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 4 |
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 | |||
XM_017028594.1 | XP_016884083.1 | |||
XM_017028595.1 | XP_016884084.1 | |||
AK130031.1 | ||||
AK290440.1 | ||||
BC000419.2 | AAH00419.2 | |||
BC005867.2 | AAH05867.1 | |||
BC100018.1 | AAI00019.1 | |||
BE386545.1 | ||||
BE728779.1 | ||||
BX461394.2 | ||||
FJ224345.1 | ||||
M58525.1 | AAA68929.1 |
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 | COMT MIR4761 ARVCF |
nsv953026 | Chr.22:19950978 - 20070877 on Build GRCh38 | Deletion | TANGO2 COMT MIR185 MIR4761 ARVCF |
esv3893434 | Chr.22:19470889 - 20343372 on Build GRCh38 | Gain | C22orf29 COMT GNB1L RTN4R TXNRD2 CLDN5 TANGO2 LOC284865 SEPT5-GP1BB MIR185 DGCR8 UFD1L LINC00895 TRMT2A LINC00896 RANBP1 SEPT5 MIR1306 LOC440792 GP1BB CCDC188 CDC45 TBX1 MIR6816 DGCR6L ZDHHC8 MIR1286 MIR4761 LOC101927859 MIR3618 ARVCF |
nsv828939 | Chr.22:19696032 - 20324465 on Build GRCh38 | Loss | C22orf29 COMT GNB1L RTN4R TXNRD2 TANGO2 LOC284865 SEPT5-GP1BB MIR185 DGCR8 TRMT2A LINC00896 RANBP1 SEPT5 MIR1306 LOC440792 GP1BB CCDC188 TBX1 MIR6816 DGCR6L ZDHHC8 MIR1286 MIR4761 MIR3618 ARVCF |
nsv828938 | Chr.22:19691069 - 20324465 on Build GRCh38 | Gain | C22orf29 COMT GNB1L RTN4R TXNRD2 TANGO2 LOC284865 SEPT5-GP1BB MIR185 DGCR8 TRMT2A LINC00896 RANBP1 SEPT5 MIR1306 LOC440792 GP1BB CCDC188 TBX1 MIR6816 DGCR6L ZDHHC8 MIR1286 MIR4761 MIR3618 ARVCF |
esv3647280 | Chr.22:19901541 - 19962814 on Build GRCh38 | Gain | COMT TXNRD2 |
nsv469641 | Chr.22:19891662 - 20067735 on Build GRCh38 | Loss | TANGO2 COMT MIR185 MIR4761 TXNRD2 ARVCF |
dgv72n68 | Chr.22:19891663 - 20082447 on Build GRCh38 | Loss | TANGO2 COMT MIR185 DGCR8 MIR4761 TXNRD2 ARVCF |
dgv7983n54 | Chr.22:19762002 - 20321870 on Build GRCh38 | Gain | C22orf29 TRMT2A LINC00896 RANBP1 COMT GNB1L MIR1306 LOC440792 RTN4R TXNRD2 TANGO2 CCDC188 LOC284865 TBX1 MIR185 DGCR8 MIR6816 DGCR6L ZDHHC8 MIR1286 MIR4761 MIR3618 ARVCF |
esv3575418 | Chr.22:18161776 - 19963846 on Build GRCh38 | Gain | TMEM191B C22orf39 C22orf29 COMT LOC102725072 GNB1L LOC729461 SLC25A1 TXNRD2 DGCR11 CLDN5 MRPL40 GSC2 GGT3P HIRA SEPT5-GP1BB LOC100996432 DGCR6 UFD1L LOC100996401 LINC00895 DGCR5 TSSK2 CLTCL1 LOC100996415 DGCR9 SEPT5 RIMBP3 LINC01311 DGCR14 LOC642643 DGCR10 PRODH GP1BB FAM230A PI4KAP1 USP18 CDC45 TBX1 DGCR2 MIR4761 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |