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

Chr.22:19758241 on build GRCh38
Cytoband
22q11.21
Assay ID Hs04078752_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 1
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
TBX1 NM_005992.1 NP_005983.1
NM_080646.1 NP_542377.1
NM_080647.1 NP_542378.1
AF012130.1 AAB94018.1
AF012131.1 AAB94019.1
AF373867.1 AAK58955.1

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 CCDC188 MIR1306 MIR4761 SEPT5-GP1BB DGCR6L TXNRD2 RANBP1 LINC00895 UFD1L ZDHHC8 DGCR8 ARVCF GP1BB RTN4R GNB1L CDC45 SEPT5 LOC440792 C22orf29 TBX1 LINC00896 CLDN5 LOC284865 COMT MIR6816 TANGO2 MIR3618 LOC101927859 TRMT2A MIR185 MIR1286
nsv828938 Chr.22:19691069 - 20324465 on Build GRCh38 Gain CCDC188 MIR1306 MIR4761 SEPT5-GP1BB DGCR6L TXNRD2 RANBP1 ZDHHC8 DGCR8 ARVCF GP1BB RTN4R GNB1L SEPT5 LOC440792 C22orf29 TBX1 LINC00896 LOC284865 COMT MIR6816 TANGO2 MIR3618 TRMT2A MIR185 MIR1286
dgv7982n54 Chr.22:19750832 - 19770876 on Build GRCh38 Loss TBX1
nsv828943 Chr.22:19720750 - 19797550 on Build GRCh38 Loss SEPT5-GP1BB TBX1 GP1BB GNB1L SEPT5
esv3647279 Chr.22:19719848 - 19878980 on Build GRCh38 Gain SEPT5-GP1BB C22orf29 TBX1 GP1BB GNB1L TXNRD2 SEPT5
nsv588216 Chr.22:19086099 - 19839117 on Build GRCh38 Gain SEPT5-GP1BB TBX1 HIRA DGCR14 GSC2 MRPL40 CLDN5 LINC00895 UFD1L CLTCL1 TSSK2 LINC01311 C22orf39 GP1BB GNB1L CDC45 SLC25A1 DGCR2 SEPT5
nsv588231 Chr.22:19743069 - 19760950 on Build GRCh38 Loss TBX1
esv3575428 Chr.22:19732005 - 19767158 on Build GRCh38 Gain TBX1
nsv834129 Chr.22:19705617 - 19919068 on Build GRCh38 Loss SEPT5-GP1BB C22orf29 TBX1 GP1BB GNB1L TXNRD2 SEPT5
nsv517478 Chr.22:19703979 - 19817740 on Build GRCh38 Loss SEPT5-GP1BB TBX1 GP1BB GNB1L SEPT5
dgv725n67 Chr.22:19711970 - 19797426 on Build GRCh38 Gain SEPT5-GP1BB TBX1 GP1BB GNB1L SEPT5
nsv828939 Chr.22:19696032 - 20324465 on Build GRCh38 Loss CCDC188 MIR1306 MIR4761 SEPT5-GP1BB DGCR6L TXNRD2 RANBP1 ZDHHC8 DGCR8 ARVCF GP1BB RTN4R GNB1L SEPT5 LOC440792 C22orf29 TBX1 LINC00896 LOC284865 COMT MIR6816 TANGO2 MIR3618 TRMT2A MIR185 MIR1286
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 GNB1L SEPT5
nsv828946 Chr.22:19753679 - 19768165 on Build GRCh38 Gain TBX1
esv2751940 Chr.22:19435727 - 19779259 on Build GRCh38 Gain SEPT5-GP1BB LINC00895 UFD1L TBX1 C22orf39 GP1BB CDC45 MRPL40 CLDN5 SEPT5
esv3575418 Chr.22:18161776 - 19963846 on Build GRCh38 Gain RIMBP3 PRODH LOC100996415 MIR4761 SEPT5-GP1BB DGCR11 GSC2 TXNRD2 FAM230A GGT3P LINC00895 UFD1L LOC102725072 LOC100996401 CLTCL1 TSSK2 LOC729461 TMEM191B C22orf39 DGCR9 GP1BB GNB1L CDC45 SLC25A1 SEPT5 PI4KAP1 DGCR6 C22orf29 TBX1 HIRA DGCR14 MRPL40 CLDN5 USP18 DGCR10 COMT LOC100996432 LOC642643 LINC01311 DGCR2 DGCR5
nsv588235 Chr.22:19757169 - 19762002 on Build GRCh38 Loss TBX1

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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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