Genomic Map
Back To TopAssay 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 | 2352 | NP_001034437.1 |
| NM_001039349.2 | 11 | 2311 | NP_001034438.1 | |
| XM_005264205.4 | 10 | 2112 | XP_005264262.1 | |
| XM_017003586.1 | 9 | 2047 | XP_016859075.1 | |
| AA704122.1 | 1 | 212 | ||
| AK092854.1 | 13 | 1737 | ||
| AK293058.1 | ||||
| AK301402.1 | 9 | 1717 | ||
| BC014410.1 | 11 | 1915 | AAH14410.1 | |
| BC098561.1 | 12 | 1963 | AAH98561.1 | |
| BU683304.1 | ||||
| U03877.1 | 9 | 1770 | 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 |
 MIR216B
LOC101927165
MIR216A
PNPT1
LOC100129434
LOC107985795
MIR217HG
CCDC85A
PPP4R3B
CFAP36
EFEMP1
MIR217
LOC105374690
|
| esv3583831 | Chr.2:55813097 - 55892413 on Build GRCh38 | Loss |
EFEMP1
|
| esv3892437 | Chr.2:55865477 - 55885305 on Build GRCh38 | Loss |
EFEMP1
|
Back To TopMore Information
Set Membership: |
Intragenic
Exonic
DGV Variation
|
Panther Classification:
Gene Ontology Categories:
Back To Top