Hs00396968_cn

• Gene Symbol: SEPT5
• Assay Reference Genome Location: Chr.22:19721664 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: Overlaps Intron 9 - Exon 10

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SEPT5	NM_001009939.2			NP_001009939.1
	NM_002688.5			NP_002679.2
	AK056273.1			BAB71133.1
	AK295940.1
	BC025261.1			AAH25261.1
	CR456545.1			CAG30431.1
	KJ534756.1
	KJ534757.1
	U74628.1			AAB93438.1
	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: Overlaps Intron 7 - Exon 8

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SEPT5-GP1BB	NR_037611.1
	NR_037612.1
	AB209168.1			BAD92405.1
	U59632.1			AAB93436.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3893434	Chr.22:19470889 - 20343372 on Build GRCh38	Gain	MIR1286 LOC101927859 CLDN5 LINC00896 DGCR6L MIR4761 SEPT5 SEPT5-GP1BB ARVCF C22orf29 GNB1L CDC45 MIR6816 COMT LOC284865 MIR185 CCDC188 MIR3618 LINC00895 RANBP1 MIR1306 ZDHHC8 TANGO2 TRMT2A DGCR8 LOC440792 GP1BB TXNRD2 RTN4R UFD1L TBX1
nsv828938	Chr.22:19691069 - 20324465 on Build GRCh38	Gain	MIR1286 LINC00896 DGCR6L MIR4761 SEPT5 SEPT5-GP1BB ARVCF C22orf29 GNB1L MIR6816 COMT LOC284865 MIR185 CCDC188 MIR3618 RANBP1 MIR1306 ZDHHC8 TANGO2 TRMT2A DGCR8 LOC440792 GP1BB TXNRD2 RTN4R TBX1
nsv828943	Chr.22:19720750 - 19797550 on Build GRCh38	Loss	GNB1L SEPT5 SEPT5-GP1BB GP1BB TBX1
esv3647279	Chr.22:19719848 - 19878980 on Build GRCh38	Gain	GNB1L SEPT5 SEPT5-GP1BB GP1BB TXNRD2 C22orf29 TBX1
nsv588216	Chr.22:19086099 - 19839117 on Build GRCh38	Gain	GNB1L CDC45 C22orf39 CLTCL1 CLDN5 DGCR2 HIRA LINC00895 DGCR14 SLC25A1 GSC2 TSSK2 MRPL40 SEPT5 SEPT5-GP1BB GP1BB LINC01311 UFD1L TBX1
nsv834129	Chr.22:19705617 - 19919068 on Build GRCh38	Loss	GNB1L SEPT5 SEPT5-GP1BB GP1BB TXNRD2 C22orf29 TBX1
nsv517478	Chr.22:19703979 - 19817740 on Build GRCh38	Loss	GNB1L SEPT5 SEPT5-GP1BB GP1BB TBX1
dgv725n67	Chr.22:19711970 - 19797426 on Build GRCh38	Gain	GNB1L SEPT5 SEPT5-GP1BB GP1BB TBX1
nsv828939	Chr.22:19696032 - 20324465 on Build GRCh38	Loss	MIR1286 LINC00896 DGCR6L MIR4761 SEPT5 SEPT5-GP1BB ARVCF C22orf29 GNB1L MIR6816 COMT LOC284865 MIR185 CCDC188 MIR3618 RANBP1 MIR1306 ZDHHC8 TANGO2 TRMT2A DGCR8 LOC440792 GP1BB TXNRD2 RTN4R TBX1
nsv953023	Chr.22:19716878 - 19770977 on Build GRCh38	Deletion	SEPT5 SEPT5-GP1BB GP1BB TBX1
nsv834128	Chr.22:19634627 - 19803975 on Build GRCh38	Loss	GNB1L SEPT5 SEPT5-GP1BB GP1BB TBX1
esv2751940	Chr.22:19435727 - 19779259 on Build GRCh38	Gain	CDC45 C22orf39 MRPL40 SEPT5 CLDN5 SEPT5-GP1BB GP1BB LINC00895 UFD1L TBX1
esv3575418	Chr.22:18161776 - 19963846 on Build GRCh38	Gain	DGCR9 C22orf39 CLTCL1 LOC100996401 DGCR11 CLDN5 HIRA USP18 DGCR14 GSC2 MIR4761 MRPL40 LOC642643 DGCR6 SEPT5 TMEM191B SEPT5-GP1BB LINC01311 C22orf29 PRODH DGCR10 GNB1L CDC45 COMT FAM230A DGCR2 LINC00895 RIMBP3 SLC25A1 DGCR5 LOC102725072 TSSK2 PI4KAP1 LOC100996432 LOC100996415 GGT3P GP1BB TXNRD2 LOC729461 UFD1L TBX1

More Information

• Set Membership: Intragenic, 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