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

Chr.22:19963315 on build GRCh38
Cytoband
22q11.21
Assay ID Hs04080589_cn
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Catalog # 4400291
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Assay Details

Target Gene Details

Entrez Gene ID:

 1312

Gene Name:

 catechol-O-methyltransferase

Gene Aliases:

 HEL-S-98n

Location:

 Chr.22:19941740-19969975 on Build GRCh38

Assay Gene Location:

 Within Intron 7
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
COMT NM_000754.3 NP_000745.1
NM_001135161.1 NP_001128633.1
NM_001135162.1 NP_001128634.1
NM_007310.2 NP_009294.1
XM_011529886.1 XP_011528188.1
XM_017028594.1 XP_016884083.1
XM_017028595.1 XP_016884084.1
AK130031.1
AK290440.1
BC000419.2 AAH00419.2
BC005867.2 AAH05867.1
BC011935.2 AAH11935.1
BC100018.1 AAI00019.1
BE386545.1
BE728779.1
BX461394.2
CR456422.1 CAG30308.1
CR456997.1 CAG33278.1
EF103918.1
EF103920.1
EF103921.1
EF103922.1
EF212883.1
EF217321.1
EF217322.1
FJ224345.1
FJ410131.1
FJ410132.1
M58525.1 AAA68929.1
M65212.1 AAA68927.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
esv3584493 Chr.22:19954404 - 19991035 on Build GRCh38 Gain MIR4761 COMT ARVCF
esv3568271 Chr.22:19962193 - 19966868 on Build GRCh38 Loss MIR4761 COMT ARVCF
esv3893434 Chr.22:19470889 - 20343372 on Build GRCh38 Gain UFD1L ZDHHC8 CDC45 TANGO2 C22orf29 MIR3618 MIR4761 RTN4R TXNRD2 LOC284865 MIR6816 LOC440792 MIR185 TBX1 COMT ARVCF SEPT5 GP1BB CLDN5 TRMT2A RANBP1 LINC00896 GNB1L LINC00895 MIR1306 DGCR6L DGCR8 SEPT5-GP1BB CCDC188 MIR1286 LOC101927859
nsv1064496 Chr.22:19960814 - 19991035 on Build GRCh38 Gain MIR4761 COMT ARVCF
nsv828938 Chr.22:19691069 - 20324465 on Build GRCh38 Gain ZDHHC8 TANGO2 C22orf29 MIR3618 MIR4761 RTN4R TXNRD2 LOC284865 MIR6816 LOC440792 MIR185 TBX1 COMT ARVCF SEPT5 GP1BB TRMT2A RANBP1 LINC00896 GNB1L MIR1306 DGCR6L DGCR8 SEPT5-GP1BB CCDC188 MIR1286
nsv469641 Chr.22:19891662 - 20067735 on Build GRCh38 Loss TXNRD2 MIR185 TANGO2 MIR4761 COMT ARVCF
dgv72n68 Chr.22:19891663 - 20082447 on Build GRCh38 Loss TXNRD2 MIR185 TANGO2 MIR4761 COMT ARVCF DGCR8
dgv7983n54 Chr.22:19762002 - 20321870 on Build GRCh38 Gain ZDHHC8 TRMT2A RANBP1 LINC00896 GNB1L TANGO2 C22orf29 MIR1306 MIR3618 MIR4761 DGCR6L DGCR8 RTN4R TXNRD2 CCDC188 LOC284865 MIR6816 LOC440792 MIR185 MIR1286 TBX1 COMT ARVCF
nsv953026 Chr.22:19950978 - 20070877 on Build GRCh38 Deletion MIR185 TANGO2 MIR4761 COMT ARVCF
nsv828939 Chr.22:19696032 - 20324465 on Build GRCh38 Loss ZDHHC8 TANGO2 C22orf29 MIR3618 MIR4761 RTN4R TXNRD2 LOC284865 MIR6816 LOC440792 MIR185 TBX1 COMT ARVCF SEPT5 GP1BB TRMT2A RANBP1 LINC00896 GNB1L MIR1306 DGCR6L DGCR8 SEPT5-GP1BB CCDC188 MIR1286
nsv588240 Chr.22:19962740 - 19965038 on Build GRCh38 Loss MIR4761 COMT
nsv517165 Chr.22:19962905 - 19999679 on Build GRCh38 Loss MIR4761 COMT ARVCF
esv3575418 Chr.22:18161776 - 19963846 on Build GRCh38 Gain UFD1L C22orf39 CLTCL1 CDC45 C22orf29 DGCR9 MIR4761 LOC100996415 MRPL40 LOC729461 TXNRD2 LOC100996401 LOC100996432 DGCR5 GGT3P SLC25A1 TBX1 DGCR10 COMT SEPT5 GP1BB DGCR11 CLDN5 DGCR14 USP18 PRODH FAM230A LINC01311 GNB1L DGCR6 LINC00895 LOC102725072 DGCR2 SEPT5-GP1BB GSC2 PI4KAP1 HIRA TMEM191B TSSK2 LOC642643 RIMBP3

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