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

Chr.22:19765771 on build GRCh38
Cytoband
22q11.21
Assay ID Hs00856599_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 Intron 7 - Intron 8
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_017028927.1 XP_016884416.1
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 RANBP1 MIR1286 LOC440792 MIR185 MIR6816 ZDHHC8 TRMT2A TXNRD2 UFD1L LINC00896 CCDC188 RTN4R DGCR6L C22orf29 TBX1 SEPT5 LOC101927859 MIR4761 MIR1306 CLDN5 MIR3618 DGCR8 LINC00895 GP1BB CDC45 SEPT5-GP1BB COMT TANGO2 LOC284865 ARVCF GNB1L
nsv828938 Chr.22:19691069 - 20324465 on Build GRCh38 Gain RANBP1 MIR1286 LOC440792 MIR185 MIR6816 ZDHHC8 TRMT2A TXNRD2 LINC00896 CCDC188 RTN4R DGCR6L C22orf29 TBX1 SEPT5 MIR4761 MIR1306 MIR3618 DGCR8 GP1BB SEPT5-GP1BB COMT TANGO2 LOC284865 ARVCF GNB1L
dgv7982n54 Chr.22:19750832 - 19770876 on Build GRCh38 Loss TBX1
nsv828943 Chr.22:19720750 - 19797550 on Build GRCh38 Loss SEPT5-GP1BB GP1BB GNB1L TBX1 SEPT5
esv3647279 Chr.22:19719848 - 19878980 on Build GRCh38 Gain SEPT5-GP1BB C22orf29 GP1BB GNB1L TXNRD2 TBX1 SEPT5
dgv7983n54 Chr.22:19762002 - 20321870 on Build GRCh38 Gain MIR4761 MIR1306 RANBP1 MIR1286 LOC440792 MIR185 MIR3618 DGCR8 MIR6816 ZDHHC8 TRMT2A TXNRD2 LINC00896 CCDC188 RTN4R COMT DGCR6L C22orf29 TANGO2 LOC284865 ARVCF GNB1L TBX1
nsv588216 Chr.22:19086099 - 19839117 on Build GRCh38 Gain SLC25A1 CLDN5 TSSK2 LINC00895 C22orf39 CLTCL1 GP1BB DGCR14 CDC45 LINC01311 UFD1L SEPT5-GP1BB HIRA MRPL40 GSC2 DGCR2 GNB1L TBX1 SEPT5
esv3575428 Chr.22:19732005 - 19767158 on Build GRCh38 Gain TBX1
nsv834129 Chr.22:19705617 - 19919068 on Build GRCh38 Loss SEPT5-GP1BB C22orf29 GP1BB GNB1L TXNRD2 TBX1 SEPT5
nsv517478 Chr.22:19703979 - 19817740 on Build GRCh38 Loss SEPT5-GP1BB GP1BB GNB1L TBX1 SEPT5
dgv725n67 Chr.22:19711970 - 19797426 on Build GRCh38 Gain SEPT5-GP1BB GP1BB GNB1L TBX1 SEPT5
nsv828939 Chr.22:19696032 - 20324465 on Build GRCh38 Loss RANBP1 MIR1286 LOC440792 MIR185 MIR6816 ZDHHC8 TRMT2A TXNRD2 LINC00896 CCDC188 RTN4R DGCR6L C22orf29 TBX1 SEPT5 MIR4761 MIR1306 MIR3618 DGCR8 GP1BB SEPT5-GP1BB COMT TANGO2 LOC284865 ARVCF GNB1L
nsv471181 Chr.22:19729797 - 19815256 on Build GRCh38 Loss GNB1L TBX1
nsv953023 Chr.22:19716878 - 19770977 on Build GRCh38 Deletion SEPT5-GP1BB GP1BB TBX1 SEPT5
nsv834128 Chr.22:19634627 - 19803975 on Build GRCh38 Loss SEPT5-GP1BB GP1BB GNB1L TBX1 SEPT5
nsv828946 Chr.22:19753679 - 19768165 on Build GRCh38 Gain TBX1
esv2751940 Chr.22:19435727 - 19779259 on Build GRCh38 Gain SEPT5-GP1BB CLDN5 MRPL40 LINC00895 C22orf39 GP1BB CDC45 TBX1 SEPT5 UFD1L
esv3575418 Chr.22:18161776 - 19963846 on Build GRCh38 Gain GGT3P PRODH LOC729461 LOC100996415 C22orf39 CLTCL1 LOC100996432 DGCR10 TXNRD2 UFD1L LOC642643 MRPL40 C22orf29 LOC100996401 DGCR2 DGCR5 TBX1 SEPT5 DGCR6 MIR4761 SLC25A1 CLDN5 TSSK2 FAM230A LINC00895 GP1BB DGCR14 PI4KAP1 CDC45 LINC01311 RIMBP3 DGCR9 USP18 SEPT5-GP1BB HIRA LOC102725072 COMT DGCR11 GSC2 GNB1L 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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