Assay Details
Target Gene Details
Entrez Gene ID: | 22905 |
Gene Name: | epsin 2 |
Gene Aliases: |
EHB21 |
Location: |
Chr.17:19237377-19336715 on Build GRCh38 |
Assay Gene Location: | Within Intron 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
EPN2 | NM_001102664.1 | NP_001096134.1 | ||
NM_014964.4 | NP_055779.2 | |||
NM_148921.3 | NP_683723.2 | |||
AB028988.1 | ||||
AK024115.1 | BAB14831.1 | |||
AK092366.1 | ||||
AK295652.1 | ||||
AK298006.1 | ||||
AK307455.1 | ||||
BC070036.1 | AAH70036.1 | |||
DA220261.1 | ||||
DC316524.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv428336 | Chr.17:18927239 - 19288734 on Build GRCh38 | Gain+Loss | SNORD3A GRAP LOC79999 LOC102724624 SNORD3B-2 SNORD3D EPN2 SNORD3C PRPSAP2 EPN2-IT1 FAM83G SNORD3B-1 SLC5A10 GRAPL LOC388436 |
esv33572 | Chr.17:18919047 - 19291177 on Build GRCh38 | Gain | SNORD3A GRAP LOC79999 LOC102724624 SNORD3B-2 SNORD3D EPN2 SNORD3C PRPSAP2 EPN2-IT1 FAM83G SNORD3B-1 SLC5A10 GRAPL LOC388436 |
esv2758678 | Chr.17:18927303 - 19288734 on Build GRCh38 | Gain+Loss | SNORD3A GRAP LOC79999 LOC102724624 SNORD3B-2 SNORD3D EPN2 SNORD3C PRPSAP2 EPN2-IT1 FAM83G SNORD3B-1 SLC5A10 GRAPL LOC388436 |
nsv833393 | Chr.17:19146950 - 19361795 on Build GRCh38 | Gain+Loss | EPN2 EPN2-AS1 SNORD3C SNORD3A MIR1180 EPN2-IT1 LOC79999 B9D1 GRAPL LOC388436 |
nsv2001 | Chr.17:19071255 - 19268498 on Build GRCh38 | Deletion | SNORD3D EPN2 SNORD3C SNORD3A LOC79999 GRAPL LOC388436 LOC102724624 |
nsv9504 | Chr.17:18389579 - 19238707 on Build GRCh38 | Gain+Loss | LOC101929141 KRT16P1 FOXO3B TRIM16L LOC79999 LOC102724624 EPN2 FBXW10 CCDC144B GRAPL FLJ35934 LGALS9C SNORD3A GRAP ZNF286B KRT17P2 FAM106A SNORD3B-2 USP32P2 SNORD3D SNORD3C TVP23B PRPSAP2 EVPLL TBC1D28 FAM83G SNORD3B-1 SLC5A10 LOC388436 KRT17P5 |
nsv1061317 | Chr.17:19047542 - 20322438 on Build GRCh38 | Gain | SNORA59B LOC79999 LOC102724624 CCDC144CP MAPK7 EPN2 EPN2-AS1 ALDH3A2 LOC100131943 RNF112 SPECC1 MIR1180 ULK2 B9D1 GRAPL RPS2P46 SNORD3A SLC47A1 GRAP ALDH3A1 SNORD3B-2 SNORD3D SNORD3C EPN2-IT1 SLC47A2 SNORD3B-1 LOC388436 MFAP4 AKAP10 |
dgv895e212 | Chr.17:19019105 - 19248776 on Build GRCh38 | Loss | SNORD3D EPN2 SNORD3C SNORD3A GRAP LOC79999 SNORD3B-1 SLC5A10 GRAPL LOC388436 LOC102724624 SNORD3B-2 |
nsv833391 | Chr.17:18906887 - 19238887 on Build GRCh38 | Loss | SNORD3A GRAP LOC79999 LOC102724624 SNORD3B-2 SNORD3D EPN2 SNORD3C PRPSAP2 FAM83G SNORD3B-1 SLC5A10 GRAPL LOC388436 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |