Assay Details
Target Gene Details
Entrez Gene ID: | 10008 |
Gene Name: | potassium voltage-gated channel subfamily E regulatory subunit 3 |
Gene Aliases: |
HOKPP, HYPP, MiRP2 |
Location: |
Chr.11:74454841-74467729 on Build GRCh38 |
Assay Gene Location: | Within Exon 6 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
KCNE3 | NM_005472.4 | 3 | 977 | NP_005463.1 |
XM_011544713.2 | 2 | 827 | XP_011543015.1 | |
XM_017017047.1 | 4 | 1047 | XP_016872536.1 | |
XM_017017048.1 | 5 | 1143 | XP_016872537.1 | |
XM_017017049.1 | 3 | 993 | XP_016872538.1 | |
XM_017017050.1 | 3 | 3851 | XP_016872539.1 | |
XM_017017051.1 | 4 | 966 | XP_016872540.1 | |
XM_017017052.1 | 3 | 917 | XP_016872541.1 | |
AF302494.1 | 2 | 935 | AAG16255.1 | |
BC110612.2 | 2 | 746 | AAI10613.1 | |
BC113743.1 | 2 | 801 | AAI13744.1 | |
CR936625.1 | 3 | 971 | CAI56768.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1041154 | Chr.11:74403756 - 74466864 on Build GRCh38 | Loss | KCNE3 |
esv34979 | Chr.11:74167643 - 74822407 on Build GRCh38 | Gain | P4HA3 MIR548AL MIR4696 CHRDL2 LOC100287896 PGM2L1 C2CD3 LIPT2 LOC101928580 PPME1 RNF169 POLD3 KCNE3 |
esv3626840 | Chr.11:74371082 - 74464389 on Build GRCh38 | Gain | MIR548AL PGM2L1 KCNE3 |
esv2759837 | Chr.11:74131564 - 74846552 on Build GRCh38 | Gain | P4HA3 MIR548AL MIR4696 CHRDL2 LOC100287896 PGM2L1 C2CD3 LIPT2 LOC101928580 PPME1 RNF169 POLD3 XRRA1 KCNE3 |
nsv555443 | Chr.11:74398121 - 74469444 on Build GRCh38 | Loss | MIR548AL PGM2L1 KCNE3 |
nsv832209 | Chr.11:74444838 - 74618074 on Build GRCh38 | Gain | LIPT2 LOC100287896 POLD3 KCNE3 |
dgv209e214 | Chr.11:74225600 - 74828943 on Build GRCh38 | Gain | LIPT2 P4HA3 MIR548AL LOC101928580 MIR4696 PPME1 CHRDL2 LOC100287896 RNF169 POLD3 PGM2L1 KCNE3 |
nsv393 | Chr.11:74424817 - 74470372 on Build GRCh38 | Deletion | KCNE3 |
nsv825994 | Chr.11:74225622 - 74823410 on Build GRCh38 | Gain | LIPT2 P4HA3 MIR548AL LOC101928580 MIR4696 PPME1 CHRDL2 LOC100287896 RNF169 POLD3 PGM2L1 KCNE3 |
More Information
Additional Information:
Set Membership: |
Intragenic Exonic DGV Variation Validated |