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Gene Symbol
TBX1
Assay Reference Genome
Location

Chr.22:19764296 on build GRCh38
Cytoband
22q11.21
Assay ID Hs02374030_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 6
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
TBX1 NM_005992.1 5 783 NP_005983.1
NM_080646.1 5 783 NP_542377.1
NM_080647.1 5 783 NP_542378.1
XM_006724312.2 5 952 XP_006724375.1
XM_017028925.1 4 828 XP_016884414.1
XM_017028926.1 5 918 XP_016884415.1
XM_017028928.1 4 827 XP_016884417.1
AF012130.1 5 783 AAB94018.1
AF012131.1 5 783 AAB94019.1
AF373867.1 5 783 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 LINC00896 SEPT5 COMT MIR185 UFD1L GP1BB TANGO2 DGCR6L MIR1306 LOC284865 TXNRD2 ARVCF SEPT5-GP1BB DGCR8 MIR6816 MIR1286 MIR4761 C22orf29 ZDHHC8 TBX1 CLDN5 RANBP1 RTN4R GNB1L CCDC188 MIR3618 LOC101927859 LINC00895 TRMT2A LOC440792 CDC45
nsv828938 Chr.22:19691069 - 20324465 on Build GRCh38 Gain LINC00896 SEPT5 COMT MIR185 GP1BB TANGO2 DGCR6L MIR1306 LOC284865 TXNRD2 ARVCF SEPT5-GP1BB DGCR8 MIR6816 MIR1286 MIR4761 C22orf29 ZDHHC8 TBX1 RANBP1 RTN4R GNB1L CCDC188 MIR3618 TRMT2A LOC440792
dgv7982n54 Chr.22:19750832 - 19770876 on Build GRCh38 Loss TBX1
nsv828943 Chr.22:19720750 - 19797550 on Build GRCh38 Loss GNB1L SEPT5-GP1BB SEPT5 TBX1 GP1BB
esv3647279 Chr.22:19719848 - 19878980 on Build GRCh38 Gain GNB1L SEPT5-GP1BB SEPT5 C22orf29 TBX1 TXNRD2 GP1BB
dgv7983n54 Chr.22:19762002 - 20321870 on Build GRCh38 Gain DGCR8 MIR6816 MIR1286 MIR4761 LINC00896 C22orf29 ZDHHC8 TBX1 COMT MIR185 TANGO2 RANBP1 RTN4R GNB1L CCDC188 MIR3618 DGCR6L MIR1306 LOC284865 TRMT2A TXNRD2 ARVCF LOC440792
nsv588216 Chr.22:19086099 - 19839117 on Build GRCh38 Gain SEPT5-GP1BB SEPT5 SLC25A1 CLTCL1 TBX1 MRPL40 TSSK2 CLDN5 C22orf39 UFD1L GP1BB GNB1L GSC2 LINC00895 DGCR2 DGCR14 LINC01311 HIRA CDC45
esv3575428 Chr.22:19732005 - 19767158 on Build GRCh38 Gain TBX1
nsv834129 Chr.22:19705617 - 19919068 on Build GRCh38 Loss GNB1L SEPT5-GP1BB SEPT5 C22orf29 TBX1 TXNRD2 GP1BB
nsv517478 Chr.22:19703979 - 19817740 on Build GRCh38 Loss GNB1L SEPT5-GP1BB SEPT5 TBX1 GP1BB
nsv828947 Chr.22:19761471 - 19765098 on Build GRCh38 Gain TBX1
dgv725n67 Chr.22:19711970 - 19797426 on Build GRCh38 Gain GNB1L SEPT5-GP1BB SEPT5 TBX1 GP1BB
nsv828939 Chr.22:19696032 - 20324465 on Build GRCh38 Loss LINC00896 SEPT5 COMT MIR185 GP1BB TANGO2 DGCR6L MIR1306 LOC284865 TXNRD2 ARVCF SEPT5-GP1BB DGCR8 MIR6816 MIR1286 MIR4761 C22orf29 ZDHHC8 TBX1 RANBP1 RTN4R GNB1L CCDC188 MIR3618 TRMT2A LOC440792
nsv471181 Chr.22:19729797 - 19815256 on Build GRCh38 Loss GNB1L TBX1
nsv953023 Chr.22:19716878 - 19770977 on Build GRCh38 Deletion SEPT5-GP1BB SEPT5 TBX1 GP1BB
nsv834128 Chr.22:19634627 - 19803975 on Build GRCh38 Loss GNB1L SEPT5-GP1BB SEPT5 TBX1 GP1BB
nsv828946 Chr.22:19753679 - 19768165 on Build GRCh38 Gain TBX1
esv2751940 Chr.22:19435727 - 19779259 on Build GRCh38 Gain SEPT5-GP1BB SEPT5 LINC00895 TBX1 MRPL40 CLDN5 C22orf39 UFD1L GP1BB CDC45
esv3575418 Chr.22:18161776 - 19963846 on Build GRCh38 Gain DGCR5 LOC102725072 SEPT5 SLC25A1 COMT DGCR9 PRODH UFD1L GP1BB LOC642643 GGT3P TXNRD2 DGCR14 LINC01311 LOC100996401 HIRA DGCR6 SEPT5-GP1BB DGCR11 MIR4761 C22orf29 CLTCL1 TBX1 MRPL40 TSSK2 CLDN5 C22orf39 LOC100996415 TMEM191B GNB1L PI4KAP1 USP18 RIMBP3 FAM230A GSC2 LINC00895 DGCR10 DGCR2 LOC100996432 LOC729461 CDC45

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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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