Genomic Map
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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: | Overlaps Intron 7 - Exon 8 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| AIRE | NM_000383.3 | NP_000374.1 | ||
| AB006682.1 | BAA23988.1 | |||
| AB006683.1 | 2 | 508 | BAA23989.1 | |
| AB006685.1 | 2 | 508 | BAA23993.1 | |
| AK309572.1 | ||||
| BC137268.1 | 1 | 688 | ||
| BC137270.1 | 1 | 688 | ||
| 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 |
 TSPEAR-AS1
TRPM2-AS
TSPEAR-AS2
TSPEAR
C21orf2
LRRC3-AS1
LRRC3
TRPM2
PFKL
LOC100505727
AIRE
|
| esv2723638 | Chr.21:44249174 - 44593709 on Build GRCh38 | Deletion |
TSPEAR-AS1
TSPEAR-AS2
TSPEAR
C21orf2
KRTAP10-1
KRTAP10-3
LOC105372833
DNMT3L
LOC100505727
AIRE
TRPM2-AS
KRTAP10-5
LRRC3-AS1
LRRC3
KRTAP10-2
KRTAP10-6
TRPM2
PFKL
KRTAP10-4
|
| nsv509800 | Chr.21:44284048 - 44471571 on Build GRCh38 | Insertion |
TRPM2-AS
C21orf2
LRRC3-AS1
LRRC3
TRPM2
PFKL
AIRE
|
| nsv587774 | Chr.21:44283777 - 44306907 on Build GRCh38 | Loss |
PFKL
AIRE
|
| nsv587740 | Chr.21:44209682 - 44429981 on Build GRCh38 | Loss |
TRPM2-AS
C21orf2
LOC105372833
DNMT3L
ICOSLG
TRPM2
PFKL
AIRE
|
| esv33817 | Chr.21:43749531 - 44647625 on Build GRCh38 | Loss |
TSPEAR-AS2
TSPEAR
C21orf2
KRTAP10-1
KRTAP10-9
AIRE
LRRC3-AS1
LRRC3
TRAPPC10
KRTAP10-10
CSTB
RRP1
TRPM2
PFKL
TSPEAR-AS1
AATBC
KRTAP10-3
LOC105372833
KRTAP10-8
DNMT3L
ICOSLG
LOC100505727
AGPAT3
TRPM2-AS
KRTAP10-5
PWP2
C21orf33
KRTAP10-11
KRTAP10-2
KRTAP10-7
KRTAP10-6
PDXK
KRTAP10-4
|
Back To TopMore Information
Set Membership: |
Intragenic
Non-exonic
DGV Variation
|
Gene Ontology Categories:
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