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

Chr.22:19719849 on build GRCh38
Cytoband
22q11.21
Assay ID Hs00602662_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 4 - Exon 5
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 2 - Exon 3
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 TXNRD2 SEPT5-GP1BB SEPT5 GNB1L GP1BB C22orf29 TBX1
nsv517478 Chr.22:19703979 - 19817740 on Build GRCh38 Loss SEPT5-GP1BB SEPT5 GNB1L GP1BB TBX1
esv3893434 Chr.22:19470889 - 20343372 on Build GRCh38 Gain ARVCF TXNRD2 SEPT5-GP1BB MIR185 MIR1306 DGCR6L GP1BB CCDC188 LINC00895 SEPT5 TRMT2A C22orf29 LOC440792 TANGO2 DGCR8 LINC00896 MIR6816 UFD1L LOC101927859 RTN4R TBX1 CLDN5 CDC45 RANBP1 MIR3618 MIR1286 GNB1L ZDHHC8 COMT MIR4761 LOC284865
dgv725n67 Chr.22:19711970 - 19797426 on Build GRCh38 Gain SEPT5-GP1BB SEPT5 GNB1L GP1BB TBX1
nsv828939 Chr.22:19696032 - 20324465 on Build GRCh38 Loss ARVCF TXNRD2 SEPT5-GP1BB MIR185 MIR1306 DGCR6L GP1BB CCDC188 SEPT5 TRMT2A C22orf29 LOC440792 TANGO2 DGCR8 LINC00896 MIR6816 RTN4R TBX1 RANBP1 MIR3618 MIR1286 GNB1L ZDHHC8 COMT MIR4761 LOC284865
nsv828938 Chr.22:19691069 - 20324465 on Build GRCh38 Gain ARVCF TXNRD2 SEPT5-GP1BB MIR185 MIR1306 DGCR6L GP1BB CCDC188 SEPT5 TRMT2A C22orf29 LOC440792 TANGO2 DGCR8 LINC00896 MIR6816 RTN4R TBX1 RANBP1 MIR3618 MIR1286 GNB1L ZDHHC8 COMT MIR4761 LOC284865
nsv953023 Chr.22:19716878 - 19770977 on Build GRCh38 Deletion SEPT5-GP1BB SEPT5 GP1BB TBX1
nsv834128 Chr.22:19634627 - 19803975 on Build GRCh38 Loss SEPT5-GP1BB SEPT5 GNB1L GP1BB TBX1
esv3647279 Chr.22:19719848 - 19878980 on Build GRCh38 Gain TXNRD2 SEPT5-GP1BB SEPT5 GNB1L GP1BB C22orf29 TBX1
esv2751940 Chr.22:19435727 - 19779259 on Build GRCh38 Gain CLDN5 CDC45 LINC00895 SEPT5-GP1BB SEPT5 GP1BB UFD1L C22orf39 MRPL40 TBX1
esv3575418 Chr.22:18161776 - 19963846 on Build GRCh38 Gain DGCR2 LOC100996415 DGCR5 PRODH TXNRD2 SEPT5-GP1BB HIRA GP1BB LOC729461 MRPL40 DGCR9 GGT3P LOC100996401 LINC00895 SEPT5 LOC642643 LINC01311 C22orf29 USP18 DGCR11 TMEM191B LOC102725072 TSSK2 LOC100996432 CLTCL1 SLC25A1 UFD1L DGCR6 C22orf39 TBX1 CLDN5 PI4KAP1 FAM230A CDC45 GSC2 RIMBP3 DGCR14 DGCR10 GNB1L COMT MIR4761
nsv588216 Chr.22:19086099 - 19839117 on Build GRCh38 Gain DGCR2 TSSK2 SEPT5-GP1BB HIRA CLTCL1 SLC25A1 GP1BB UFD1L C22orf39 MRPL40 TBX1 CLDN5 CDC45 GSC2 DGCR14 LINC00895 SEPT5 GNB1L LINC01311

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