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 5 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
EFEMP2 | NM_016938.4 | 5 | 697 | NP_058634.4 |
NR_037718.1 | 5 | 697 | ||
AB030655.1 | 5 | 534 | BAA92880.1 | |
AB209121.1 | 3 | 2475 | BAD92358.1 | |
AF093119.1 | 4 | 426 | AAC62108.1 | |
AF109121.1 | 5 | 525 | AAF65188.1 | |
AF124486.1 | 4 | 438 | AAG45245.1 | |
AJ132819.2 | 4 | 438 | CAA10791.2 | |
AK000980.1 | 5 | 534 | ||
AK075453.1 | 5 | 503 | ||
AK098186.1 | 1 | 1437 | ||
AK292079.1 | 5 | 542 | ||
AK315181.1 | 5 | 503 | ||
AY358899.1 | 5 | 499 | AAQ89258.1 | |
BC010456.1 | 5 | 553 | AAH10456.1 | |
BQ478413.1 | 2 | 117 | ||
CR541934.1 | 4 | 438 | 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 | FIBP CTSW SNX32 EFEMP2 DRAP1 C11orf68 TSGA10IP CCDC85B OVOL1 CFL1 FOSL1 MUS81 |
nsv832191 | Chr.11:65864858 - 66038649 on Build GRCh38 | Loss | FIBP CTSW CATSPER1 EIF1AD DRAP1 C11orf68 FOSL1 BANF1 CST6 EFEMP2 TSGA10IP CCDC85B SART1 MUS81 |
esv999644 | Chr.11:65868696 - 65878563 on Build GRCh38 | Deletion | EFEMP2 |
nsv555215 | Chr.11:65814108 - 65909045 on Build GRCh38 | Loss | FIBP CTSW SNX32 EFEMP2 CCDC85B CFL1 FOSL1 MUS81 |
nsv1159905 | Chr.11:65836608 - 65922038 on Build GRCh38 | Duplication | FIBP CTSW SNX32 EFEMP2 DRAP1 C11orf68 CCDC85B CFL1 FOSL1 MUS81 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |