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