Hs04078137_cn

• Gene Symbol: SEPT5
• Assay Reference Genome Location: Chr.22:19718628 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 Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SEPT5	NM_001009939.2	1	194	NP_001009939.1
	NM_002688.5			NP_002679.2
	AK056273.1	1	171	BAB71133.1
	AK295940.1
	BC025261.1			AAH25261.1
	BI601927.1	1	199
	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	1409
	NR_037612.1
	AB209168.1	1	1409	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	C22orf29 TBX1 SEPT5 GNB1L TXNRD2 SEPT5-GP1BB GP1BB
nsv517478	Chr.22:19703979 - 19817740 on Build GRCh38	Loss	TBX1 SEPT5 GNB1L SEPT5-GP1BB GP1BB
esv3893434	Chr.22:19470889 - 20343372 on Build GRCh38	Gain	RANBP1 TBX1 ARVCF RTN4R MIR3618 SEPT5 LINC00895 TXNRD2 LINC00896 DGCR8 LOC440792 TRMT2A C22orf29 CDC45 GNB1L UFD1L MIR1286 TANGO2 DGCR6L MIR185 LOC284865 CCDC188 SEPT5-GP1BB ZDHHC8 GP1BB MIR6816 MIR4761 CLDN5 LOC101927859 MIR1306 COMT
dgv725n67	Chr.22:19711970 - 19797426 on Build GRCh38	Gain	TBX1 SEPT5 GNB1L SEPT5-GP1BB GP1BB
nsv828939	Chr.22:19696032 - 20324465 on Build GRCh38	Loss	RANBP1 TBX1 ARVCF RTN4R MIR3618 SEPT5 TXNRD2 LINC00896 DGCR8 LOC440792 TRMT2A C22orf29 GNB1L MIR1286 TANGO2 DGCR6L MIR185 LOC284865 CCDC188 SEPT5-GP1BB ZDHHC8 GP1BB MIR6816 MIR4761 MIR1306 COMT
nsv828938	Chr.22:19691069 - 20324465 on Build GRCh38	Gain	RANBP1 TBX1 ARVCF RTN4R MIR3618 SEPT5 TXNRD2 LINC00896 DGCR8 LOC440792 TRMT2A C22orf29 GNB1L MIR1286 TANGO2 DGCR6L MIR185 LOC284865 CCDC188 SEPT5-GP1BB ZDHHC8 GP1BB MIR6816 MIR4761 MIR1306 COMT
nsv953023	Chr.22:19716878 - 19770977 on Build GRCh38	Deletion	TBX1 SEPT5 SEPT5-GP1BB GP1BB
nsv834128	Chr.22:19634627 - 19803975 on Build GRCh38	Loss	TBX1 SEPT5 GNB1L SEPT5-GP1BB GP1BB
esv2751940	Chr.22:19435727 - 19779259 on Build GRCh38	Gain	CDC45 MRPL40 TBX1 SEPT5 LINC00895 UFD1L C22orf39 SEPT5-GP1BB GP1BB CLDN5
esv3575418	Chr.22:18161776 - 19963846 on Build GRCh38	Gain	LOC102725072 TBX1 PRODH RIMBP3 SEPT5 LINC00895 TXNRD2 LOC642643 CLTCL1 DGCR14 C22orf29 CDC45 TSSK2 GNB1L UFD1L USP18 DGCR11 DGCR9 GGT3P FAM230A DGCR2 LOC100996401 DGCR10 GSC2 PI4KAP1 SEPT5-GP1BB DGCR6 GP1BB HIRA MIR4761 CLDN5 MRPL40 LOC100996432 LOC100996415 C22orf39 LOC729461 DGCR5 COMT TMEM191B SLC25A1 LINC01311
nsv588216	Chr.22:19086099 - 19839117 on Build GRCh38	Gain	DGCR2 TBX1 SEPT5 GSC2 LINC00895 SEPT5-GP1BB GP1BB HIRA CLTCL1 CLDN5 DGCR14 CDC45 MRPL40 TSSK2 GNB1L UFD1L C22orf39 SLC25A1 LINC01311

More Information

Additional Information:

For this assay, SNP(s) [rs73377941] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• Set Membership: Intragenic, 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