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

Chr.22:19757498 on build GRCh38
Cytoband
22q11.21
Assay ID Hs04079034_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 RTN4R LOC440792 GNB1L MIR1306 MIR1286 MIR4761 SEPT5-GP1BB TANGO2 RANBP1 LINC00896 TBX1 COMT C22orf29 ZDHHC8 GP1BB LOC101927859 UFD1L MIR6816 MIR3618 LOC284865 LINC00895 CCDC188 ARVCF DGCR6L CDC45 TXNRD2 TRMT2A MIR185 SEPT5 DGCR8 CLDN5
nsv828938 Chr.22:19691069 - 20324465 on Build GRCh38 Gain RTN4R LOC440792 GNB1L MIR1306 MIR1286 MIR4761 SEPT5-GP1BB TANGO2 RANBP1 LINC00896 TBX1 COMT C22orf29 ZDHHC8 GP1BB MIR6816 MIR3618 LOC284865 CCDC188 ARVCF DGCR6L TXNRD2 TRMT2A MIR185 SEPT5 DGCR8
dgv7982n54 Chr.22:19750832 - 19770876 on Build GRCh38 Loss TBX1
nsv828943 Chr.22:19720750 - 19797550 on Build GRCh38 Loss GNB1L TBX1 SEPT5 GP1BB SEPT5-GP1BB
esv3647279 Chr.22:19719848 - 19878980 on Build GRCh38 Gain TXNRD2 GNB1L TBX1 C22orf29 SEPT5 GP1BB SEPT5-GP1BB
nsv588216 Chr.22:19086099 - 19839117 on Build GRCh38 Gain GNB1L CLTCL1 SEPT5-GP1BB DGCR14 LINC00895 C22orf39 TSSK2 CDC45 SLC25A1 GSC2 DGCR2 LINC01311 TBX1 HIRA SEPT5 GP1BB MRPL40 UFD1L CLDN5
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 TXNRD2 GNB1L TBX1 C22orf29 SEPT5 GP1BB SEPT5-GP1BB
nsv517478 Chr.22:19703979 - 19817740 on Build GRCh38 Loss GNB1L TBX1 SEPT5 GP1BB SEPT5-GP1BB
dgv725n67 Chr.22:19711970 - 19797426 on Build GRCh38 Gain GNB1L TBX1 SEPT5 GP1BB SEPT5-GP1BB
nsv828939 Chr.22:19696032 - 20324465 on Build GRCh38 Loss RTN4R LOC440792 GNB1L MIR1306 MIR1286 MIR4761 SEPT5-GP1BB TANGO2 RANBP1 LINC00896 TBX1 COMT C22orf29 ZDHHC8 GP1BB MIR6816 MIR3618 LOC284865 CCDC188 ARVCF DGCR6L TXNRD2 TRMT2A MIR185 SEPT5 DGCR8
nsv471181 Chr.22:19729797 - 19815256 on Build GRCh38 Loss GNB1L TBX1
nsv953023 Chr.22:19716878 - 19770977 on Build GRCh38 Deletion TBX1 SEPT5 GP1BB SEPT5-GP1BB
nsv834128 Chr.22:19634627 - 19803975 on Build GRCh38 Loss GNB1L TBX1 SEPT5 GP1BB SEPT5-GP1BB
nsv828946 Chr.22:19753679 - 19768165 on Build GRCh38 Gain TBX1
esv2751940 Chr.22:19435727 - 19779259 on Build GRCh38 Gain TBX1 SEPT5 GP1BB SEPT5-GP1BB LINC00895 MRPL40 UFD1L C22orf39 CLDN5 CDC45
esv3575418 Chr.22:18161776 - 19963846 on Build GRCh38 Gain LOC100996401 GNB1L LOC729461 FAM230A MIR4761 SEPT5-GP1BB DGCR14 LOC102725072 LOC642643 TSSK2 DGCR6 PRODH GSC2 DGCR11 TBX1 COMT C22orf29 HIRA GP1BB DGCR10 UFD1L USP18 TMEM191B DGCR9 LOC100996415 CLTCL1 LOC100996432 LINC00895 C22orf39 CDC45 SLC25A1 TXNRD2 DGCR2 LINC01311 DGCR5 SEPT5 RIMBP3 GGT3P MRPL40 PI4KAP1 CLDN5
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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