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

Chr.22:19782584 on build GRCh38
Cytoband
22q11.21
Assay ID Hs04084413_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 11
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
TBX1 NM_005992.1 NP_005983.1
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 MIR1306 SEPT5 UFD1L COMT LINC00896 MIR3618 ZDHHC8 CDC45 LOC440792 GNB1L LOC284865 LINC00895 DGCR6L C22orf29 LOC101927859 MIR4761 MIR6816 CLDN5 TANGO2 SEPT5-GP1BB DGCR8 ARVCF TBX1 CCDC188 RANBP1 MIR185 MIR1286 RTN4R TXNRD2 GP1BB TRMT2A
nsv828938 Chr.22:19691069 - 20324465 on Build GRCh38 Gain MIR1306 SEPT5 COMT LINC00896 MIR3618 ZDHHC8 LOC440792 GNB1L LOC284865 DGCR6L C22orf29 MIR4761 MIR6816 TANGO2 SEPT5-GP1BB DGCR8 ARVCF TBX1 CCDC188 RANBP1 MIR185 MIR1286 RTN4R TXNRD2 GP1BB TRMT2A
esv3568260 Chr.22:19777375 - 19881883 on Build GRCh38 Loss TXNRD2 TBX1 C22orf29 GNB1L
nsv828943 Chr.22:19720750 - 19797550 on Build GRCh38 Loss SEPT5 SEPT5-GP1BB GP1BB TBX1 GNB1L
esv3647279 Chr.22:19719848 - 19878980 on Build GRCh38 Gain SEPT5 SEPT5-GP1BB TXNRD2 GP1BB TBX1 C22orf29 GNB1L
dgv7983n54 Chr.22:19762002 - 20321870 on Build GRCh38 Gain MIR6816 MIR1306 TANGO2 COMT LINC00896 MIR3618 DGCR8 ZDHHC8 ARVCF LOC440792 TBX1 CCDC188 GNB1L RANBP1 MIR185 MIR1286 LOC284865 RTN4R TXNRD2 DGCR6L TRMT2A C22orf29 MIR4761
nsv588216 Chr.22:19086099 - 19839117 on Build GRCh38 Gain CLDN5 CLTCL1 SEPT5 UFD1L TSSK2 SEPT5-GP1BB DGCR14 SLC25A1 CDC45 HIRA TBX1 GNB1L GSC2 LINC01311 DGCR2 LINC00895 GP1BB MRPL40 C22orf39
nsv834129 Chr.22:19705617 - 19919068 on Build GRCh38 Loss SEPT5 SEPT5-GP1BB TXNRD2 GP1BB TBX1 C22orf29 GNB1L
nsv517478 Chr.22:19703979 - 19817740 on Build GRCh38 Loss SEPT5 SEPT5-GP1BB GP1BB TBX1 GNB1L
dgv725n67 Chr.22:19711970 - 19797426 on Build GRCh38 Gain SEPT5 SEPT5-GP1BB GP1BB TBX1 GNB1L
nsv828939 Chr.22:19696032 - 20324465 on Build GRCh38 Loss MIR1306 SEPT5 COMT LINC00896 MIR3618 ZDHHC8 LOC440792 GNB1L LOC284865 DGCR6L C22orf29 MIR4761 MIR6816 TANGO2 SEPT5-GP1BB DGCR8 ARVCF TBX1 CCDC188 RANBP1 MIR185 MIR1286 RTN4R TXNRD2 GP1BB TRMT2A
nsv471181 Chr.22:19729797 - 19815256 on Build GRCh38 Loss TBX1 GNB1L
nsv834128 Chr.22:19634627 - 19803975 on Build GRCh38 Loss SEPT5 SEPT5-GP1BB GP1BB TBX1 GNB1L
esv3575418 Chr.22:18161776 - 19963846 on Build GRCh38 Gain DGCR9 CLTCL1 SEPT5 UFD1L COMT RIMBP3 DGCR14 CDC45 LOC102725072 GNB1L USP18 PI4KAP1 TMEM191B LINC00895 LOC100996401 LOC642643 GGT3P LOC100996432 C22orf29 MRPL40 C22orf39 MIR4761 FAM230A CLDN5 TSSK2 SEPT5-GP1BB SLC25A1 DGCR6 HIRA TBX1 LOC100996415 GSC2 LINC01311 DGCR5 LOC729461 DGCR2 DGCR11 PRODH TXNRD2 GP1BB DGCR10

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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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