Hs02836543_cn

• Gene Symbol: SEPT5
• Assay Reference Genome Location: Chr.22:19720515 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 7 - Exon 8

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
	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 5 - Exon 6

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

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