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 Exon 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 | |||
XM_011529886.1 | XP_011528188.1 | |||
XM_017028594.1 | 3 | 322 | XP_016884083.1 | |
XM_017028595.1 | 3 | 266 | 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 | |||
EF103916.1 | ||||
EF103917.1 | 2 | 172 | ||
EF103918.1 | ||||
EF103920.1 | ||||
EF103921.1 | ||||
EF103922.1 | ||||
FJ224345.1 | ||||
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 |
---|---|---|---|
esv3568271 | Chr.22:19962193 - 19966868 on Build GRCh38 | Loss | MIR4761 COMT ARVCF |
esv3584493 | Chr.22:19954404 - 19991035 on Build GRCh38 | Gain | MIR4761 COMT ARVCF |
nsv953026 | Chr.22:19950978 - 20070877 on Build GRCh38 | Deletion | MIR4761 COMT ARVCF MIR185 TANGO2 |
nsv1055752 | Chr.22:19960814 - 20013499 on Build GRCh38 | Gain | MIR4761 COMT ARVCF |
esv3893434 | Chr.22:19470889 - 20343372 on Build GRCh38 | Gain | DGCR6L MIR4761 LINC00895 LINC00896 CDC45 MIR185 C22orf29 GP1BB TANGO2 LOC101927859 MIR1306 GNB1L TXNRD2 CLDN5 TBX1 MIR3618 LOC284865 TRMT2A LOC440792 RANBP1 MIR6816 UFD1L SEPT5-GP1BB MIR1286 COMT ARVCF CCDC188 ZDHHC8 SEPT5 RTN4R DGCR8 |
nsv828939 | Chr.22:19696032 - 20324465 on Build GRCh38 | Loss | DGCR6L MIR4761 LINC00896 MIR185 C22orf29 GP1BB TANGO2 MIR1306 GNB1L TXNRD2 TBX1 MIR3618 LOC284865 TRMT2A LOC440792 RANBP1 MIR6816 SEPT5-GP1BB MIR1286 COMT ARVCF CCDC188 ZDHHC8 SEPT5 RTN4R DGCR8 |
nsv828938 | Chr.22:19691069 - 20324465 on Build GRCh38 | Gain | DGCR6L MIR4761 LINC00896 MIR185 C22orf29 GP1BB TANGO2 MIR1306 GNB1L TXNRD2 TBX1 MIR3618 LOC284865 TRMT2A LOC440792 RANBP1 MIR6816 SEPT5-GP1BB MIR1286 COMT ARVCF CCDC188 ZDHHC8 SEPT5 RTN4R DGCR8 |
esv3647280 | Chr.22:19901541 - 19962814 on Build GRCh38 | Gain | COMT TXNRD2 |
nsv469641 | Chr.22:19891662 - 20067735 on Build GRCh38 | Loss | MIR4761 COMT TXNRD2 ARVCF MIR185 TANGO2 |
dgv72n68 | Chr.22:19891663 - 20082447 on Build GRCh38 | Loss | MIR4761 COMT TXNRD2 ARVCF MIR185 TANGO2 DGCR8 |
dgv7983n54 | Chr.22:19762002 - 20321870 on Build GRCh38 | Gain | DGCR6L MIR4761 LINC00896 TBX1 MIR3618 LOC284865 TRMT2A LOC440792 RANBP1 MIR6816 MIR185 C22orf29 TANGO2 MIR1306 GNB1L MIR1286 COMT TXNRD2 ARVCF CCDC188 ZDHHC8 RTN4R DGCR8 |
esv3575418 | Chr.22:18161776 - 19963846 on Build GRCh38 | Gain | LOC100996401 MIR4761 TSSK2 LINC00895 CDC45 PI4KAP1 C22orf29 GP1BB MRPL40 GNB1L DGCR14 DGCR11 TXNRD2 DGCR9 CLTCL1 LOC642643 CLDN5 HIRA C22orf39 PRODH TBX1 DGCR6 GGT3P TMEM191B GSC2 DGCR10 DGCR2 LOC100996415 LINC01311 FAM230A UFD1L LOC100996432 SEPT5-GP1BB DGCR5 SLC25A1 COMT RIMBP3 USP18 LOC729461 SEPT5 LOC102725072 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |