Hs03048934_cn

• Gene Symbol: SEPT5
• Assay Reference Genome Location: Chr.22:19720163 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 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SEPT5	NM_001009939.2	4	617	NP_001009939.1
	NM_002688.5	5	412	NP_002679.2
	AK056273.1	4	594	BAB71133.1
	AK295940.1	5	281
	BC025261.1	5	376	AAH25261.1
	BI601927.1	4	622
	CR456545.1	5	292	CAG30431.1
	KJ534756.1	5	287
	KJ534757.1
	U74628.1	5	374	AAB93438.1
	U85431.1	5	352	AAD00564.1
	Y11593.1	5	332	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 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SEPT5-GP1BB	NR_037611.1	4	1832
	NR_037612.1	4	336
	AB209168.1	4	1832	BAD92405.1
	U59632.1	4	336	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 C22orf29 GP1BB SEPT5 SEPT5-GP1BB GNB1L TBX1
nsv517478	Chr.22:19703979 - 19817740 on Build GRCh38	Loss	GP1BB SEPT5 SEPT5-GP1BB GNB1L TBX1
esv3893434	Chr.22:19470889 - 20343372 on Build GRCh38	Gain	TXNRD2 RANBP1 C22orf29 TANGO2 MIR1306 MIR185 GP1BB LINC00896 LOC284865 SEPT5 TBX1 RTN4R ZDHHC8 ARVCF CDC45 MIR1286 LOC101927859 LINC00895 SEPT5-GP1BB LOC440792 DGCR6L CCDC188 GNB1L MIR3618 UFD1L MIR4761 COMT DGCR8 CLDN5 MIR6816 TRMT2A
dgv725n67	Chr.22:19711970 - 19797426 on Build GRCh38	Gain	GP1BB SEPT5 SEPT5-GP1BB GNB1L TBX1
nsv828939	Chr.22:19696032 - 20324465 on Build GRCh38	Loss	TXNRD2 RANBP1 C22orf29 TANGO2 MIR1306 MIR185 GP1BB LINC00896 LOC284865 SEPT5 TBX1 RTN4R ZDHHC8 ARVCF MIR1286 SEPT5-GP1BB LOC440792 DGCR6L CCDC188 GNB1L MIR3618 MIR4761 COMT DGCR8 MIR6816 TRMT2A
nsv828938	Chr.22:19691069 - 20324465 on Build GRCh38	Gain	TXNRD2 RANBP1 C22orf29 TANGO2 MIR1306 MIR185 GP1BB LINC00896 LOC284865 SEPT5 TBX1 RTN4R ZDHHC8 ARVCF MIR1286 SEPT5-GP1BB LOC440792 DGCR6L CCDC188 GNB1L MIR3618 MIR4761 COMT DGCR8 MIR6816 TRMT2A
nsv953023	Chr.22:19716878 - 19770977 on Build GRCh38	Deletion	GP1BB SEPT5 SEPT5-GP1BB TBX1
nsv834128	Chr.22:19634627 - 19803975 on Build GRCh38	Loss	GP1BB SEPT5 SEPT5-GP1BB GNB1L TBX1
esv3647279	Chr.22:19719848 - 19878980 on Build GRCh38	Gain	TXNRD2 C22orf29 GP1BB SEPT5 SEPT5-GP1BB GNB1L TBX1
esv2751940	Chr.22:19435727 - 19779259 on Build GRCh38	Gain	CDC45 GP1BB C22orf39 MRPL40 LINC00895 SEPT5 SEPT5-GP1BB CLDN5 TBX1 UFD1L
esv3575418	Chr.22:18161776 - 19963846 on Build GRCh38	Gain	TXNRD2 C22orf29 USP18 LOC100996432 FAM230A SLC25A1 LOC642643 DGCR14 DGCR9 LOC102725072 TMEM191B DGCR6 HIRA GP1BB LOC100996401 LOC729461 DGCR10 SEPT5 TBX1 CLTCL1 CDC45 GGT3P MRPL40 LINC00895 SEPT5-GP1BB RIMBP3 GNB1L UFD1L LOC100996415 DGCR11 DGCR2 MIR4761 C22orf39 GSC2 COMT PI4KAP1 TSSK2 CLDN5 LINC01311 DGCR5 PRODH
nsv588216	Chr.22:19086099 - 19839117 on Build GRCh38	Gain	CLTCL1 CDC45 MRPL40 LINC00895 SLC25A1 SEPT5-GP1BB GNB1L DGCR14 UFD1L DGCR2 HIRA GP1BB C22orf39 GSC2 SEPT5 TSSK2 CLDN5 TBX1 LINC01311

More Information

• 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