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Gene Symbol
TBX1
Assay Reference Genome
Location

Chr.22:19769542 on build GRCh38
Cytoband
22q11.21
Assay ID Hs04093394_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 SEPT5-GP1BB CDC45 MIR185 MIR4761 MIR1306 TRMT2A RTN4R TXNRD2 MIR6816 LINC00896 LOC284865 TBX1 RANBP1 GP1BB DGCR6L MIR3618 SEPT5 GNB1L LOC101927859 CLDN5 MIR1286 TANGO2 UFD1L ZDHHC8 LINC00895 ARVCF CCDC188 COMT DGCR8 C22orf29 LOC440792
nsv828938 Chr.22:19691069 - 20324465 on Build GRCh38 Gain SEPT5-GP1BB MIR185 MIR4761 MIR1306 TRMT2A RTN4R TXNRD2 MIR6816 LINC00896 LOC284865 TBX1 RANBP1 GP1BB DGCR6L MIR3618 SEPT5 GNB1L MIR1286 TANGO2 ZDHHC8 ARVCF CCDC188 COMT DGCR8 C22orf29 LOC440792
dgv7982n54 Chr.22:19750832 - 19770876 on Build GRCh38 Loss TBX1
nsv828943 Chr.22:19720750 - 19797550 on Build GRCh38 Loss SEPT5-GP1BB TBX1 GP1BB SEPT5 GNB1L
esv3647279 Chr.22:19719848 - 19878980 on Build GRCh38 Gain SEPT5-GP1BB TBX1 GP1BB C22orf29 SEPT5 GNB1L TXNRD2
esv3568257 Chr.22:19767271 - 19770750 on Build GRCh38 Loss TBX1
dgv7983n54 Chr.22:19762002 - 20321870 on Build GRCh38 Gain DGCR6L MIR3618 MIR185 MIR4761 MIR1306 GNB1L TRMT2A RTN4R TXNRD2 MIR6816 MIR1286 TANGO2 ZDHHC8 ARVCF CCDC188 COMT LINC00896 LOC284865 DGCR8 TBX1 RANBP1 C22orf29 LOC440792
nsv588216 Chr.22:19086099 - 19839117 on Build GRCh38 Gain SEPT5-GP1BB CDC45 C22orf39 CLTCL1 GSC2 SEPT5 GNB1L DGCR2 DGCR14 MRPL40 CLDN5 UFD1L LINC00895 TSSK2 SLC25A1 LINC01311 TBX1 HIRA GP1BB
nsv834129 Chr.22:19705617 - 19919068 on Build GRCh38 Loss SEPT5-GP1BB TBX1 GP1BB C22orf29 SEPT5 GNB1L TXNRD2
nsv517478 Chr.22:19703979 - 19817740 on Build GRCh38 Loss SEPT5-GP1BB TBX1 GP1BB SEPT5 GNB1L
dgv725n67 Chr.22:19711970 - 19797426 on Build GRCh38 Gain SEPT5-GP1BB TBX1 GP1BB SEPT5 GNB1L
nsv828939 Chr.22:19696032 - 20324465 on Build GRCh38 Loss SEPT5-GP1BB MIR185 MIR4761 MIR1306 TRMT2A RTN4R TXNRD2 MIR6816 LINC00896 LOC284865 TBX1 RANBP1 GP1BB DGCR6L MIR3618 SEPT5 GNB1L MIR1286 TANGO2 ZDHHC8 ARVCF CCDC188 COMT DGCR8 C22orf29 LOC440792
nsv471181 Chr.22:19729797 - 19815256 on Build GRCh38 Loss TBX1 GNB1L
nsv953023 Chr.22:19716878 - 19770977 on Build GRCh38 Deletion SEPT5-GP1BB TBX1 GP1BB SEPT5
nsv834128 Chr.22:19634627 - 19803975 on Build GRCh38 Loss SEPT5-GP1BB TBX1 GP1BB SEPT5 GNB1L
esv2751940 Chr.22:19435727 - 19779259 on Build GRCh38 Gain CLDN5 UFD1L SEPT5-GP1BB LINC00895 CDC45 C22orf39 TBX1 GP1BB SEPT5 MRPL40
esv3575418 Chr.22:18161776 - 19963846 on Build GRCh38 Gain LOC102725072 SEPT5-GP1BB FAM230A CDC45 C22orf39 USP18 MIR4761 GSC2 LOC642643 DGCR2 DGCR14 TXNRD2 PRODH TSSK2 LINC01311 LOC100996401 TBX1 GP1BB LOC729461 DGCR6 GGT3P LOC100996432 DGCR5 DGCR9 CLTCL1 RIMBP3 SEPT5 GNB1L DGCR10 MRPL40 LOC100996415 DGCR11 CLDN5 UFD1L LINC00895 SLC25A1 COMT TMEM191B HIRA C22orf29 PI4KAP1

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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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