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 |
---|---|---|---|
esv3568271 | Chr.22:19962193 - 19966868 on Build GRCh38 | Loss | ARVCF COMT MIR4761 |
esv3584493 | Chr.22:19954404 - 19991035 on Build GRCh38 | Gain | ARVCF COMT MIR4761 |
nsv1055752 | Chr.22:19960814 - 20013499 on Build GRCh38 | Gain | ARVCF COMT MIR4761 |
esv3893434 | Chr.22:19470889 - 20343372 on Build GRCh38 | Gain | MIR6816 DGCR6L LINC00895 MIR1306 TRMT2A COMT CLDN5 LOC284865 CCDC188 MIR4761 GNB1L MIR3618 SEPT5 LOC440792 DGCR8 UFD1L MIR185 C22orf29 LINC00896 MIR1286 RANBP1 SEPT5-GP1BB ARVCF RTN4R ZDHHC8 TANGO2 TBX1 CDC45 GP1BB LOC101927859 TXNRD2 |
nsv828938 | Chr.22:19691069 - 20324465 on Build GRCh38 | Gain | MIR6816 DGCR6L MIR1306 TRMT2A COMT LOC284865 CCDC188 MIR4761 GNB1L MIR3618 SEPT5 LOC440792 DGCR8 MIR185 C22orf29 LINC00896 MIR1286 RANBP1 SEPT5-GP1BB ARVCF RTN4R ZDHHC8 TANGO2 TBX1 GP1BB TXNRD2 |
nsv469641 | Chr.22:19891662 - 20067735 on Build GRCh38 | Loss | ARVCF MIR185 COMT MIR4761 TANGO2 TXNRD2 |
dgv72n68 | Chr.22:19891663 - 20082447 on Build GRCh38 | Loss | ARVCF MIR185 COMT MIR4761 TANGO2 DGCR8 TXNRD2 |
dgv7983n54 | Chr.22:19762002 - 20321870 on Build GRCh38 | Gain | MIR6816 DGCR6L MIR185 MIR1306 TRMT2A C22orf29 COMT LINC00896 LOC284865 MIR1286 RANBP1 ARVCF CCDC188 RTN4R ZDHHC8 MIR4761 TANGO2 TBX1 GNB1L MIR3618 LOC440792 DGCR8 TXNRD2 |
nsv953026 | Chr.22:19950978 - 20070877 on Build GRCh38 | Deletion | ARVCF MIR185 COMT MIR4761 TANGO2 |
nsv828939 | Chr.22:19696032 - 20324465 on Build GRCh38 | Loss | MIR6816 DGCR6L MIR1306 TRMT2A COMT LOC284865 CCDC188 MIR4761 GNB1L MIR3618 SEPT5 LOC440792 DGCR8 MIR185 C22orf29 LINC00896 MIR1286 RANBP1 SEPT5-GP1BB ARVCF RTN4R ZDHHC8 TANGO2 TBX1 GP1BB TXNRD2 |
nsv588240 | Chr.22:19962740 - 19965038 on Build GRCh38 | Loss | COMT MIR4761 |
nsv517165 | Chr.22:19962905 - 19999679 on Build GRCh38 | Loss | ARVCF COMT MIR4761 |
esv3575418 | Chr.22:18161776 - 19963846 on Build GRCh38 | Gain | PI4KAP1 LINC00895 CLTCL1 COMT USP18 HIRA CLDN5 LINC01311 MRPL40 LOC100996401 MIR4761 FAM230A GNB1L DGCR14 SEPT5 DGCR2 TMEM191B GSC2 UFD1L DGCR5 C22orf29 DGCR6 LOC100996415 DGCR9 GGT3P SEPT5-GP1BB SLC25A1 LOC100996432 TBX1 TSSK2 PRODH CDC45 GP1BB LOC102725072 LOC729461 LOC642643 C22orf39 RIMBP3 DGCR10 DGCR11 TXNRD2 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |