Evidence Details for AIRE
Basic Information Top
| Gene Symbol: | AIRE ( AIRE1,APECED,APS1,APSI,PGA1 ) |
|---|---|
| Gene Full Name: | autoimmune regulator |
| Band: | 21q22.3 |
| Quick Links | Entrez ID:326; OMIM: 607358; Uniprot ID:AIRE_HUMAN; ENSEMBL ID: ENSG00000160224; HGNC ID: 360 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>AIRE|326|nucleotide
ATGGCGACGGACGCGGCGCTACGCCGGCTTCTGAGGCTGCACCGCACGGAGATCGCGGTGGCCGTGGACAGCGCCTTCCCACTGCTGCACGCGCTGGCTGACCAC
GACGTGGTCCCCGAGGACAAGTTTCAGGAGACGCTTCATCTGAAGGAAAAGGAGGGCTGCCCCCAGGCCTTCCACGCCCTCCTGTCCTGGCTGCTGACCCAGGAC
TCCACAGCCATCCTGGACTTCTGGAGGGTGCTGTTCAAGGACTACAACCTGGAGCGCTATGGCCGGCTGCAGCCCATCCTGGACAGCTTCCCCAAAGATGTGGAC
CTCAGCCAGCCCCGGAAGGGGAGGAAGCCCCCGGCCGTCCCCAAGGCTTTGGTACCGCCACCCAGACTCCCCACCAAGAGGAAGGCCTCAGAAGAGGCTCGAGCT
GCCGCGCCAGCAGCCCTGACTCCAAGGGGCACCGCCAGCCCAGGCTCTCAACTGAAGGCCAAGCCCCCCAAGAAGCCGGAGAGCAGCGCAGAGCAGCAGCGCCTT
CCACTCGGGAACGGGATTCAGACCATGTCAGCTTCAGTCCAGAGAGCTGTGGCCATGTCCTCCGGGGACGTCCCGGGAGCCCGAGGGGCCGTGGAGGGGATCCTC
ATCCAGCAGGTGTTTGAGTCAGGCGGCTCCAAGAAGTGCATCCAGGTTGGCGGGGAGTTCTACACTCCCAGCAAGTTCGAAGACTCCGGCAGTGGGAAGAACAAG
GCCCGCAGCAGCAGTGGCCCGAAGCCTCTGGTTCGAGCCAAGGGAGCCCAGGGCGCTGCCCCCGGTGGAGGTGAGGCTAGGCTGGGCCAGCAGGGCAGCGTTCCC
GCCCCTCTGGCCCTCCCCAGTGACCCCCAGCTCCACCAGAAGAATGAGGACGAGTGTGCCGTGTGTCGGGACGGCGGGGAGCTCATCTGCTGTGACGGCTGCCCT
CGGGCCTTCCACCTGGCCTGCCTGTCCCCTCCGCTCCGGGAGATCCCCAGTGGGACCTGGAGGTGCTCCAGCTGCCTGCAGGCAACAGTCCAGGAGGTGCAGCCC
CGGGCAGAGGAGCCCCGGCCCCAGGAGCCACCCGTGGAGACCCCGCTCCCCCCGGGGCTTAGGTCGGCGGGAGAGGAGGTAAGAGGTCCACCTGGGGAACCCCTA
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ATGGCGACGGACGCGGCGCTACGCCGGCTTCTGAGGCTGCACCGCACGGAGATCGCGGTGGCCGTGGACAGCGCCTTCCCACTGCTGCACGCGCTGGCTGACCAC
GACGTGGTCCCCGAGGACAAGTTTCAGGAGACGCTTCATCTGAAGGAAAAGGAGGGCTGCCCCCAGGCCTTCCACGCCCTCCTGTCCTGGCTGCTGACCCAGGAC
TCCACAGCCATCCTGGACTTCTGGAGGGTGCTGTTCAAGGACTACAACCTGGAGCGCTATGGCCGGCTGCAGCCCATCCTGGACAGCTTCCCCAAAGATGTGGAC
CTCAGCCAGCCCCGGAAGGGGAGGAAGCCCCCGGCCGTCCCCAAGGCTTTGGTACCGCCACCCAGACTCCCCACCAAGAGGAAGGCCTCAGAAGAGGCTCGAGCT
GCCGCGCCAGCAGCCCTGACTCCAAGGGGCACCGCCAGCCCAGGCTCTCAACTGAAGGCCAAGCCCCCCAAGAAGCCGGAGAGCAGCGCAGAGCAGCAGCGCCTT
CCACTCGGGAACGGGATTCAGACCATGTCAGCTTCAGTCCAGAGAGCTGTGGCCATGTCCTCCGGGGACGTCCCGGGAGCCCGAGGGGCCGTGGAGGGGATCCTC
ATCCAGCAGGTGTTTGAGTCAGGCGGCTCCAAGAAGTGCATCCAGGTTGGCGGGGAGTTCTACACTCCCAGCAAGTTCGAAGACTCCGGCAGTGGGAAGAACAAG
GCCCGCAGCAGCAGTGGCCCGAAGCCTCTGGTTCGAGCCAAGGGAGCCCAGGGCGCTGCCCCCGGTGGAGGTGAGGCTAGGCTGGGCCAGCAGGGCAGCGTTCCC
GCCCCTCTGGCCCTCCCCAGTGACCCCCAGCTCCACCAGAAGAATGAGGACGAGTGTGCCGTGTGTCGGGACGGCGGGGAGCTCATCTGCTGTGACGGCTGCCCT
CGGGCCTTCCACCTGGCCTGCCTGTCCCCTCCGCTCCGGGAGATCCCCAGTGGGACCTGGAGGTGCTCCAGCTGCCTGCAGGCAACAGTCCAGGAGGTGCAGCCC
