Hs01717803_cn

• Gene Symbol: SEPT5
• Assay Reference Genome Location: Chr.22:19720342 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 6 - Exon 7

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 4 - Exon 5

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

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