Hs04087140_cn

• Gene Symbol: SEPT5
• Assay Reference Genome Location: Chr.22:19717462 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	243
	AB209168.1	1	243	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	SEPT5-GP1BB SEPT5 TBX1 GP1BB TXNRD2 GNB1L C22orf29
nsv517478	Chr.22:19703979 - 19817740 on Build GRCh38	Loss	SEPT5-GP1BB SEPT5 TBX1 GP1BB GNB1L
esv3893434	Chr.22:19470889 - 20343372 on Build GRCh38	Gain	TANGO2 TBX1 LOC101927859 MIR4761 MIR3618 GNB1L COMT DGCR6L C22orf29 SEPT5-GP1BB MIR1306 LOC440792 TRMT2A MIR185 RANBP1 GP1BB ZDHHC8 CCDC188 CLDN5 RTN4R DGCR8 MIR1286 LINC00896 SEPT5 UFD1L MIR6816 LOC284865 LINC00895 TXNRD2 CDC45 ARVCF
dgv725n67	Chr.22:19711970 - 19797426 on Build GRCh38	Gain	SEPT5-GP1BB SEPT5 TBX1 GP1BB GNB1L
nsv828939	Chr.22:19696032 - 20324465 on Build GRCh38	Loss	TANGO2 TBX1 MIR4761 MIR3618 GNB1L COMT DGCR6L C22orf29 SEPT5-GP1BB MIR1306 LOC440792 TRMT2A MIR185 RANBP1 GP1BB ZDHHC8 CCDC188 RTN4R DGCR8 MIR1286 LINC00896 SEPT5 MIR6816 LOC284865 TXNRD2 ARVCF
nsv828938	Chr.22:19691069 - 20324465 on Build GRCh38	Gain	TANGO2 TBX1 MIR4761 MIR3618 GNB1L COMT DGCR6L C22orf29 SEPT5-GP1BB MIR1306 LOC440792 TRMT2A MIR185 RANBP1 GP1BB ZDHHC8 CCDC188 RTN4R DGCR8 MIR1286 LINC00896 SEPT5 MIR6816 LOC284865 TXNRD2 ARVCF
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 SEPT5 TBX1 GP1BB GNB1L
esv2751940	Chr.22:19435727 - 19779259 on Build GRCh38	Gain	SEPT5-GP1BB SEPT5 UFD1L CLDN5 TBX1 MRPL40 GP1BB LINC00895 C22orf39 CDC45
esv3575418	Chr.22:18161776 - 19963846 on Build GRCh38	Gain	LOC100996401 PI4KAP1 LOC100996415 DGCR6 TBX1 MIR4761 GNB1L COMT TSSK2 DGCR11 C22orf29 HIRA SEPT5-GP1BB MRPL40 GP1BB FAM230A LOC642643 C22orf39 DGCR5 DGCR2 CLDN5 PRODH LOC100996432 RIMBP3 DGCR10 SEPT5 UFD1L LOC729461 USP18 DGCR14 CLTCL1 SLC25A1 GSC2 LINC00895 TXNRD2 GGT3P LINC01311 CDC45 TMEM191B LOC102725072 DGCR9
nsv588216	Chr.22:19086099 - 19839117 on Build GRCh38	Gain	DGCR2 CLDN5 TBX1 GNB1L TSSK2 HIRA SEPT5-GP1BB SEPT5 UFD1L DGCR14 CLTCL1 SLC25A1 GSC2 MRPL40 GP1BB LINC00895 C22orf39 LINC01311 CDC45

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