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 3 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
COMT | NM_000754.3 | NP_000745.1 | ||
NM_001135161.1 | NP_001128633.1 | |||
XM_017028594.1 | XP_016884083.1 | |||
XM_017028595.1 | XP_016884084.1 | |||
AK130031.1 | ||||
AK290440.1 | ||||
BC000419.2 | AAH00419.2 | |||
BC005867.2 | AAH05867.1 | |||
BE386545.1 | ||||
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 COMT TANGO2 ARVCF MIR185 |
esv3893434 | Chr.22:19470889 - 20343372 on Build GRCh38 | Gain | DGCR8 LOC101927859 CLDN5 LINC00896 CCDC188 LOC440792 DGCR6L TXNRD2 GNB1L LINC00895 UFD1L SEPT5-GP1BB TBX1 MIR3618 LOC284865 TANGO2 RANBP1 MIR1306 MIR1286 COMT ARVCF MIR6816 MIR185 C22orf29 CDC45 MIR4761 TRMT2A GP1BB SEPT5 RTN4R ZDHHC8 |
nsv828939 | Chr.22:19696032 - 20324465 on Build GRCh38 | Loss | DGCR8 LINC00896 CCDC188 LOC440792 DGCR6L TXNRD2 GNB1L SEPT5-GP1BB TBX1 MIR3618 LOC284865 TANGO2 RANBP1 MIR1306 MIR1286 COMT ARVCF MIR6816 MIR185 C22orf29 MIR4761 TRMT2A GP1BB SEPT5 RTN4R ZDHHC8 |
nsv828938 | Chr.22:19691069 - 20324465 on Build GRCh38 | Gain | DGCR8 LINC00896 CCDC188 LOC440792 DGCR6L TXNRD2 GNB1L SEPT5-GP1BB TBX1 MIR3618 LOC284865 TANGO2 RANBP1 MIR1306 MIR1286 COMT ARVCF MIR6816 MIR185 C22orf29 MIR4761 TRMT2A GP1BB SEPT5 RTN4R ZDHHC8 |
esv3647280 | Chr.22:19901541 - 19962814 on Build GRCh38 | Gain | COMT TXNRD2 |
nsv469641 | Chr.22:19891662 - 20067735 on Build GRCh38 | Loss | MIR4761 COMT TANGO2 TXNRD2 ARVCF MIR185 |
dgv72n68 | Chr.22:19891663 - 20082447 on Build GRCh38 | Loss | DGCR8 MIR4761 COMT TANGO2 TXNRD2 ARVCF MIR185 |
dgv7983n54 | Chr.22:19762002 - 20321870 on Build GRCh38 | Gain | MIR1286 DGCR8 COMT LINC00896 CCDC188 LOC440792 DGCR6L TXNRD2 ARVCF GNB1L MIR6816 MIR185 C22orf29 MIR4761 TRMT2A TBX1 MIR3618 LOC284865 TANGO2 RANBP1 MIR1306 RTN4R ZDHHC8 |
esv3575418 | Chr.22:18161776 - 19963846 on Build GRCh38 | Gain | LINC01311 CLDN5 DGCR14 DGCR6 GGT3P CLTCL1 TXNRD2 LOC102725072 GNB1L USP18 LOC642643 DGCR9 LINC00895 UFD1L LOC100996401 SEPT5-GP1BB DGCR11 TBX1 TMEM191B LOC100996432 FAM230A LOC729461 C22orf39 SLC25A1 COMT PI4KAP1 RIMBP3 DGCR2 DGCR5 C22orf29 LOC100996415 CDC45 MIR4761 GSC2 MRPL40 HIRA GP1BB TSSK2 PRODH SEPT5 DGCR10 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |