Hs01438234_cn

• Gene Symbol: SEPT5
• Assay Reference Genome Location: Chr.22:19719608 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 3 - Exon 4

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: Overlaps Intron 1 - Exon 2

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

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