT2 SNORA17B PHPT1 SDCCAG3 C9orf139 ABCA2 LCNL1 MAN1B1-AS1 LCN6 MIR4292 DNLZ PTGDS MIR3621 CCDC183-AS1 SAPCD2 PRR31 C8G C9orf172 FAM69B LINC01451 DPP7 TMEM141 LCN10 MAN1B1 CCDC183 CARD9 PMPCA ENTPD2 SNHG7 LRRC26 C9orf142 GRIN1 MIR4479 LCN15 TRAF2 LOC100128593 MIR4673 EDF1 SNORA17A FUT7 LOC101930307 UAP1L1
esv2759720	Chr.9:136356377 - 136932033 on Build GRCh38	Loss	MIR6722 SEC16A CCDC183-AS1 RABL6 C9orf172 MAMDC4 INPP5E FAM69B MIR126 HSPC324 LINC01451 TMEM141 MIR4674 LCN10 LCN8 CCDC183 CARD9 PMPCA EGFL7 NOTCH1 SNHG7 C9orf163 NALT1 SNAPC4 AGPAT2 SNORA17B MIR4479 LCN15 TRAF2 PHPT1 SDCCAG3 LOC100128593 MIR4673 LCN6 MIR4292 EDF1 SNORA17A GPSM1 DNLZ
nsv825173	Chr.9:135892081 - 136495763 on Build GRCh38	Gain	SEC16A SNAPC4 LOC107987142 C9orf69 CAMSAP1 LOC101928722 INPP5E ESP33 SDCCAG3 LHX3 LOC105376323 UBAC1 QSOX2 DKFZP434A062 CARD9 PMPCA GPSM1 DNLZ NOTCH1 NACC2 C9orf163 CCDC187
nsv951202	Chr.9:135770355 - 136558248 on Build GRCh38	Deletion	KCNT1 SEC16A C9orf69 INPP5E UBAC1 MIR4674 DKFZP434A062 CARD9 PMPCA NOTCH1 C9orf163 NALT1 SNAPC4 LOC107987142 CAMSAP1 LOC101928722 ESP33 SDCCAG3 LHX3 LOC105376323 MIR4673 QSOX2 GPSM1 DNLZ NACC2 CCDC187

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

regulation of transcription from RNA polymerase II promoter
transcription from RNA polymerase II promoter
transcription from RNA polymerase III promoter
snRNA transcription
cell differentiation
snRNA transcription from RNA polymerase II promoter
snRNA transcription from RNA polymerase III promoter

Function(s)

RNA polymerase II transcription factor activity, sequence-specific DNA binding
transcription factor activity, RNA polymerase II transcription factor recruiting
DNA binding
transcription factor activity, sequence-specific DNA binding
sequence-specific DNA binding
transcription regulatory region DNA binding