Assay Details
Target Gene Details
Entrez Gene ID: | 2202 |
Gene Name: | EGF containing fibulin like extracellular matrix protein 1 |
Gene Aliases: |
DHRD, DRAD, FBLN3, FBNL, FIBL-3, MLVT, MTLV, S1-5 |
Location: |
Chr.2:55865962-55924163 on Build GRCh38 |
Assay Gene Location: | Within Exon 12 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
EFEMP1 | NM_001039348.2 | 12 | 1934 | NP_001034437.1 |
NM_001039349.2 | 11 | 1893 | NP_001034438.1 | |
XM_005264205.4 | 10 | 1694 | XP_005264262.1 | |
XM_017003586.1 | 9 | 1629 | XP_016859075.1 | |
AA704122.1 | 1 | 630 | ||
AB209212.1 | 8 | 1210 | BAD92449.1 | |
AK092854.1 | 13 | 1319 | ||
AK290599.1 | 12 | 1558 | ||
AK293058.1 | 11 | 1869 | ||
AK301402.1 | 9 | 1299 | ||
AK301531.1 | 10 | 1061 | ||
AK312639.1 | 12 | 1553 | ||
BC014410.1 | 11 | 1497 | AAH14410.1 | |
BC098561.1 | 12 | 1545 | AAH98561.1 | |
KU178058.1 | 10 | 1433 | ||
KU178059.1 | 8 | 1193 | ||
U03877.1 | 9 | 1352 | AAA65590.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv3575244 | Chr.2:55522427 - 56940881 on Build GRCh38 | Gain | LOC107985795 EFEMP1 LOC101927165 LOC105374690 CFAP36 PNPT1 MIR216B PPP4R3B MIR217HG MIR217 CCDC85A MIR216A LOC100129434 |
esv3583831 | Chr.2:55813097 - 55892413 on Build GRCh38 | Loss | EFEMP1 |
esv3892437 | Chr.2:55865477 - 55885305 on Build GRCh38 | Loss | EFEMP1 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |