Assay Details
Target Gene Details
Entrez Gene ID: | 30008 |
Gene Name: | EGF containing fibulin like extracellular matrix protein 2 |
Gene Aliases: |
ARCL1B, FBLN4, MBP1, UPH1 |
Location: |
Chr.11:65866441-65872934 on Build GRCh38 |
Assay Gene Location: | Within Exon 8 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
EFEMP2 | NM_016938.4 | 8 | 1061 | NP_058634.4 |
NR_037718.1 | 8 | 1061 | ||
AB030655.1 | 8 | 898 | BAA92880.1 | |
AB209121.1 | 4 | 4364 | BAD92358.1 | |
AF093119.1 | 7 | 790 | AAC62108.1 | |
AF109121.1 | 8 | 889 | AAF65188.1 | |
AF124486.1 | 7 | 802 | AAG45245.1 | |
AJ132819.2 | 7 | 802 | CAA10791.2 | |
AK000980.1 | 8 | 898 | ||
AK075453.1 | 8 | 867 | ||
AK095794.1 | 1 | 1368 | ||
AK098186.1 | 4 | 1801 | ||
AK292079.1 | 8 | 906 | ||
AK315181.1 | 8 | 867 | ||
AY358899.1 | 8 | 863 | AAQ89258.1 | |
BC010456.1 | 8 | 917 | AAH10456.1 | |
BQ478413.1 | 5 | 481 | ||
CR541934.1 | 7 | 802 | CAG46732.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv2759834 | Chr.11:65792422 - 65954892 on Build GRCh38 | Gain | SNX32 CFL1 MUS81 EFEMP2 CCDC85B DRAP1 FIBP OVOL1 FOSL1 C11orf68 TSGA10IP CTSW |
nsv832191 | Chr.11:65864858 - 66038649 on Build GRCh38 | Loss | SART1 CATSPER1 BANF1 MUS81 TSGA10IP CTSW CST6 EIF1AD EFEMP2 CCDC85B DRAP1 FIBP FOSL1 C11orf68 |
nsv555215 | Chr.11:65814108 - 65909045 on Build GRCh38 | Loss | SNX32 CFL1 MUS81 EFEMP2 CCDC85B FIBP FOSL1 CTSW |
nsv1159905 | Chr.11:65836608 - 65922038 on Build GRCh38 | Duplication | SNX32 CFL1 MUS81 EFEMP2 CCDC85B DRAP1 FIBP FOSL1 C11orf68 CTSW |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |