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Gene Symbol
TBX1
Assay Reference Genome
Location

Chr.22:19768301 on build GRCh38
Cytoband
22q11.21
Assay ID Hs04081540_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 RTN4R LOC284865 GP1BB MIR4761 MIR1286 TBX1 MIR1306 TRMT2A GNB1L CDC45 LOC101927859 LOC440792 MIR3618 LINC00896 COMT DGCR6L TANGO2 DGCR8 SEPT5 CCDC188 ZDHHC8 ARVCF MIR185 RANBP1 CLDN5 TXNRD2 UFD1L SEPT5-GP1BB LINC00895 C22orf29 MIR6816
nsv828938 Chr.22:19691069 - 20324465 on Build GRCh38 Gain RTN4R LOC284865 GP1BB MIR4761 MIR1286 TBX1 MIR1306 TRMT2A GNB1L LOC440792 MIR3618 LINC00896 COMT DGCR6L TANGO2 DGCR8 SEPT5 CCDC188 ZDHHC8 ARVCF MIR185 RANBP1 TXNRD2 SEPT5-GP1BB C22orf29 MIR6816
dgv7982n54 Chr.22:19750832 - 19770876 on Build GRCh38 Loss TBX1
nsv828943 Chr.22:19720750 - 19797550 on Build GRCh38 Loss GP1BB SEPT5-GP1BB TBX1 SEPT5 GNB1L
esv3647279 Chr.22:19719848 - 19878980 on Build GRCh38 Gain TXNRD2 GP1BB SEPT5-GP1BB TBX1 C22orf29 SEPT5 GNB1L
esv3568257 Chr.22:19767271 - 19770750 on Build GRCh38 Loss TBX1
dgv7983n54 Chr.22:19762002 - 20321870 on Build GRCh38 Gain RTN4R LOC284865 TANGO2 MIR4761 MIR1286 TBX1 MIR1306 DGCR8 TRMT2A CCDC188 ZDHHC8 GNB1L ARVCF MIR185 RANBP1 LOC440792 MIR3618 TXNRD2 LINC00896 COMT C22orf29 MIR6816 DGCR6L
nsv588216 Chr.22:19086099 - 19839117 on Build GRCh38 Gain HIRA LINC01311 GP1BB CLTCL1 MRPL40 TBX1 GSC2 C22orf39 DGCR2 SEPT5 TSSK2 GNB1L CDC45 CLDN5 DGCR14 UFD1L SLC25A1 SEPT5-GP1BB LINC00895
nsv834129 Chr.22:19705617 - 19919068 on Build GRCh38 Loss TXNRD2 GP1BB SEPT5-GP1BB TBX1 C22orf29 SEPT5 GNB1L
nsv517478 Chr.22:19703979 - 19817740 on Build GRCh38 Loss GP1BB SEPT5-GP1BB TBX1 SEPT5 GNB1L
dgv725n67 Chr.22:19711970 - 19797426 on Build GRCh38 Gain GP1BB SEPT5-GP1BB TBX1 SEPT5 GNB1L
nsv828939 Chr.22:19696032 - 20324465 on Build GRCh38 Loss RTN4R LOC284865 GP1BB MIR4761 MIR1286 TBX1 MIR1306 TRMT2A GNB1L LOC440792 MIR3618 LINC00896 COMT DGCR6L TANGO2 DGCR8 SEPT5 CCDC188 ZDHHC8 ARVCF MIR185 RANBP1 TXNRD2 SEPT5-GP1BB C22orf29 MIR6816
nsv471181 Chr.22:19729797 - 19815256 on Build GRCh38 Loss TBX1 GNB1L
nsv953023 Chr.22:19716878 - 19770977 on Build GRCh38 Deletion GP1BB SEPT5-GP1BB TBX1 SEPT5
nsv834128 Chr.22:19634627 - 19803975 on Build GRCh38 Loss GP1BB SEPT5-GP1BB TBX1 SEPT5 GNB1L
esv2751940 Chr.22:19435727 - 19779259 on Build GRCh38 Gain CLDN5 UFD1L GP1BB SEPT5-GP1BB LINC00895 MRPL40 TBX1 C22orf39 SEPT5 CDC45
esv3575418 Chr.22:18161776 - 19963846 on Build GRCh38 Gain LOC729461 LOC642643 GP1BB MIR4761 PRODH LOC102725072 TBX1 TSSK2 GNB1L CDC45 DGCR14 DGCR5 COMT FAM230A RIMBP3 DGCR6 USP18 HIRA PI4KAP1 LOC100996415 LINC01311 DGCR9 CLTCL1 GGT3P TMEM191B MRPL40 GSC2 C22orf39 DGCR2 SEPT5 CLDN5 TXNRD2 UFD1L SLC25A1 SEPT5-GP1BB LINC00895 C22orf29 DGCR10 DGCR11 LOC100996432 LOC100996401

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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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