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 6 - Exon 7 |
| 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 |
 TSPEAR
LRRC3
AIRE
TRPM2-AS
PFKL
LOC100505727
C21orf2
LRRC3-AS1
TSPEAR-AS1
TRPM2
TSPEAR-AS2
|
| esv2723638 | Chr.21:44249174 - 44593709 on Build GRCh38 | Deletion |
TSPEAR
LRRC3
KRTAP10-6
KRTAP10-3
TRPM2-AS
PFKL
LOC100505727
LRRC3-AS1
TSPEAR-AS1
LOC105372833
TRPM2
KRTAP10-5
TSPEAR-AS2
AIRE
C21orf2
KRTAP10-4
KRTAP10-1
KRTAP10-2
DNMT3L
|
| nsv509800 | Chr.21:44284048 - 44471571 on Build GRCh38 | Insertion |
LRRC3
AIRE
TRPM2-AS
PFKL
C21orf2
LRRC3-AS1
TRPM2
|
| nsv587774 | Chr.21:44283777 - 44306907 on Build GRCh38 | Loss |
AIRE
PFKL
|
| nsv587740 | Chr.21:44209682 - 44429981 on Build GRCh38 | Loss |
AIRE
TRPM2-AS
PFKL
C21orf2
ICOSLG
LOC105372833
TRPM2
DNMT3L
|
| esv33817 | Chr.21:43749531 - 44647625 on Build GRCh38 | Loss |
LRRC3
KRTAP10-3
LOC100505727
LRRC3-AS1
CSTB
LOC105372833
TRPM2
KRTAP10-7
PWP2
PDXK
C21orf2
C21orf33
KRTAP10-4
KRTAP10-1
KRTAP10-8
TSPEAR
KRTAP10-6
TRPM2-AS
PFKL
TSPEAR-AS1
KRTAP10-11
KRTAP10-5
TSPEAR-AS2
KRTAP10-9
AIRE
AGPAT3
ICOSLG
KRTAP10-10
TRAPPC10
AATBC
KRTAP10-2
RRP1
DNMT3L
|
Back To TopMore Information
Set Membership: |
Intragenic
Non-exonic
DGV Variation
|
Gene Ontology Categories:
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