Genomic Map
Back To TopAssay Details
Target Gene Details
Entrez Gene ID: | 326 |
Gene Name: | autoimmune regulator |
Gene Aliases: |
AIRE1, APECED, APS1, APSI, PGA1 |
Location: |
Chr.21:44285838-44298219 on Build GRCh38 |
Assay Gene Location: | Within Intron 5 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| AIRE | NM_000383.3 | NP_000374.1 | ||
| AB006682.1 | BAA23988.1 | |||
| AK309572.1 | ||||
| Z97990.1 | CAB10790.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
| Target Variation |
Location | CNV Subtype |
Genes |
|---|---|---|---|
| nsv953646 | Chr.21:44279118 - 44523117 on Build GRCh38 | Deletion |
 LRRC3
PFKL
LOC100505727
TSPEAR
AIRE
TSPEAR-AS2
LRRC3-AS1
TRPM2-AS
TRPM2
C21orf2
TSPEAR-AS1
|
| esv2723638 | Chr.21:44249174 - 44593709 on Build GRCh38 | Deletion |
KRTAP10-4
PFKL
LOC100505727
AIRE
TSPEAR-AS2
TRPM2-AS
LOC105372833
KRTAP10-5
C21orf2
DNMT3L
LRRC3
KRTAP10-1
TSPEAR
LRRC3-AS1
KRTAP10-2
KRTAP10-6
TRPM2
TSPEAR-AS1
KRTAP10-3
|
| nsv509800 | Chr.21:44284048 - 44471571 on Build GRCh38 | Insertion |
LRRC3
PFKL
AIRE
LRRC3-AS1
TRPM2-AS
TRPM2
C21orf2
|
| nsv587774 | Chr.21:44283777 - 44306907 on Build GRCh38 | Loss |
PFKL
AIRE
|
| nsv587740 | Chr.21:44209682 - 44429981 on Build GRCh38 | Loss |
PFKL
ICOSLG
AIRE
TRPM2-AS
LOC105372833
TRPM2
C21orf2
DNMT3L
|
| esv33817 | Chr.21:43749531 - 44647625 on Build GRCh38 | Loss |
PFKL
C21orf33
LOC100505727
AIRE
TRPM2-AS
RRP1
KRTAP10-5
C21orf2
KRTAP10-10
TSPEAR
LRRC3-AS1
KRTAP10-2
PDXK
AATBC
KRTAP10-6
KRTAP10-9
KRTAP10-3
TRAPPC10
KRTAP10-4
KRTAP10-7
ICOSLG
TSPEAR-AS2
LOC105372833
PWP2
KRTAP10-8
DNMT3L
CSTB
LRRC3
AGPAT3
KRTAP10-1
KRTAP10-11
TRPM2
TSPEAR-AS1
|
Back To TopMore Information
Set Membership: |
Intragenic
Intronic
Non-exonic
DGV Variation
|
Gene Ontology Categories:
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