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 |
---|---|---|---|
esv3584493 | Chr.22:19954404 - 19991035 on Build GRCh38 | Gain | ARVCF COMT MIR4761 |
nsv953026 | Chr.22:19950978 - 20070877 on Build GRCh38 | Deletion | ARVCF MIR185 COMT MIR4761 TANGO2 |
esv3893434 | Chr.22:19470889 - 20343372 on Build GRCh38 | Gain | ARVCF C22orf29 CDC45 MIR185 GP1BB DGCR8 MIR1306 LINC00896 LINC00895 RANBP1 MIR6816 LOC284865 CLDN5 TANGO2 TRMT2A SEPT5 DGCR6L MIR1286 MIR3618 LOC440792 COMT SEPT5-GP1BB RTN4R ZDHHC8 LOC101927859 TXNRD2 CCDC188 GNB1L TBX1 UFD1L MIR4761 |
nsv828939 | Chr.22:19696032 - 20324465 on Build GRCh38 | Loss | ARVCF C22orf29 MIR185 GP1BB DGCR8 MIR1306 LINC00896 RANBP1 MIR6816 LOC284865 TANGO2 TRMT2A SEPT5 DGCR6L MIR1286 MIR3618 LOC440792 COMT SEPT5-GP1BB RTN4R ZDHHC8 TXNRD2 CCDC188 GNB1L TBX1 MIR4761 |
nsv828938 | Chr.22:19691069 - 20324465 on Build GRCh38 | Gain | ARVCF C22orf29 MIR185 GP1BB DGCR8 MIR1306 LINC00896 RANBP1 MIR6816 LOC284865 TANGO2 TRMT2A SEPT5 DGCR6L MIR1286 MIR3618 LOC440792 COMT SEPT5-GP1BB RTN4R ZDHHC8 TXNRD2 CCDC188 GNB1L TBX1 MIR4761 |
esv3647280 | Chr.22:19901541 - 19962814 on Build GRCh38 | Gain | TXNRD2 COMT |
nsv469641 | Chr.22:19891662 - 20067735 on Build GRCh38 | Loss | ARVCF TXNRD2 MIR185 COMT MIR4761 TANGO2 |
dgv72n68 | Chr.22:19891663 - 20082447 on Build GRCh38 | Loss | ARVCF TXNRD2 MIR185 COMT DGCR8 MIR4761 TANGO2 |
dgv7983n54 | Chr.22:19762002 - 20321870 on Build GRCh38 | Gain | ARVCF DGCR6L C22orf29 MIR1286 MIR185 MIR3618 LOC440792 COMT DGCR8 MIR1306 LINC00896 RTN4R ZDHHC8 RANBP1 MIR6816 LOC284865 TXNRD2 CCDC188 GNB1L TBX1 MIR4761 TANGO2 TRMT2A |
esv3575418 | Chr.22:18161776 - 19963846 on Build GRCh38 | Gain | TMEM191B DGCR10 C22orf29 DGCR11 CDC45 LOC642643 GP1BB LINC00895 LOC100996432 LOC100996415 LINC01311 DGCR9 CLDN5 SLC25A1 GGT3P DGCR14 FAM230A C22orf39 HIRA LOC729461 DGCR6 GSC2 DGCR5 TSSK2 CLTCL1 SEPT5 RIMBP3 DGCR2 PRODH COMT PI4KAP1 SEPT5-GP1BB USP18 LOC102725072 MRPL40 TXNRD2 LOC100996401 GNB1L TBX1 UFD1L MIR4761 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |