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

Chr.22:19770246 on build GRCh38
Cytoband
22q11.21
Assay ID Hs04077091_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 LOC101927859 GNB1L COMT TBX1 C22orf29 TRMT2A MIR6816 UFD1L LINC00896 LINC00895 MIR4761 MIR185 ZDHHC8 ARVCF TANGO2 TXNRD2 GP1BB MIR1306 MIR3618 MIR1286 RTN4R CDC45 DGCR8 RANBP1 SEPT5 SEPT5-GP1BB CLDN5 DGCR6L LOC440792 CCDC188
nsv828938 Chr.22:19691069 - 20324465 on Build GRCh38 Gain LOC284865 GNB1L COMT TBX1 C22orf29 TRMT2A MIR6816 LINC00896 MIR4761 MIR185 ZDHHC8 ARVCF TANGO2 TXNRD2 GP1BB MIR1306 MIR3618 MIR1286 RTN4R DGCR8 RANBP1 SEPT5 SEPT5-GP1BB DGCR6L LOC440792 CCDC188
dgv7982n54 Chr.22:19750832 - 19770876 on Build GRCh38 Loss TBX1
nsv828943 Chr.22:19720750 - 19797550 on Build GRCh38 Loss GNB1L SEPT5 SEPT5-GP1BB GP1BB TBX1
esv3647279 Chr.22:19719848 - 19878980 on Build GRCh38 Gain GNB1L SEPT5 SEPT5-GP1BB TXNRD2 GP1BB TBX1 C22orf29
esv3568257 Chr.22:19767271 - 19770750 on Build GRCh38 Loss TBX1
dgv7983n54 Chr.22:19762002 - 20321870 on Build GRCh38 Gain LOC284865 ARVCF TANGO2 GNB1L TXNRD2 COMT MIR1306 MIR3618 TBX1 C22orf29 MIR1286 RTN4R TRMT2A DGCR8 RANBP1 MIR6816 DGCR6L LOC440792 CCDC188 LINC00896 MIR4761 MIR185 ZDHHC8
nsv588216 Chr.22:19086099 - 19839117 on Build GRCh38 Gain GNB1L TSSK2 LINC01311 DGCR2 GP1BB MRPL40 TBX1 HIRA CDC45 DGCR14 C22orf39 GSC2 SEPT5 SEPT5-GP1BB CLDN5 SLC25A1 CLTCL1 UFD1L LINC00895
nsv834129 Chr.22:19705617 - 19919068 on Build GRCh38 Loss GNB1L SEPT5 SEPT5-GP1BB TXNRD2 GP1BB TBX1 C22orf29
nsv517478 Chr.22:19703979 - 19817740 on Build GRCh38 Loss GNB1L SEPT5 SEPT5-GP1BB GP1BB TBX1
dgv725n67 Chr.22:19711970 - 19797426 on Build GRCh38 Gain GNB1L SEPT5 SEPT5-GP1BB GP1BB TBX1
nsv828939 Chr.22:19696032 - 20324465 on Build GRCh38 Loss LOC284865 GNB1L COMT TBX1 C22orf29 TRMT2A MIR6816 LINC00896 MIR4761 MIR185 ZDHHC8 ARVCF TANGO2 TXNRD2 GP1BB MIR1306 MIR3618 MIR1286 RTN4R DGCR8 RANBP1 SEPT5 SEPT5-GP1BB DGCR6L LOC440792 CCDC188
nsv471181 Chr.22:19729797 - 19815256 on Build GRCh38 Loss GNB1L TBX1
nsv953023 Chr.22:19716878 - 19770977 on Build GRCh38 Deletion SEPT5 SEPT5-GP1BB GP1BB TBX1
nsv834128 Chr.22:19634627 - 19803975 on Build GRCh38 Loss GNB1L SEPT5 SEPT5-GP1BB GP1BB TBX1
esv2751940 Chr.22:19435727 - 19779259 on Build GRCh38 Gain CDC45 C22orf39 SEPT5 SEPT5-GP1BB CLDN5 GP1BB MRPL40 TBX1 UFD1L LINC00895
esv3575418 Chr.22:18161776 - 19963846 on Build GRCh38 Gain LOC729461 TMEM191B RIMBP3 LOC100996401 GNB1L TSSK2 DGCR2 COMT PI4KAP1 TBX1 C22orf29 HIRA GSC2 DGCR9 FAM230A LOC642643 UFD1L LINC00895 MIR4761 PRODH LINC01311 TXNRD2 LOC100996415 GP1BB MRPL40 DGCR5 DGCR6 DGCR11 DGCR10 LOC100996432 CDC45 DGCR14 C22orf39 SEPT5 SEPT5-GP1BB USP18 CLDN5 LOC102725072 SLC25A1 GGT3P CLTCL1

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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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