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

Chr.22:19783317 on build GRCh38
Cytoband
22q11.21
Assay ID Hs01313390_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 12 - Exon 13
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
TBX1 NM_005992.1 NP_005983.1
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 GNB1L TXNRD2 RANBP1 TBX1 TANGO2 ZDHHC8 MIR6816 CLDN5 DGCR8 SEPT5 LOC440792 CDC45 GP1BB C22orf29 LINC00896 MIR4761 UFD1L LOC101927859 LINC00895 COMT MIR1286 DGCR6L TRMT2A SEPT5-GP1BB MIR1306 LOC284865 MIR185 CCDC188 ARVCF MIR3618 RTN4R
nsv828938 Chr.22:19691069 - 20324465 on Build GRCh38 Gain GNB1L TXNRD2 RANBP1 TBX1 TANGO2 ZDHHC8 MIR6816 DGCR8 SEPT5 LOC440792 GP1BB C22orf29 LINC00896 MIR4761 COMT MIR1286 DGCR6L TRMT2A SEPT5-GP1BB MIR1306 LOC284865 MIR185 CCDC188 ARVCF MIR3618 RTN4R
esv3568260 Chr.22:19777375 - 19881883 on Build GRCh38 Loss C22orf29 GNB1L TXNRD2 TBX1
nsv828943 Chr.22:19720750 - 19797550 on Build GRCh38 Loss GP1BB SEPT5-GP1BB GNB1L SEPT5 TBX1
esv3647279 Chr.22:19719848 - 19878980 on Build GRCh38 Gain GP1BB SEPT5-GP1BB C22orf29 GNB1L TXNRD2 SEPT5 TBX1
dgv7983n54 Chr.22:19762002 - 20321870 on Build GRCh38 Gain C22orf29 LINC00896 GNB1L TXNRD2 MIR4761 RANBP1 TBX1 TANGO2 ZDHHC8 COMT MIR6816 MIR1286 DGCR6L TRMT2A MIR1306 LOC284865 MIR185 CCDC188 DGCR8 ARVCF MIR3618 LOC440792 RTN4R
nsv588216 Chr.22:19086099 - 19839117 on Build GRCh38 Gain CLTCL1 GP1BB TSSK2 GNB1L DGCR14 SLC25A1 LINC01311 UFD1L GSC2 TBX1 LINC00895 HIRA SEPT5-GP1BB CLDN5 MRPL40 SEPT5 C22orf39 DGCR2 CDC45
nsv834129 Chr.22:19705617 - 19919068 on Build GRCh38 Loss GP1BB SEPT5-GP1BB C22orf29 GNB1L TXNRD2 SEPT5 TBX1
nsv517478 Chr.22:19703979 - 19817740 on Build GRCh38 Loss GP1BB SEPT5-GP1BB GNB1L SEPT5 TBX1
dgv725n67 Chr.22:19711970 - 19797426 on Build GRCh38 Gain GP1BB SEPT5-GP1BB GNB1L SEPT5 TBX1
nsv828939 Chr.22:19696032 - 20324465 on Build GRCh38 Loss GNB1L TXNRD2 RANBP1 TBX1 TANGO2 ZDHHC8 MIR6816 DGCR8 SEPT5 LOC440792 GP1BB C22orf29 LINC00896 MIR4761 COMT MIR1286 DGCR6L TRMT2A SEPT5-GP1BB MIR1306 LOC284865 MIR185 CCDC188 ARVCF MIR3618 RTN4R
nsv471181 Chr.22:19729797 - 19815256 on Build GRCh38 Loss GNB1L TBX1
nsv834128 Chr.22:19634627 - 19803975 on Build GRCh38 Loss GP1BB SEPT5-GP1BB GNB1L SEPT5 TBX1
esv3575418 Chr.22:18161776 - 19963846 on Build GRCh38 Gain PI4KAP1 DGCR9 DGCR5 RIMBP3 GNB1L SLC25A1 LOC642643 DGCR11 TXNRD2 LOC100996432 LINC01311 GSC2 TBX1 HIRA LOC100996401 CLDN5 FAM230A LOC729461 SEPT5 DGCR2 CDC45 CLTCL1 GP1BB LOC100996415 USP18 C22orf29 DGCR10 TSSK2 DGCR14 LOC102725072 MIR4761 TMEM191B UFD1L LINC00895 PRODH COMT SEPT5-GP1BB DGCR6 MRPL40 GGT3P C22orf39

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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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