Hs04088233_cn

• Gene Symbol: SEPT5
• Assay Reference Genome Location: Chr.22:19719003 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 3

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
	BI601927.1
	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 Intron 1

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

More Information

• Set Membership: Intragenic, 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