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

Chr.22:19773342 on build GRCh38
Cytoband
22q11.21
Assay ID Hs04093856_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 10
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
TBX1 NM_005992.1 NP_005983.1
NM_080646.1 NP_542377.1
XM_017028928.1 XP_016884417.1
AF012130.1 AAB94018.1
AF012131.1 AAB94019.1

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 SEPT5 GP1BB ARVCF SEPT5-GP1BB MIR1306 TRMT2A LOC284865 GNB1L MIR4761 MIR185 DGCR6L CCDC188 LOC101927859 MIR6816 C22orf29 TXNRD2 ZDHHC8 MIR3618 LINC00895 DGCR8 MIR1286 CDC45 CLDN5 LINC00896 RTN4R COMT RANBP1 TBX1 TANGO2 LOC440792 UFD1L
nsv828938 Chr.22:19691069 - 20324465 on Build GRCh38 Gain SEPT5 GP1BB ARVCF SEPT5-GP1BB MIR1306 TRMT2A LOC284865 GNB1L MIR4761 MIR185 DGCR6L CCDC188 MIR6816 C22orf29 TXNRD2 ZDHHC8 MIR3618 DGCR8 MIR1286 LINC00896 RTN4R COMT RANBP1 TBX1 TANGO2 LOC440792
nsv828943 Chr.22:19720750 - 19797550 on Build GRCh38 Loss SEPT5 GP1BB SEPT5-GP1BB TBX1 GNB1L
esv3647279 Chr.22:19719848 - 19878980 on Build GRCh38 Gain SEPT5 GP1BB SEPT5-GP1BB TBX1 C22orf29 GNB1L TXNRD2
dgv7983n54 Chr.22:19762002 - 20321870 on Build GRCh38 Gain MIR3618 DGCR8 ARVCF MIR1306 MIR1286 LINC00896 TRMT2A LOC284865 RTN4R GNB1L MIR4761 COMT MIR185 DGCR6L CCDC188 RANBP1 MIR6816 TBX1 TANGO2 C22orf29 TXNRD2 ZDHHC8 LOC440792
nsv588216 Chr.22:19086099 - 19839117 on Build GRCh38 Gain LINC00895 TSSK2 SEPT5 GP1BB SEPT5-GP1BB CDC45 CLDN5 DGCR14 MRPL40 GNB1L DGCR2 CLTCL1 SLC25A1 HIRA LINC01311 GSC2 TBX1 C22orf39 UFD1L
nsv834129 Chr.22:19705617 - 19919068 on Build GRCh38 Loss SEPT5 GP1BB SEPT5-GP1BB TBX1 C22orf29 GNB1L TXNRD2
nsv517478 Chr.22:19703979 - 19817740 on Build GRCh38 Loss SEPT5 GP1BB SEPT5-GP1BB TBX1 GNB1L
dgv725n67 Chr.22:19711970 - 19797426 on Build GRCh38 Gain SEPT5 GP1BB SEPT5-GP1BB TBX1 GNB1L
nsv828939 Chr.22:19696032 - 20324465 on Build GRCh38 Loss SEPT5 GP1BB ARVCF SEPT5-GP1BB MIR1306 TRMT2A LOC284865 GNB1L MIR4761 MIR185 DGCR6L CCDC188 MIR6816 C22orf29 TXNRD2 ZDHHC8 MIR3618 DGCR8 MIR1286 LINC00896 RTN4R COMT RANBP1 TBX1 TANGO2 LOC440792
nsv471181 Chr.22:19729797 - 19815256 on Build GRCh38 Loss TBX1 GNB1L
nsv834128 Chr.22:19634627 - 19803975 on Build GRCh38 Loss SEPT5 GP1BB SEPT5-GP1BB TBX1 GNB1L
esv2751940 Chr.22:19435727 - 19779259 on Build GRCh38 Gain LINC00895 SEPT5 GP1BB SEPT5-GP1BB CDC45 CLDN5 MRPL40 TBX1 C22orf39 UFD1L
esv3575418 Chr.22:18161776 - 19963846 on Build GRCh38 Gain TSSK2 SEPT5 GP1BB SEPT5-GP1BB LOC729461 LOC100996415 LOC102725072 DGCR6 DGCR14 PRODH GNB1L MIR4761 DGCR2 SLC25A1 PI4KAP1 HIRA LOC100996432 LINC01311 C22orf29 DGCR10 TXNRD2 C22orf39 LOC642643 LINC00895 FAM230A DGCR5 CDC45 CLDN5 LOC100996401 DGCR9 MRPL40 GGT3P COMT CLTCL1 GSC2 TBX1 RIMBP3 USP18 DGCR11 UFD1L TMEM191B

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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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