Assay 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 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 | BAA23989.1 | |||
AB006685.1 | BAA23993.1 | |||
AK309572.1 | ||||
BC137268.1 | ||||
BC137270.1 | ||||
Z97990.1 | CAB10790.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv526673 | Chr.21:44291319 - 44303501 on Build GRCh38 | Loss | AIRE PFKL |
nsv953646 | Chr.21:44279118 - 44523117 on Build GRCh38 | Deletion | TSPEAR-AS2 LRRC3 TRPM2-AS LRRC3-AS1 TSPEAR-AS1 C21orf2 LOC100505727 TRPM2 TSPEAR AIRE PFKL |
esv2723638 | Chr.21:44249174 - 44593709 on Build GRCh38 | Deletion | TRPM2-AS LOC100505727 TRPM2 KRTAP10-2 KRTAP10-4 KRTAP10-1 PFKL KRTAP10-3 DNMT3L KRTAP10-5 TSPEAR-AS2 LRRC3 LRRC3-AS1 TSPEAR-AS1 C21orf2 TSPEAR KRTAP10-6 AIRE LOC105372833 |
nsv509800 | Chr.21:44284048 - 44471571 on Build GRCh38 | Insertion | LRRC3 TRPM2-AS LRRC3-AS1 C21orf2 TRPM2 AIRE PFKL |
nsv587774 | Chr.21:44283777 - 44306907 on Build GRCh38 | Loss | AIRE PFKL |
nsv587740 | Chr.21:44209682 - 44429981 on Build GRCh38 | Loss | DNMT3L ICOSLG TRPM2-AS C21orf2 TRPM2 AIRE LOC105372833 PFKL |
esv33817 | Chr.21:43749531 - 44647625 on Build GRCh38 | Loss | LOC100505727 PDXK AATBC PWP2 KRTAP10-3 KRTAP10-7 DNMT3L KRTAP10-5 LRRC3 AGPAT3 TSPEAR-AS1 C21orf33 TSPEAR ICOSLG RRP1 CSTB KRTAP10-8 TRPM2-AS TRPM2 KRTAP10-2 KRTAP10-4 KRTAP10-1 PFKL TSPEAR-AS2 LRRC3-AS1 C21orf2 KRTAP10-11 KRTAP10-6 KRTAP10-10 AIRE KRTAP10-9 TRAPPC10 LOC105372833 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |