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: | Overlaps Intron 8 - Exon 9 |
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 | |||
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 |
---|---|---|---|
esv3568271 | Chr.22:19962193 - 19966868 on Build GRCh38 | Loss | COMT MIR4761 ARVCF |
esv3584493 | Chr.22:19954404 - 19991035 on Build GRCh38 | Gain | COMT MIR4761 ARVCF |
nsv1055752 | Chr.22:19960814 - 20013499 on Build GRCh38 | Gain | COMT MIR4761 ARVCF |
esv3893434 | Chr.22:19470889 - 20343372 on Build GRCh38 | Gain | MIR1286 UFD1L MIR185 LOC440792 GNB1L LOC284865 MIR4761 GP1BB MIR6816 TRMT2A C22orf29 TANGO2 COMT LINC00896 TXNRD2 RANBP1 CLDN5 CDC45 ZDHHC8 TBX1 SEPT5 SEPT5-GP1BB ARVCF RTN4R DGCR6L DGCR8 CCDC188 LINC00895 MIR3618 LOC101927859 MIR1306 |
nsv828938 | Chr.22:19691069 - 20324465 on Build GRCh38 | Gain | MIR1286 MIR185 LOC440792 GNB1L LOC284865 MIR4761 GP1BB MIR6816 TRMT2A C22orf29 TANGO2 COMT LINC00896 TXNRD2 RANBP1 ZDHHC8 TBX1 SEPT5 SEPT5-GP1BB ARVCF RTN4R DGCR6L DGCR8 CCDC188 MIR3618 MIR1306 |
nsv469641 | Chr.22:19891662 - 20067735 on Build GRCh38 | Loss | MIR185 TANGO2 COMT TXNRD2 MIR4761 ARVCF |
dgv72n68 | Chr.22:19891663 - 20082447 on Build GRCh38 | Loss | MIR185 DGCR8 TANGO2 COMT TXNRD2 MIR4761 ARVCF |
dgv7983n54 | Chr.22:19762002 - 20321870 on Build GRCh38 | Gain | MIR1286 MIR185 LOC440792 GNB1L ZDHHC8 LOC284865 MIR4761 MIR6816 TBX1 TRMT2A ARVCF C22orf29 RTN4R DGCR6L DGCR8 TANGO2 CCDC188 MIR3618 COMT LINC00896 TXNRD2 RANBP1 MIR1306 |
nsv953026 | Chr.22:19950978 - 20070877 on Build GRCh38 | Deletion | MIR185 TANGO2 COMT MIR4761 ARVCF |
nsv828939 | Chr.22:19696032 - 20324465 on Build GRCh38 | Loss | MIR1286 MIR185 LOC440792 GNB1L LOC284865 MIR4761 GP1BB MIR6816 TRMT2A C22orf29 TANGO2 COMT LINC00896 TXNRD2 RANBP1 ZDHHC8 TBX1 SEPT5 SEPT5-GP1BB ARVCF RTN4R DGCR6L DGCR8 CCDC188 MIR3618 MIR1306 |
nsv588240 | Chr.22:19962740 - 19965038 on Build GRCh38 | Loss | COMT MIR4761 |
nsv517165 | Chr.22:19962905 - 19999679 on Build GRCh38 | Loss | COMT MIR4761 ARVCF |
esv3568270 | Chr.22:19963847 - 19966728 on Build GRCh38 | Loss | COMT ARVCF |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |