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 11 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
EFEMP2 | NM_016938.4 | 11 | 1533 | NP_058634.4 |
NR_037718.1 | 11 | 1533 | ||
AB030655.1 | 11 | 1370 | BAA92880.1 | |
AB209121.1 | 7 | 4836 | BAD92358.1 | |
AF093119.1 | 10 | 1262 | AAC62108.1 | |
AF109121.1 | 11 | 1361 | AAF65188.1 | |
AF124486.1 | 10 | 1274 | AAG45245.1 | |
AJ132819.2 | 10 | 1274 | CAA10791.2 | |
AK000980.1 | 11 | 1370 | ||
AK075453.1 | 11 | 1339 | ||
AK095794.1 | 4 | 1840 | ||
AK098186.1 | 7 | 2217 | ||
AK292079.1 | 11 | 1378 | ||
AK315181.1 | 11 | 1339 | ||
AY358899.1 | 11 | 1335 | AAQ89258.1 | |
BC010456.1 | 11 | 1389 | AAH10456.1 | |
CR541934.1 | 10 | 1274 | 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 | MUS81 FOSL1 CCDC85B OVOL1 SNX32 DRAP1 C11orf68 EFEMP2 CTSW TSGA10IP CFL1 FIBP |
nsv832191 | Chr.11:65864858 - 66038649 on Build GRCh38 | Loss | FOSL1 CCDC85B SART1 EIF1AD BANF1 MUS81 DRAP1 CATSPER1 C11orf68 EFEMP2 CTSW TSGA10IP FIBP CST6 |
nsv555215 | Chr.11:65814108 - 65909045 on Build GRCh38 | Loss | MUS81 FOSL1 CCDC85B SNX32 EFEMP2 CTSW CFL1 FIBP |
nsv1159905 | Chr.11:65836608 - 65922038 on Build GRCh38 | Duplication | MUS81 FOSL1 CCDC85B SNX32 DRAP1 C11orf68 EFEMP2 CTSW CFL1 FIBP |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |