Hs04091040_cn

• Gene Symbol: SEPT5
• Assay Reference Genome Location: Chr.22:19718036 on build GRCh38
• Cytoband: 22q11.21

Target Gene Details

• Entrez Gene ID: 5413
• Gene Name: septin 5
• Gene Aliases: CDCREL, CDCREL-1, CDCREL1, H5, HCDCREL-1, PNUTL1
• Location: Chr.22:19714464-19723322 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SEPT5	NM_002688.5			NP_002679.2
	AK295940.1
	BC025261.1			AAH25261.1
	CR456545.1			CAG30431.1
	KJ534756.1
	KJ534757.1
	U74628.1			AAB93438.1
	U85431.1			AAD00564.1
	Y11593.1			CAA72332.1

Target Gene Details

• Entrez Gene ID: 100526833
• Gene Name: SEPT5-GP1BB readthrough
• Gene Aliases: -
• Location: Chr.22:19717220-19724774 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SEPT5-GP1BB	NR_037611.1	1	817
	AB209168.1	1	817	BAD92405.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv834129	Chr.22:19705617 - 19919068 on Build GRCh38	Loss	GNB1L SEPT5 TXNRD2 C22orf29 SEPT5-GP1BB TBX1 GP1BB
nsv517478	Chr.22:19703979 - 19817740 on Build GRCh38	Loss	GNB1L SEPT5 SEPT5-GP1BB TBX1 GP1BB
esv3893434	Chr.22:19470889 - 20343372 on Build GRCh38	Gain	CDC45 MIR1306 COMT TBX1 TANGO2 UFD1L MIR4761 DGCR6L TXNRD2 MIR1286 C22orf29 SEPT5-GP1BB LOC440792 MIR3618 ZDHHC8 MIR185 CCDC188 LOC284865 RANBP1 LOC101927859 CLDN5 GP1BB LINC00896 DGCR8 GNB1L SEPT5 TRMT2A MIR6816 ARVCF RTN4R LINC00895
dgv725n67	Chr.22:19711970 - 19797426 on Build GRCh38	Gain	GNB1L SEPT5 SEPT5-GP1BB TBX1 GP1BB
nsv828939	Chr.22:19696032 - 20324465 on Build GRCh38	Loss	MIR1306 COMT TBX1 TANGO2 MIR4761 DGCR6L TXNRD2 MIR1286 C22orf29 SEPT5-GP1BB LOC440792 MIR3618 ZDHHC8 MIR185 CCDC188 LOC284865 RANBP1 GP1BB LINC00896 DGCR8 GNB1L SEPT5 TRMT2A MIR6816 ARVCF RTN4R
nsv828938	Chr.22:19691069 - 20324465 on Build GRCh38	Gain	MIR1306 COMT TBX1 TANGO2 MIR4761 DGCR6L TXNRD2 MIR1286 C22orf29 SEPT5-GP1BB LOC440792 MIR3618 ZDHHC8 MIR185 CCDC188 LOC284865 RANBP1 GP1BB LINC00896 DGCR8 GNB1L SEPT5 TRMT2A MIR6816 ARVCF RTN4R
nsv953023	Chr.22:19716878 - 19770977 on Build GRCh38	Deletion	SEPT5 SEPT5-GP1BB TBX1 GP1BB
nsv834128	Chr.22:19634627 - 19803975 on Build GRCh38	Loss	GNB1L SEPT5 SEPT5-GP1BB TBX1 GP1BB
esv2751940	Chr.22:19435727 - 19779259 on Build GRCh38	Gain	CDC45 MRPL40 SEPT5 C22orf39 SEPT5-GP1BB TBX1 CLDN5 GP1BB LINC00895 UFD1L
esv3575418	Chr.22:18161776 - 19963846 on Build GRCh38	Gain	CDC45 FAM230A USP18 DGCR2 COMT LOC102725072 C22orf39 DGCR11 TBX1 UFD1L MIR4761 SLC25A1 RIMBP3 TMEM191B TXNRD2 DGCR5 C22orf29 LOC729461 SEPT5-GP1BB PRODH DGCR6 LINC01311 DGCR9 GGT3P CLDN5 GP1BB DGCR14 GSC2 GNB1L CLTCL1 MRPL40 TSSK2 SEPT5 HIRA LOC100996401 LOC100996432 LOC642643 LOC100996415 PI4KAP1 DGCR10 LINC00895
nsv588216	Chr.22:19086099 - 19839117 on Build GRCh38	Gain	CDC45 LINC01311 DGCR2 C22orf39 TBX1 CLDN5 GP1BB DGCR14 UFD1L SLC25A1 GSC2 GNB1L CLTCL1 MRPL40 TSSK2 SEPT5 HIRA SEPT5-GP1BB LINC00895

More Information

• Set Membership: Intragenic, Exonic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

cytoskeletal protein

Gene Ontology Categories:

Process(es)

cytokinesis
synaptic vesicle targeting
regulation of exocytosis
positive regulation of exocytosis
regulation of synaptic vesicle exocytosis

Function(s)

GTPase activity
structural molecule activity
protein binding
GTP binding
syntaxin binding