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 Intron 8 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
EFEMP1 | NM_001039348.2 | NP_001034437.1 | ||
NM_001039349.2 | NP_001034438.1 | |||
XM_005264205.4 | XP_005264262.1 | |||
XM_017003586.1 | XP_016859075.1 | |||
AB209212.1 | BAD92449.1 | |||
AK092854.1 | ||||
AK290599.1 | ||||
AK293058.1 | ||||
AK301402.1 | ||||
AK301531.1 | ||||
AK312639.1 | ||||
BC014410.1 | AAH14410.1 | |||
BC098561.1 | AAH98561.1 | |||
KU178058.1 | ||||
KU178059.1 | ||||
U03877.1 | 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 | PPP4R3B LOC107985795 LOC100129434 LOC101927165 CCDC85A PNPT1 MIR216B EFEMP1 LOC105374690 MIR217 MIR216A CFAP36 MIR217HG |
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 Intronic Non-exonic DGV Variation |