Assay Details
Target Gene Details
Entrez Gene ID: | 2068 |
Gene Name: | ERCC excision repair 2, TFIIH core complex helicase subunit |
Gene Aliases: |
COFS2, EM9, TFIIH, TTD, TTD1, XPD |
Location: |
Chr.19:45349837-45370647 on Build GRCh38 |
Assay Gene Location: | Within Exon 17 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ERCC2 | NM_000400.3 | 17 | 1638 | NP_000391.1 |
XM_011526611.2 | 16 | 1620 | XP_011524913.1 | |
XM_017026467.1 | 16 | 1534 | XP_016881956.1 | |
AK092872.1 | 4 | 1679 | ||
AK130849.1 | 6 | 762 | BAC85446.1 | |
BC108255.1 | 17 | 1601 | AAI08256.1 | |
BC110522.1 | 15 | 1385 | AAI10523.1 | |
BC110523.1 | 17 | 1619 | AAI10524.1 | |
X52221.1 | 16 | 2272 | CAA36463.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1160649 | Chr.19:45353791 - 45361633 on Build GRCh38 | Duplication | ERCC2 |
dgv29n64 | Chr.19:45334011 - 45373709 on Build GRCh38 | Gain | KLC3 ERCC2 |
nsv1063547 | Chr.19:45322368 - 45400204 on Build GRCh38 | Gain | CKM PPP1R13L KLC3 ERCC2 |
dgv3606n100 | Chr.19:45347435 - 45400204 on Build GRCh38 | Gain | PPP1R13L KLC3 ERCC2 |
nsv833844 | Chr.19:45181051 - 45384148 on Build GRCh38 | Loss | BLOC1S3 CKM PPP1R13L EXOC3L2 KLC3 MARK4 ERCC2 |
nsv1160648 | Chr.19:45347447 - 45368176 on Build GRCh38 | Duplication | KLC3 ERCC2 |
nsv579868 | Chr.19:45334025 - 45359625 on Build GRCh38 | Gain | KLC3 ERCC2 |
nsv833845 | Chr.19:45308814 - 45457371 on Build GRCh38 | Loss | CD3EAP MIR6088 ERCC1 CKM PPP1R13L KLC3 ERCC2 |
nsv515681 | Chr.19:45352886 - 45364001 on Build GRCh38 | Loss | ERCC2 |
esv3644502 | Chr.19:45323147 - 45403933 on Build GRCh38 | Gain | PPP1R13L KLC3 ERCC2 |
dgv1054e212 | Chr.19:45347119 - 45407663 on Build GRCh38 | Gain | CD3EAP ERCC1 PPP1R13L KLC3 ERCC2 |
esv3644504 | Chr.19:45342675 - 45373732 on Build GRCh38 | Gain | KLC3 ERCC2 |
nsv458711 | Chr.19:45323108 - 45408744 on Build GRCh38 | Gain | CD3EAP ERCC1 PPP1R13L KLC3 ERCC2 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |