Genomic Map
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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 11 |
| 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 |
 LOC105374690
LOC100129434
CFAP36
PNPT1
MIR216A
CCDC85A
PPP4R3B
MIR217HG
MIR216B
EFEMP1
LOC101927165
LOC107985795
MIR217
|
| esv3583831 | Chr.2:55813097 - 55892413 on Build GRCh38 | Loss |
EFEMP1
|
| esv3892437 | Chr.2:55865477 - 55885305 on Build GRCh38 | Loss |
EFEMP1
|
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Set Membership: |
Intragenic
Intronic
Non-exonic
DGV Variation
|
Panther Classification:
Gene Ontology Categories:
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