CGGGCAGAGGAGCCCCGGCCCCAGGAGCCACCCGTGGAGACCCCGCTCCCCCCGGGGCTTAGGTCGGCGGGAGAGGAGGTAAGAGGTCCACCTGGGGAACCCCTA
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>AIRE|326|protein
MATDAALRRLLRLHRTEIAVAVDSAFPLLHALADHDVVPEDKFQETLHLKEKEGCPQAFHALLSWLLTQDSTAILDFWRVLFKDYNLERYGRLQPILDSFPKDVD
LSQPRKGRKPPAVPKALVPPPRLPTKRKASEEARAAAPAALTPRGTASPGSQLKAKPPKKPESSAEQQRLPLGNGIQTMSASVQRAVAMSSGDVPGARGAVEGIL
IQQVFESGGSKKCIQVGGEFYTPSKFEDSGSGKNKARSSSGPKPLVRAKGAQGAAPGGGEARLGQQGSVPAPLALPSDPQLHQKNEDECAVCRDGGELICCDGCP
RAFHLACLSPPLREIPSGTWRCSSCLQATVQEVQPRAEEPRPQEPPVETPLPPGLRSAGEEVRGPPGEPLAGMDTTLVYKHLPAPPSAAPLPGLDSSALHPLLCV
GPEGQQNLAPGARCGVCGDGTDVLRCTHCAAAFHWRCHFPAGTSRPGTGLRCRSCSGDVTPAPVEGVLAPSPARLAPGPAKDDTASHEPALHRDDLESLLSEHTF
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MATDAALRRLLRLHRTEIAVAVDSAFPLLHALADHDVVPEDKFQETLHLKEKEGCPQAFHALLSWLLTQDSTAILDFWRVLFKDYNLERYGRLQPILDSFPKDVD
LSQPRKGRKPPAVPKALVPPPRLPTKRKASEEARAAAPAALTPRGTASPGSQLKAKPPKKPESSAEQQRLPLGNGIQTMSASVQRAVAMSSGDVPGARGAVEGIL
IQQVFESGGSKKCIQVGGEFYTPSKFEDSGSGKNKARSSSGPKPLVRAKGAQGAAPGGGEARLGQQGSVPAPLALPSDPQLHQKNEDECAVCRDGGELICCDGCP
RAFHLACLSPPLREIPSGTWRCSSCLQATVQEVQPRAEEPRPQEPPVETPLPPGLRSAGEEVRGPPGEPLAGMDTTLVYKHLPAPPSAAPLPGLDSSALHPLLCV
GPEGQQNLAPGARCGVCGDGTDVLRCTHCAAAFHWRCHFPAGTSRPGTGLRCRSCSGDVTPAPVEGVLAPSPARLAPGPAKDDTASHEPALHRDDLESLLSEHTF
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Evidence summary TopClick the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
| Evidences | Syndromic Gene | GWAS | CNV | Linkage | Association | Expression | NGS de novo | NGS Mosaic | NGS Other | Low-Scale Gene Studies | Total |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Score (No. of Studies) | No | 0 (1) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (3) |
Syndromic Autism Gene TopGenome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 1
| Reference | Stage | Platform | #Families | Affecteds | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||
| CAUCASIAN | |||||||||||
| Hussman, 2011_1 | Discovery | Illumina Infinium Human 1 M beadship | 597 | - (-) |  |  | ASD | - - |
- - | ||
Case Control Based Association Studies: 0
| Reference | Stage | Platform | ASD Cases | Normal Controls | Result | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| No Evidence. | ||||||||||||
CNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Jacquemont, 2006 | France | aCGH | | | ASD | - | - | - | - | 29 | - | 29 |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies TopNGS Mosaic SNV Studies Top| Reference | Case Number | Family Number | Mosaic Number | Title |
|---|---|---|---|---|
| Lim ET, 2017 | - | 5947 | 376 | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
NGS Other Studies Top Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.