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See other SEPT5 CNV Assays ›
Gene Symbol
SEPT5
Assay Reference Genome
Location

Chr.22:19721829 on build GRCh38
Cytoband
22q11.21
Assay ID Hs02581818_cn
Size
Availability Made To Order
Catalog # 4400291
Price
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Assay Details

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 10 - Exon 11
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
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 8 - Exon 9
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
esv3893434 Chr.22:19470889 - 20343372 on Build GRCh38 Gain LOC284865 CLDN5 MIR185 TBX1 SEPT5-GP1BB TANGO2 ZDHHC8 LINC00895 CCDC188 MIR1286 RTN4R TRMT2A C22orf29 DGCR6L GNB1L COMT LOC440792 UFD1L MIR1306 DGCR8 SEPT5 MIR6816 MIR4761 TXNRD2 GP1BB LINC00896 CDC45 RANBP1 LOC101927859 MIR3618 ARVCF
nsv828938 Chr.22:19691069 - 20324465 on Build GRCh38 Gain LOC284865 MIR185 TBX1 SEPT5-GP1BB TANGO2 ZDHHC8 CCDC188 MIR1286 RTN4R TRMT2A C22orf29 DGCR6L GNB1L COMT LOC440792 MIR1306 DGCR8 SEPT5 MIR6816 MIR4761 TXNRD2 GP1BB LINC00896 RANBP1 MIR3618 ARVCF
nsv828943 Chr.22:19720750 - 19797550 on Build GRCh38 Loss GP1BB GNB1L TBX1 SEPT5 SEPT5-GP1BB
esv3647279 Chr.22:19719848 - 19878980 on Build GRCh38 Gain TXNRD2 C22orf29 GP1BB GNB1L TBX1 SEPT5 SEPT5-GP1BB
nsv588216 Chr.22:19086099 - 19839117 on Build GRCh38 Gain CLDN5 CLTCL1 GNB1L UFD1L DGCR2 TBX1 SEPT5 SEPT5-GP1BB TSSK2 MRPL40 GP1BB LINC01311 CDC45 SLC25A1 C22orf39 LINC00895 DGCR14 GSC2 HIRA
nsv834129 Chr.22:19705617 - 19919068 on Build GRCh38 Loss TXNRD2 C22orf29 GP1BB GNB1L TBX1 SEPT5 SEPT5-GP1BB
nsv517478 Chr.22:19703979 - 19817740 on Build GRCh38 Loss GP1BB GNB1L TBX1 SEPT5 SEPT5-GP1BB
dgv725n67 Chr.22:19711970 - 19797426 on Build GRCh38 Gain GP1BB GNB1L TBX1 SEPT5 SEPT5-GP1BB
nsv828939 Chr.22:19696032 - 20324465 on Build GRCh38 Loss LOC284865 MIR185 TBX1 SEPT5-GP1BB TANGO2 ZDHHC8 CCDC188 MIR1286 RTN4R TRMT2A C22orf29 DGCR6L GNB1L COMT LOC440792 MIR1306 DGCR8 SEPT5 MIR6816 MIR4761 TXNRD2 GP1BB LINC00896 RANBP1 MIR3618 ARVCF
nsv953023 Chr.22:19716878 - 19770977 on Build GRCh38 Deletion GP1BB TBX1 SEPT5 SEPT5-GP1BB
nsv834128 Chr.22:19634627 - 19803975 on Build GRCh38 Loss GP1BB GNB1L TBX1 SEPT5 SEPT5-GP1BB
esv2751940 Chr.22:19435727 - 19779259 on Build GRCh38 Gain MRPL40 CLDN5 GP1BB CDC45 UFD1L C22orf39 TBX1 LINC00895 SEPT5 SEPT5-GP1BB
esv3575418 Chr.22:18161776 - 19963846 on Build GRCh38 Gain DGCR5 CLDN5 LOC100996415 PRODH LOC642643 DGCR2 TBX1 SEPT5-GP1BB TSSK2 LOC102725072 MRPL40 DGCR6 LOC100996432 GGT3P LINC01311 SLC25A1 PI4KAP1 LINC00895 HIRA C22orf29 CLTCL1 GNB1L USP18 COMT TMEM191B DGCR9 UFD1L SEPT5 FAM230A RIMBP3 MIR4761 TXNRD2 GP1BB LOC100996401 DGCR10 CDC45 C22orf39 LOC729461 DGCR11 DGCR14 GSC2

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