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

Chr.22:19771105 on build GRCh38
Cytoband
22q11.21
Assay ID Hs04090666_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 GP1BB TANGO2 DGCR6L LOC101927859 MIR4761 SEPT5-GP1BB SEPT5 ARVCF TRMT2A MIR6816 LOC440792 ZDHHC8 C22orf29 UFD1L RTN4R GNB1L MIR1286 COMT LINC00896 RANBP1 LINC00895 DGCR8 MIR1306 TBX1 CDC45 CCDC188 LOC284865 MIR3618 MIR185 CLDN5 TXNRD2
nsv828938 Chr.22:19691069 - 20324465 on Build GRCh38 Gain GP1BB TANGO2 DGCR6L MIR4761 SEPT5-GP1BB SEPT5 ARVCF TRMT2A MIR6816 LOC440792 ZDHHC8 C22orf29 RTN4R GNB1L MIR1286 COMT LINC00896 RANBP1 DGCR8 MIR1306 TBX1 CCDC188 LOC284865 MIR3618 MIR185 TXNRD2
nsv828943 Chr.22:19720750 - 19797550 on Build GRCh38 Loss GP1BB SEPT5-GP1BB SEPT5 GNB1L TBX1
esv3647279 Chr.22:19719848 - 19878980 on Build GRCh38 Gain GP1BB C22orf29 SEPT5-GP1BB SEPT5 GNB1L TBX1 TXNRD2
dgv7983n54 Chr.22:19762002 - 20321870 on Build GRCh38 Gain DGCR8 MIR1306 TANGO2 DGCR6L MIR4761 ARVCF TRMT2A TBX1 MIR6816 CCDC188 LOC440792 ZDHHC8 C22orf29 LOC284865 MIR3618 RTN4R GNB1L MIR185 MIR1286 TXNRD2 COMT LINC00896 RANBP1
nsv588216 Chr.22:19086099 - 19839117 on Build GRCh38 Gain LINC00895 GSC2 GP1BB CLTCL1 SEPT5-GP1BB HIRA SEPT5 TBX1 DGCR2 CDC45 TSSK2 DGCR14 SLC25A1 LINC01311 UFD1L C22orf39 GNB1L CLDN5 MRPL40
nsv834129 Chr.22:19705617 - 19919068 on Build GRCh38 Loss GP1BB C22orf29 SEPT5-GP1BB SEPT5 GNB1L TBX1 TXNRD2
nsv517478 Chr.22:19703979 - 19817740 on Build GRCh38 Loss GP1BB SEPT5-GP1BB SEPT5 GNB1L TBX1
dgv725n67 Chr.22:19711970 - 19797426 on Build GRCh38 Gain GP1BB SEPT5-GP1BB SEPT5 GNB1L TBX1
nsv828939 Chr.22:19696032 - 20324465 on Build GRCh38 Loss GP1BB TANGO2 DGCR6L MIR4761 SEPT5-GP1BB SEPT5 ARVCF TRMT2A MIR6816 LOC440792 ZDHHC8 C22orf29 RTN4R GNB1L MIR1286 COMT LINC00896 RANBP1 DGCR8 MIR1306 TBX1 CCDC188 LOC284865 MIR3618 MIR185 TXNRD2
nsv471181 Chr.22:19729797 - 19815256 on Build GRCh38 Loss GNB1L TBX1
nsv834128 Chr.22:19634627 - 19803975 on Build GRCh38 Loss GP1BB SEPT5-GP1BB SEPT5 GNB1L TBX1
esv2751940 Chr.22:19435727 - 19779259 on Build GRCh38 Gain LINC00895 GP1BB SEPT5-GP1BB SEPT5 UFD1L C22orf39 CLDN5 TBX1 CDC45 MRPL40
esv3575418 Chr.22:18161776 - 19963846 on Build GRCh38 Gain USP18 GP1BB CLTCL1 MIR4761 PI4KAP1 TMEM191B FAM230A SEPT5-GP1BB HIRA SEPT5 DGCR2 DGCR14 DGCR6 LOC729461 C22orf29 UFD1L GNB1L DGCR11 COMT MRPL40 DGCR10 LINC00895 GSC2 RIMBP3 DGCR5 TBX1 PRODH CDC45 TSSK2 DGCR9 SLC25A1 LOC102725072 LOC642643 LINC01311 LOC100996432 C22orf39 LOC100996401 CLDN5 GGT3P TXNRD2 LOC100996415

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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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