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See other TBX1 CNV Assays ›
Gene Symbol
TBX1
Assay Reference Genome
Location

Chr.22:19759606 on build GRCh38
Cytoband
22q11.21
Assay ID Hs02267325_cn
Size
Availability Made To Order
Catalog # 4400291
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Assay Details

Target Gene Details

Entrez Gene ID:

 6899

Gene Name:

 T-box 1

Gene Aliases:

 CAFS, CATCH22, CTHM, DGCR, DGS, DORV, TBX1C, TGA, VCF, VCFS

Location:

 Chr.22:19756703-19783593 on Build GRCh38

Assay Gene Location:

 Within Exon 3
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
TBX1 NM_005992.1 2 92 NP_005983.1
NM_080646.1 2 92 NP_542377.1
NM_080647.1 2 92 NP_542378.1
XM_006724312.2 2 261 XP_006724375.1
XM_017028925.1 1 137 XP_016884414.1
XM_017028926.1 2 227 XP_016884415.1
XM_017028928.1 1 136 XP_016884417.1
AF012130.1 2 92 AAB94018.1
AF012131.1 2 92 AAB94019.1
AF373867.1 2 92 AAK58955.1

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 TANGO2 CCDC188 TBX1 RANBP1 MIR185 DGCR6L GNB1L TRMT2A ZDHHC8 MIR3618 UFD1L TXNRD2 SEPT5-GP1BB CDC45 MIR4761 C22orf29 MIR1306 LOC440792 MIR1286 CLDN5 DGCR8 GP1BB LOC284865 COMT LINC00895 LOC101927859 LINC00896 RTN4R MIR6816 SEPT5 ARVCF
nsv828938 Chr.22:19691069 - 20324465 on Build GRCh38 Gain TANGO2 CCDC188 TBX1 RANBP1 MIR185 DGCR6L GNB1L TRMT2A ZDHHC8 MIR3618 TXNRD2 SEPT5-GP1BB MIR4761 C22orf29 MIR1306 LOC440792 MIR1286 DGCR8 GP1BB LOC284865 COMT LINC00896 RTN4R MIR6816 SEPT5 ARVCF
dgv7982n54 Chr.22:19750832 - 19770876 on Build GRCh38 Loss TBX1
nsv828943 Chr.22:19720750 - 19797550 on Build GRCh38 Loss SEPT5-GP1BB GP1BB TBX1 GNB1L SEPT5
esv3647279 Chr.22:19719848 - 19878980 on Build GRCh38 Gain SEPT5-GP1BB GP1BB TBX1 GNB1L C22orf29 TXNRD2 SEPT5
nsv588216 Chr.22:19086099 - 19839117 on Build GRCh38 Gain CLDN5 SLC25A1 CLTCL1 C22orf39 GP1BB HIRA MRPL40 TBX1 DGCR14 LINC00895 GNB1L UFD1L TSSK2 SEPT5-GP1BB GSC2 LINC01311 CDC45 DGCR2 SEPT5
nsv588231 Chr.22:19743069 - 19760950 on Build GRCh38 Loss TBX1
esv3575428 Chr.22:19732005 - 19767158 on Build GRCh38 Gain TBX1
nsv834129 Chr.22:19705617 - 19919068 on Build GRCh38 Loss SEPT5-GP1BB GP1BB TBX1 GNB1L C22orf29 TXNRD2 SEPT5
nsv517478 Chr.22:19703979 - 19817740 on Build GRCh38 Loss SEPT5-GP1BB GP1BB TBX1 GNB1L SEPT5
dgv725n67 Chr.22:19711970 - 19797426 on Build GRCh38 Gain SEPT5-GP1BB GP1BB TBX1 GNB1L SEPT5
nsv828939 Chr.22:19696032 - 20324465 on Build GRCh38 Loss TANGO2 CCDC188 TBX1 RANBP1 MIR185 DGCR6L GNB1L TRMT2A ZDHHC8 MIR3618 TXNRD2 SEPT5-GP1BB MIR4761 C22orf29 MIR1306 LOC440792 MIR1286 DGCR8 GP1BB LOC284865 COMT LINC00896 RTN4R MIR6816 SEPT5 ARVCF
nsv471181 Chr.22:19729797 - 19815256 on Build GRCh38 Loss TBX1 GNB1L
nsv953023 Chr.22:19716878 - 19770977 on Build GRCh38 Deletion SEPT5-GP1BB GP1BB TBX1 SEPT5
nsv834128 Chr.22:19634627 - 19803975 on Build GRCh38 Loss SEPT5-GP1BB GP1BB TBX1 GNB1L SEPT5
nsv828946 Chr.22:19753679 - 19768165 on Build GRCh38 Gain TBX1
esv2751940 Chr.22:19435727 - 19779259 on Build GRCh38 Gain CLDN5 SEPT5-GP1BB C22orf39 GP1BB MRPL40 CDC45 TBX1 LINC00895 UFD1L SEPT5
esv3575418 Chr.22:18161776 - 19963846 on Build GRCh38 Gain DGCR9 PI4KAP1 DGCR6 TBX1 LOC100996415 TMEM191B GNB1L UFD1L DGCR10 TXNRD2 TSSK2 SEPT5-GP1BB LOC729461 GSC2 LOC100996401 CDC45 DGCR5 MIR4761 C22orf29 PRODH CLDN5 SLC25A1 CLTCL1 C22orf39 GP1BB LOC100996432 HIRA MRPL40 COMT DGCR14 LINC00895 USP18 LOC102725072 DGCR11 LINC01311 LOC642643 DGCR2 RIMBP3 GGT3P FAM230A SEPT5
nsv588235 Chr.22:19757169 - 19762002 on Build GRCh38 Loss TBX1

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More Information


Set Membership:

 Intragenic Exonic DGV Variation

Panther Classification:

Gene Ontology Categories:

Function(s) Process(es)


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