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

Chr.22:19779245 on build GRCh38
Cytoband
22q11.21
Assay ID Hs00278664_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:

 Overlaps Intron 10 - Exon 11
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 TANGO2 MIR1306 GNB1L LINC00896 C22orf29 ZDHHC8 CDC45 TBX1 MIR185 LOC101927859 RTN4R LINC00895 MIR1286 DGCR6L DGCR8 UFD1L LOC284865 MIR3618 CLDN5 RANBP1 GP1BB LOC440792 CCDC188 SEPT5-GP1BB SEPT5 ARVCF COMT TXNRD2 TRMT2A MIR4761 MIR6816
nsv828938 Chr.22:19691069 - 20324465 on Build GRCh38 Gain TANGO2 MIR1306 GNB1L LINC00896 C22orf29 ZDHHC8 TBX1 MIR185 RTN4R MIR1286 DGCR6L DGCR8 LOC284865 MIR3618 RANBP1 GP1BB LOC440792 CCDC188 SEPT5-GP1BB SEPT5 ARVCF COMT TXNRD2 TRMT2A MIR4761 MIR6816
esv3568260 Chr.22:19777375 - 19881883 on Build GRCh38 Loss GNB1L C22orf29 TXNRD2 TBX1
nsv828943 Chr.22:19720750 - 19797550 on Build GRCh38 Loss GNB1L TBX1 GP1BB SEPT5-GP1BB SEPT5
esv3647279 Chr.22:19719848 - 19878980 on Build GRCh38 Gain GNB1L C22orf29 TXNRD2 TBX1 GP1BB SEPT5-GP1BB SEPT5
dgv7983n54 Chr.22:19762002 - 20321870 on Build GRCh38 Gain LOC284865 TANGO2 MIR1306 GNB1L MIR3618 LINC00896 C22orf29 ZDHHC8 RANBP1 TBX1 MIR185 LOC440792 CCDC188 RTN4R ARVCF COMT TXNRD2 TRMT2A MIR4761 MIR1286 DGCR6L DGCR8 MIR6816
nsv588216 Chr.22:19086099 - 19839117 on Build GRCh38 Gain GNB1L LINC01311 HIRA CDC45 CLDN5 C22orf39 MRPL40 TBX1 GP1BB GSC2 CLTCL1 DGCR14 SEPT5-GP1BB SEPT5 LINC00895 DGCR2 SLC25A1 TSSK2 UFD1L
nsv834129 Chr.22:19705617 - 19919068 on Build GRCh38 Loss GNB1L C22orf29 TXNRD2 TBX1 GP1BB SEPT5-GP1BB SEPT5
nsv517478 Chr.22:19703979 - 19817740 on Build GRCh38 Loss GNB1L TBX1 GP1BB SEPT5-GP1BB SEPT5
dgv725n67 Chr.22:19711970 - 19797426 on Build GRCh38 Gain GNB1L TBX1 GP1BB SEPT5-GP1BB SEPT5
nsv828939 Chr.22:19696032 - 20324465 on Build GRCh38 Loss TANGO2 MIR1306 GNB1L LINC00896 C22orf29 ZDHHC8 TBX1 MIR185 RTN4R MIR1286 DGCR6L DGCR8 LOC284865 MIR3618 RANBP1 GP1BB LOC440792 CCDC188 SEPT5-GP1BB SEPT5 ARVCF COMT TXNRD2 TRMT2A MIR4761 MIR6816
nsv471181 Chr.22:19729797 - 19815256 on Build GRCh38 Loss GNB1L TBX1
nsv828948 Chr.22:19779108 - 19779692 on Build GRCh38 Loss TBX1
nsv834128 Chr.22:19634627 - 19803975 on Build GRCh38 Loss GNB1L TBX1 GP1BB SEPT5-GP1BB SEPT5
esv2751940 Chr.22:19435727 - 19779259 on Build GRCh38 Gain LINC00895 CDC45 CLDN5 C22orf39 MRPL40 TBX1 GP1BB SEPT5-GP1BB UFD1L SEPT5
esv3575418 Chr.22:18161776 - 19963846 on Build GRCh38 Gain LOC100996415 PRODH GNB1L LINC01311 C22orf29 CDC45 C22orf39 RIMBP3 MRPL40 TBX1 CLTCL1 GGT3P FAM230A LOC102725072 LINC00895 LOC100996432 SLC25A1 LOC100996401 TSSK2 UFD1L DGCR5 USP18 HIRA DGCR9 CLDN5 PI4KAP1 LOC642643 GP1BB GSC2 DGCR14 SEPT5-GP1BB SEPT5 DGCR11 COMT DGCR2 TXNRD2 MIR4761 TMEM191B LOC729461 DGCR6 DGCR10

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More Information


Set Membership:

 Intragenic Non-exonic DGV Variation

Panther Classification:

Gene Ontology Categories:

Function(s) Process(es)


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