Assay Details
Target Gene Details
Entrez Gene ID: | 83715 |
Gene Name: | espin |
Gene Aliases: |
DFNB36, LP2654 |
Location: |
Chr.1:6424776-6461367 on Build GRCh38 |
Assay Gene Location: | Within Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ESPN | NM_031475.2 | 1 | 103 | NP_113663.2 |
XM_005263501.2 | 1 | 115 | XP_005263558.1 | |
XM_011542231.1 | 1 | 115 | XP_011540533.1 | |
XM_011542232.1 | 1 | 115 | XP_011540534.1 | |
XM_011542237.1 | 1 | 115 | XP_011540539.1 | |
XM_011542238.2 | 1 | 115 | XP_011540540.1 | |
XM_017002433.1 | 1 | 115 | XP_016857922.1 | |
XM_017002434.1 | 1 | 115 | XP_016857923.1 | |
AL136880.1 | 1 | 103 | CAB66814.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1009548 | Chr.1:6342976 - 6517352 on Build GRCh38 | Loss | TNFRSF25 ESPN ACOT7 PLEKHG5 MIR4252 HES2 |
nsv1142745 | Chr.1:6424740 - 6425140 on Build GRCh38 | Deletion | ESPN |
dgv80n54 | Chr.1:6396412 - 6512115 on Build GRCh38 | Loss | TNFRSF25 ESPN PLEKHG5 MIR4252 HES2 |
nsv482179 | Chr.1:6424788 - 6460943 on Build GRCh38 | Gain | ESPN MIR4252 |
nsv954048 | Chr.1:6414241 - 6500740 on Build GRCh38 | Deletion | TNFRSF25 ESPN PLEKHG5 MIR4252 HES2 |
nsv7880 | Chr.1:6417968 - 6611914 on Build GRCh38 | Gain+Loss | NOL9 TNFRSF25 TAS1R1 ESPN PLEKHG5 KLHL21 ZBTB48 MIR4252 HES2 |
nsv545240 | Chr.1:6351154 - 6512115 on Build GRCh38 | Loss | TNFRSF25 ESPN ACOT7 PLEKHG5 MIR4252 HES2 |
esv25412 | Chr.1:6416568 - 6461456 on Build GRCh38 | Gain+Loss | TNFRSF25 ESPN MIR4252 HES2 |
nsv508836 | Chr.1:6406896 - 6501029 on Build GRCh38 | Insertion | TNFRSF25 ESPN PLEKHG5 MIR4252 HES2 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |