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Gene Symbol
TBX1
Assay Reference Genome
Location

Chr.22:19761207 on build GRCh38
Cytoband
22q11.21
Assay ID Hs02053540_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 Exon 4
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
TBX1 NM_005992.1 3 466 NP_005983.1
NM_080646.1 3 466 NP_542377.1
NM_080647.1 3 466 NP_542378.1
XM_006724312.2 3 635 XP_006724375.1
XM_017028925.1 2 511 XP_016884414.1
XM_017028926.1 3 601 XP_016884415.1
XM_017028928.1 2 510 XP_016884417.1
AF012130.1 3 466 AAB94018.1
AF012131.1 3 466 AAB94019.1
AF373867.1 3 466 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 LOC101927859 MIR1286 GP1BB LOC440792 RANBP1 SEPT5-GP1BB SEPT5 ARVCF ZDHHC8 RTN4R TRMT2A MIR185 UFD1L CLDN5 TANGO2 DGCR6L TBX1 MIR6816 CCDC188 CDC45 MIR3618 DGCR8 MIR4761 LOC284865 LINC00896 LINC00895 C22orf29 GNB1L COMT MIR1306 TXNRD2
nsv828938 Chr.22:19691069 - 20324465 on Build GRCh38 Gain MIR1286 GP1BB LOC440792 RANBP1 SEPT5-GP1BB SEPT5 ARVCF ZDHHC8 RTN4R TRMT2A MIR185 TANGO2 DGCR6L TBX1 MIR6816 CCDC188 MIR3618 DGCR8 MIR4761 LOC284865 LINC00896 C22orf29 GNB1L COMT MIR1306 TXNRD2
dgv7982n54 Chr.22:19750832 - 19770876 on Build GRCh38 Loss TBX1
nsv588236 Chr.22:19760658 - 19761382 on Build GRCh38 Loss 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 C22orf29 SEPT5-GP1BB GNB1L SEPT5 TXNRD2 TBX1
esv21705 Chr.22:19760531 - 19761447 on Build GRCh38 Loss TBX1
nsv588216 Chr.22:19086099 - 19839117 on Build GRCh38 Gain GP1BB DGCR14 SEPT5-GP1BB CDC45 CLTCL1 LINC01311 SEPT5 GSC2 LINC00895 GNB1L TSSK2 UFD1L HIRA C22orf39 CLDN5 MRPL40 DGCR2 SLC25A1 TBX1
esv3575428 Chr.22:19732005 - 19767158 on Build GRCh38 Gain TBX1
nsv834129 Chr.22:19705617 - 19919068 on Build GRCh38 Loss GP1BB C22orf29 SEPT5-GP1BB GNB1L SEPT5 TXNRD2 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 MIR1286 GP1BB LOC440792 RANBP1 SEPT5-GP1BB SEPT5 ARVCF ZDHHC8 RTN4R TRMT2A MIR185 TANGO2 DGCR6L TBX1 MIR6816 CCDC188 MIR3618 DGCR8 MIR4761 LOC284865 LINC00896 C22orf29 GNB1L COMT MIR1306 TXNRD2
nsv471181 Chr.22:19729797 - 19815256 on Build GRCh38 Loss GNB1L TBX1
nsv953023 Chr.22:19716878 - 19770977 on Build GRCh38 Deletion GP1BB SEPT5-GP1BB SEPT5 TBX1
nsv834128 Chr.22:19634627 - 19803975 on Build GRCh38 Loss GP1BB SEPT5-GP1BB GNB1L SEPT5 TBX1
nsv828946 Chr.22:19753679 - 19768165 on Build GRCh38 Gain TBX1
esv2751940 Chr.22:19435727 - 19779259 on Build GRCh38 Gain LINC00895 GP1BB SEPT5-GP1BB CDC45 UFD1L SEPT5 C22orf39 CLDN5 MRPL40 TBX1
esv3575418 Chr.22:18161776 - 19963846 on Build GRCh38 Gain LOC729461 GP1BB DGCR5 SEPT5-GP1BB USP18 CLTCL1 LOC100996432 SEPT5 LOC102725072 LOC642643 GSC2 RIMBP3 DGCR6 DGCR11 UFD1L HIRA FAM230A TMEM191B CLDN5 TBX1 LOC100996415 PI4KAP1 DGCR9 DGCR14 LOC100996401 CDC45 LINC01311 DGCR10 PRODH MIR4761 LINC00895 C22orf29 GNB1L TSSK2 COMT GGT3P C22orf39 TXNRD2 MRPL40 DGCR2 SLC25A1
nsv588235 Chr.22:19757169 - 19762002 on Build GRCh38 Loss TBX1

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More Information


Set Membership:

 Intragenic Exonic DGV Variation

Panther Classification:

Gene Ontology Categories:

Function(s) Process(es)


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