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: | Overlaps Intron 8 - Exon 9 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
EFEMP2 | NM_016938.4 | NP_058634.4 | ||
NR_037718.1 | ||||
AB030655.1 | BAA92880.1 | |||
AB209121.1 | BAD92358.1 | |||
AF093119.1 | AAC62108.1 | |||
AF109121.1 | AAF65188.1 | |||
AF124486.1 | AAG45245.1 | |||
AJ132819.2 | CAA10791.2 | |||
AK000980.1 | ||||
AK075453.1 | ||||
AK095794.1 | ||||
AK098186.1 | ||||
AK292079.1 | ||||
AK315181.1 | ||||
AY358899.1 | AAQ89258.1 | |||
BC010456.1 | AAH10456.1 | |||
BQ478413.1 | ||||
CR541934.1 | 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 OVOL1 TSGA10IP EFEMP2 C11orf68 MUS81 FOSL1 SNX32 CCDC85B DRAP1 CFL1 |
nsv832191 | Chr.11:65864858 - 66038649 on Build GRCh38 | Loss | FIBP CTSW CATSPER1 SART1 TSGA10IP FOSL1 DRAP1 CST6 EFEMP2 BANF1 C11orf68 MUS81 EIF1AD CCDC85B |
nsv555215 | Chr.11:65814108 - 65909045 on Build GRCh38 | Loss | FIBP CTSW EFEMP2 MUS81 FOSL1 SNX32 CCDC85B CFL1 |
nsv1159905 | Chr.11:65836608 - 65922038 on Build GRCh38 | Duplication | FIBP CTSW EFEMP2 C11orf68 MUS81 FOSL1 SNX32 CCDC85B DRAP1 CFL1 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |