Genomic Map
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Target Gene Details
Entrez Gene ID: | 112398 |
Gene Name: | egl-9 family hypoxia inducible factor 2 |
Gene Aliases: |
EIT6, HIF-PH1, HIFPH1, HPH-1, HPH-3, PHD1 |
Location: |
Chr.19:40799143-40808441 on Build GRCh38 |
Assay Gene Location: | Within Intron 3 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| EGLN2 | NM_053046.3 | NP_444274.1 | ||
| NM_080732.3 | NP_542770.2 | |||
| AJ310544.1 | CAC42510.1 | |||
| AK074408.1 | ||||
| AK098182.1 | ||||
| AL133009.1 | 1 | 1063 | CAB61353.1 | |
| AL832506.1 | ||||
| AY040565.1 | AAK82943.1 | |||
| BC001723.1 | AAH01723.1 | |||
| BC036051.1 | AAH36051.1 |
Target Gene Details
Entrez Gene ID: | 100529264 |
Gene Name: | RAB4B-EGLN2 readthrough (NMD candidate) |
Gene Aliases: |
RERT-lncRNA |
Location: |
Chr.19:40778219-40808441 on Build GRCh38 |
Assay Gene Location: | Within Intron 8 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| RAB4B-EGLN2 | NR_037791.1 | |||
| AK291385.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
| Target Variation |
Location | CNV Subtype |
Genes |
|---|---|---|---|
| nsv833832 | Chr.19:40754458 - 40828692 on Build GRCh38 | Loss |
 CYP2T1P
EGLN2
SNRPA
MIA-RAB4B
RAB4B-EGLN2
MIA
RAB4B
|
| nsv1066637 | Chr.19:40803306 - 41091991 on Build GRCh38 | Gain |
CYP2A6
CYP2T1P
EGLN2
CYP2A7
CYP2B6
RAB4B-EGLN2
CYP2A7P1
CYP2B7P
CYP2A13
CYP2G1P
|
| esv2758762 | Chr.19:40785722 - 41040163 on Build GRCh38 | Gain+Loss |
CYP2A6
CYP2T1P
EGLN2
CYP2A7
MIA-RAB4B
CYP2B6
RAB4B-EGLN2
CYP2A7P1
RAB4B
CYP2B7P
CYP2G1P
|
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Set Membership: |
Intragenic
Intronic
Non-exonic
DGV Variation
|
Gene Ontology Categories:
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