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 5 |
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 | 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 | MIR4761 COMT ARVCF |
nsv953026 | Chr.22:19950978 - 20070877 on Build GRCh38 | Deletion | MIR4761 COMT MIR185 ARVCF TANGO2 |
esv3893434 | Chr.22:19470889 - 20343372 on Build GRCh38 | Gain | C22orf29 MIR6816 LOC284865 TXNRD2 SEPT5 DGCR6L MIR185 GNB1L MIR4761 DGCR8 SEPT5-GP1BB LINC00895 RANBP1 COMT LINC00896 LOC440792 MIR1306 CCDC188 TRMT2A ARVCF CLDN5 CDC45 UFD1L RTN4R MIR3618 TANGO2 LOC101927859 TBX1 GP1BB MIR1286 ZDHHC8 |
nsv828939 | Chr.22:19696032 - 20324465 on Build GRCh38 | Loss | C22orf29 MIR6816 LOC284865 TXNRD2 SEPT5 DGCR6L MIR185 GNB1L MIR4761 DGCR8 SEPT5-GP1BB RANBP1 COMT LINC00896 LOC440792 MIR1306 CCDC188 TRMT2A ARVCF RTN4R MIR3618 TANGO2 TBX1 GP1BB MIR1286 ZDHHC8 |
nsv828938 | Chr.22:19691069 - 20324465 on Build GRCh38 | Gain | C22orf29 MIR6816 LOC284865 TXNRD2 SEPT5 DGCR6L MIR185 GNB1L MIR4761 DGCR8 SEPT5-GP1BB RANBP1 COMT LINC00896 LOC440792 MIR1306 CCDC188 TRMT2A ARVCF RTN4R MIR3618 TANGO2 TBX1 GP1BB MIR1286 ZDHHC8 |
esv3647280 | Chr.22:19901541 - 19962814 on Build GRCh38 | Gain | TXNRD2 COMT |
nsv469641 | Chr.22:19891662 - 20067735 on Build GRCh38 | Loss | MIR4761 TXNRD2 COMT MIR185 ARVCF TANGO2 |
dgv72n68 | Chr.22:19891663 - 20082447 on Build GRCh38 | Loss | MIR4761 DGCR8 TXNRD2 COMT MIR185 ARVCF TANGO2 |
dgv7983n54 | Chr.22:19762002 - 20321870 on Build GRCh38 | Gain | C22orf29 RTN4R MIR6816 LOC284865 TXNRD2 DGCR6L MIR3618 MIR185 GNB1L TANGO2 MIR4761 DGCR8 TBX1 RANBP1 COMT LINC00896 MIR1286 LOC440792 MIR1306 CCDC188 TRMT2A ARVCF ZDHHC8 |
esv3575418 | Chr.22:18161776 - 19963846 on Build GRCh38 | Gain | LOC100996401 HIRA C22orf29 SLC25A1 TXNRD2 SEPT5 GNB1L DGCR11 RIMBP3 GGT3P C22orf39 DGCR9 MIR4761 CLTCL1 TMEM191B SEPT5-GP1BB LINC00895 COMT DGCR6 MRPL40 PRODH USP18 LOC642643 CLDN5 DGCR10 CDC45 UFD1L LOC100996432 LOC102725072 FAM230A LINC01311 PI4KAP1 LOC729461 DGCR5 TBX1 GP1BB DGCR2 GSC2 LOC100996415 DGCR14 TSSK2 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |