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

Chr.22:19771980 on build GRCh38
Cytoband
22q11.21
Assay ID Hs04088191_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 Intron 10
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
TBX1 NM_005992.1 NP_005983.1
NM_080646.1 NP_542377.1
XM_017028928.1 XP_016884417.1
AF012130.1 AAB94018.1
AF012131.1 AAB94019.1

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 MIR6816 SEPT5 LINC00895 LINC00896 COMT TRMT2A CCDC188 RTN4R GNB1L ZDHHC8 RANBP1 DGCR6L TBX1 CDC45 LOC101927859 ARVCF MIR185 C22orf29 UFD1L DGCR8 CLDN5 TANGO2 MIR3618 MIR1286 MIR4761 GP1BB TXNRD2 SEPT5-GP1BB MIR1306 LOC440792
nsv828938 Chr.22:19691069 - 20324465 on Build GRCh38 Gain LOC284865 MIR6816 SEPT5 LINC00896 COMT TRMT2A CCDC188 RTN4R GNB1L ZDHHC8 RANBP1 DGCR6L TBX1 ARVCF MIR185 C22orf29 DGCR8 TANGO2 MIR3618 MIR1286 MIR4761 GP1BB TXNRD2 SEPT5-GP1BB MIR1306 LOC440792
nsv828943 Chr.22:19720750 - 19797550 on Build GRCh38 Loss SEPT5 GP1BB GNB1L TBX1 SEPT5-GP1BB
esv3647279 Chr.22:19719848 - 19878980 on Build GRCh38 Gain C22orf29 SEPT5 GP1BB GNB1L TXNRD2 TBX1 SEPT5-GP1BB
dgv7983n54 Chr.22:19762002 - 20321870 on Build GRCh38 Gain LOC284865 ARVCF MIR185 MIR6816 C22orf29 LINC00896 DGCR8 COMT TANGO2 TRMT2A MIR3618 MIR1286 CCDC188 RTN4R MIR4761 GNB1L ZDHHC8 TXNRD2 RANBP1 DGCR6L TBX1 MIR1306 LOC440792
nsv588216 Chr.22:19086099 - 19839117 on Build GRCh38 Gain TSSK2 DGCR14 C22orf39 UFD1L CLTCL1 SEPT5 LINC00895 LINC01311 SLC25A1 CLDN5 MRPL40 GSC2 GP1BB GNB1L DGCR2 HIRA TBX1 SEPT5-GP1BB CDC45
nsv834129 Chr.22:19705617 - 19919068 on Build GRCh38 Loss C22orf29 SEPT5 GP1BB GNB1L TXNRD2 TBX1 SEPT5-GP1BB
nsv517478 Chr.22:19703979 - 19817740 on Build GRCh38 Loss SEPT5 GP1BB GNB1L TBX1 SEPT5-GP1BB
dgv725n67 Chr.22:19711970 - 19797426 on Build GRCh38 Gain SEPT5 GP1BB GNB1L TBX1 SEPT5-GP1BB
nsv828939 Chr.22:19696032 - 20324465 on Build GRCh38 Loss LOC284865 MIR6816 SEPT5 LINC00896 COMT TRMT2A CCDC188 RTN4R GNB1L ZDHHC8 RANBP1 DGCR6L TBX1 ARVCF MIR185 C22orf29 DGCR8 TANGO2 MIR3618 MIR1286 MIR4761 GP1BB TXNRD2 SEPT5-GP1BB MIR1306 LOC440792
nsv471181 Chr.22:19729797 - 19815256 on Build GRCh38 Loss GNB1L TBX1
nsv834128 Chr.22:19634627 - 19803975 on Build GRCh38 Loss SEPT5 GP1BB GNB1L TBX1 SEPT5-GP1BB
esv2751940 Chr.22:19435727 - 19779259 on Build GRCh38 Gain C22orf39 UFD1L MRPL40 SEPT5 LINC00895 GP1BB TBX1 SEPT5-GP1BB CDC45 CLDN5
esv3575418 Chr.22:18161776 - 19963846 on Build GRCh38 Gain LOC642643 CLTCL1 SEPT5 LINC00895 LOC100996401 COMT PRODH LOC100996432 LOC102725072 USP18 TMEM191B MRPL40 GSC2 GNB1L DGCR2 LOC100996415 HIRA FAM230A TBX1 CDC45 GGT3P RIMBP3 TSSK2 DGCR14 C22orf39 DGCR11 LOC729461 DGCR5 PI4KAP1 C22orf29 UFD1L LINC01311 DGCR10 SLC25A1 CLDN5 DGCR6 MIR4761 GP1BB TXNRD2 DGCR9 SEPT5-GP1BB

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More Information


Set Membership:

 Intragenic Intronic Non-exonic DGV Variation

Panther Classification:

Gene Ontology Categories:

Function(s) Process(es)


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