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

Chr.22:19763365 on build GRCh38
Cytoband
22q11.21
Assay ID Hs01689299_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 Exon 5 - Intron 5
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
XM_006724312.2 XP_006724375.1
XM_017028925.1 XP_016884414.1
XM_017028926.1 XP_016884415.1
XM_017028928.1 XP_016884417.1
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 ZDHHC8 TRMT2A MIR6816 GP1BB MIR1306 CDC45 TBX1 SEPT5-GP1BB UFD1L MIR1286 MIR4761 GNB1L DGCR6L SEPT5 COMT ARVCF LOC440792 TXNRD2 CCDC188 RANBP1 LINC00895 LINC00896 TANGO2 MIR185 DGCR8 CLDN5 C22orf29 MIR3618 LOC284865 RTN4R LOC101927859
nsv828938 Chr.22:19691069 - 20324465 on Build GRCh38 Gain ZDHHC8 TRMT2A MIR6816 GP1BB MIR1306 TBX1 SEPT5-GP1BB MIR1286 MIR4761 GNB1L DGCR6L SEPT5 COMT ARVCF LOC440792 TXNRD2 CCDC188 RANBP1 LINC00896 TANGO2 MIR185 DGCR8 C22orf29 MIR3618 LOC284865 RTN4R
dgv7982n54 Chr.22:19750832 - 19770876 on Build GRCh38 Loss TBX1
nsv828943 Chr.22:19720750 - 19797550 on Build GRCh38 Loss GP1BB GNB1L SEPT5 TBX1 SEPT5-GP1BB
esv3647279 Chr.22:19719848 - 19878980 on Build GRCh38 Gain GP1BB GNB1L SEPT5 TBX1 SEPT5-GP1BB TXNRD2 C22orf29
dgv7983n54 Chr.22:19762002 - 20321870 on Build GRCh38 Gain ZDHHC8 TRMT2A MIR6816 MIR1306 TBX1 MIR1286 LINC00896 TANGO2 MIR185 DGCR8 C22orf29 MIR4761 GNB1L MIR3618 DGCR6L COMT ARVCF LOC440792 TXNRD2 LOC284865 RTN4R CCDC188 RANBP1
nsv588216 Chr.22:19086099 - 19839117 on Build GRCh38 Gain SLC25A1 GP1BB MRPL40 CDC45 TBX1 CLTCL1 SEPT5-GP1BB LINC00895 UFD1L GSC2 DGCR14 C22orf39 CLDN5 TSSK2 HIRA GNB1L LINC01311 SEPT5 DGCR2
esv3575428 Chr.22:19732005 - 19767158 on Build GRCh38 Gain TBX1
nsv834129 Chr.22:19705617 - 19919068 on Build GRCh38 Loss GP1BB GNB1L SEPT5 TBX1 SEPT5-GP1BB TXNRD2 C22orf29
nsv517478 Chr.22:19703979 - 19817740 on Build GRCh38 Loss GP1BB GNB1L SEPT5 TBX1 SEPT5-GP1BB
nsv828947 Chr.22:19761471 - 19765098 on Build GRCh38 Gain TBX1
dgv725n67 Chr.22:19711970 - 19797426 on Build GRCh38 Gain GP1BB GNB1L SEPT5 TBX1 SEPT5-GP1BB
nsv828939 Chr.22:19696032 - 20324465 on Build GRCh38 Loss ZDHHC8 TRMT2A MIR6816 GP1BB MIR1306 TBX1 SEPT5-GP1BB MIR1286 MIR4761 GNB1L DGCR6L SEPT5 COMT ARVCF LOC440792 TXNRD2 CCDC188 RANBP1 LINC00896 TANGO2 MIR185 DGCR8 C22orf29 MIR3618 LOC284865 RTN4R
nsv471181 Chr.22:19729797 - 19815256 on Build GRCh38 Loss GNB1L TBX1
nsv953023 Chr.22:19716878 - 19770977 on Build GRCh38 Deletion GP1BB SEPT5 TBX1 SEPT5-GP1BB
nsv834128 Chr.22:19634627 - 19803975 on Build GRCh38 Loss GP1BB GNB1L SEPT5 TBX1 SEPT5-GP1BB
nsv828946 Chr.22:19753679 - 19768165 on Build GRCh38 Gain TBX1
esv2751940 Chr.22:19435727 - 19779259 on Build GRCh38 Gain GP1BB MRPL40 CDC45 SEPT5 TBX1 SEPT5-GP1BB LINC00895 UFD1L C22orf39 CLDN5
esv3575418 Chr.22:18161776 - 19963846 on Build GRCh38 Gain GP1BB PI4KAP1 FAM230A MRPL40 CDC45 DGCR6 TBX1 CLTCL1 SEPT5-GP1BB UFD1L GSC2 USP18 LOC102725072 C22orf39 TSSK2 MIR4761 RIMBP3 DGCR10 GNB1L SEPT5 COMT DGCR5 DGCR2 TXNRD2 LOC100996415 LOC642643 DGCR9 SLC25A1 LOC100996401 LOC100996432 GGT3P LINC00895 DGCR14 LOC729461 TMEM191B CLDN5 C22orf29 HIRA LINC01311 PRODH DGCR11

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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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