ENST00000291582.6 AIRE

Information
Transcript ID
ENST00000291582.6
Genome
hg19
Position
chr21:45,705,759-45,718,531
Strand
+
CDS length
1,638
Amino acid length
546
Gene symbol
AIRE
Gene type
protein-coding
Gene description
autoimmune regulator
Gene Entrez Gene ID
326
Variants

Display target variant


Search Word
Target data :
MGeND data only
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Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
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Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
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Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Exon
Exon number Start Stop
1 45,705,759 45,706,021
2 45,706,440 45,706,614
3 45,706,861 45,707,016
4 45,707,400 45,707,474
5 45,708,228 45,708,341
6 45,709,540 45,709,685
7 45,709,871 45,709,951
8 45,710,978 45,711,093
9 45,712,185 45,712,284
10 45,712,876 45,713,058
11 45,713,672 45,713,793
12 45,714,284 45,714,386
13 45,716,266 45,716,328
14 45,717,539 45,718,531
CDS
Exon number Type Start Stop
1 CDS 45,705,890 45,706,021
2 CDS 45,706,440 45,706,614
3 CDS 45,706,861 45,707,016
4 CDS 45,707,400 45,707,474
5 CDS 45,708,228 45,708,341
6 CDS 45,709,540 45,709,685
7 CDS 45,709,871 45,709,951
8 CDS 45,710,978 45,711,093
9 CDS 45,712,185 45,712,284
10 CDS 45,712,876 45,713,058
11 CDS 45,713,672 45,713,793
12 CDS 45,714,284 45,714,386
13 CDS 45,716,266 45,716,328
14 CDS 45,717,539 45,717,610
Other genome
Genome Chromosome Start End Links
hg38 chr21 44,285,876 44,298,648 Link
CDS sequence
ATGGCGACGGACGCGGCGCTACGCCGGCTTCTGAGGCTGCACCGCACGGAGATCGCGGTGGCCGTGGACAGCGCCTTCCCACTGCTGCACGCGCTGGCTGACCACGACGTGGTCCCCGAGGACAAGTTTCAGGAGACGCTTCATCTGAAGGAAAAGGAGGGCTGCCCCCAGGCCTTCCACGCCCTCCTGTCCTGGCTGCTGACCCAGGACTCCACAGCCATCCTGGACTTCTGGAGGGTGCTGTTCAAGGACTACAACCTGGAGCGCTATGGCCGGCTGCAGCCCATCCTGGACAGCTTCCCCAAAGATGTGGACCTCAGCCAGCCCCGGAAGGGGAGGAAGCCCCCGGCCGTCCCCAAGGCTTTGGTACCGCCACCCAGACTCCCCACCAAGAGGAAGGCCTCAGAAGAGGCTCGAGCTGCCGCGCCAGCAGCCCTGACTCCAAGGGGCACCGCCAGCCCAGGCTCTCAACTGAAGGCCAAGCCCCCCAAGAAGCCGGAGAGCAGCGCAGAGCAGCAGCGCCTTCCACTCGGGAACGGGATTCAGACCATGTCAGCTTCAGTCCAGAGAGCTGTGGCCATGTCCTCCGGGGACGTCCCGGGAGCCCGAGGGGCCGTGGAGGGGATCCTCATCCAGCAGGTGTTTGAGTCAGGCGGCTCCAAGAAGTGCATCCAGGTTGGCGGGGAGTTCTACACTCCCAGCAAGTTCGAAGACTCCGGCAGTGGGAAGAACAAGGCCCGCAGCAGCAGTGGCCCGAAGCCTCTGGTTCGAGCCAAGGGAGCCCAGGGCGCTGCCCCCGGTGGAGGTGAGGCTAGGCTGGGCCAGCAGGGCAGCGTTCCCGCCCCTCTGGCCCTCCCCAGTGACCCCCAGCTCCACCAGAAGAATGAGGACGAGTGTGCCGTGTGTCGGGACGGCGGGGAGCTCATCTGCTGTGACGGCTGCCCTCGGGCCTTCCACCTGGCCTGCCTGTCCCCTCCGCTCCGGGAGATCCCCAGTGGGACCTGGAGGTGCTCCAGCTGCCTGCAGGCAACAGTCCAGGAGGTGCAGCCCCGGGCAGAGGAGCCCCGGCCCCAGGAGCCACCCGTGGAGACCCCGCTCCCCCCGGGGCTTAGGTCGGCGGGAGAGGAGGTAAGAGGTCCACCTGGGGAACCCCTAGCCGGCATGGACACGACTCTTGTCTACAAGCACCTGCCGGCTCCGCCTTCTGCAGCCCCGCTGCCAGGGCTGGACTCCTCGGCCCTGCACCCCCTACTGTGTGTGGGTCCTGAGGGTCAGCAGAACCTGGCTCCTGGTGCGCGTTGCGGGGTGTGCGGAGATGGTACGGACGTGCTGCGGTGTACTCACTGCGCCGCTGCCTTCCACTGGCGCTGCCACTTCCCAGCCGGCACCTCCCGGCCCGGGACGGGCCTGCGCTGCAGATCCTGCTCAGGAGACGTGACCCCAGCCCCTGTGGAGGGGGTGCTGGCCCCCAGCCCCGCCCGCCTGGCCCCTGGGCCTGCCAAGGATGACACTGCCAGTCACGAGCCCGCTCTGCACAGGGATGACCTGGAGTCCCTTCTGAGCGAGCACACCTTCGATGGCATCCTGCAGTGGGCCATCCAGAGCATGGCCCGTCCGGCGGCCCCCTTCCCCTCCTGA
Amino sequence
MATDAALRRLLRLHRTEIAVAVDSAFPLLHALADHDVVPEDKFQETLHLKEKEGCPQAFHALLSWLLTQDSTAILDFWRVLFKDYNLERYGRLQPILDSFPKDVDLSQPRKGRKPPAVPKALVPPPRLPTKRKASEEARAAAPAALTPRGTASPGSQLKAKPPKKPESSAEQQRLPLGNGIQTMSASVQRAVAMSSGDVPGARGAVEGILIQQVFESGGSKKCIQVGGEFYTPSKFEDSGSGKNKARSSSGPKPLVRAKGAQGAAPGGGEARLGQQGSVPAPLALPSDPQLHQKNEDECAVCRDGGELICCDGCPRAFHLACLSPPLREIPSGTWRCSSCLQATVQEVQPRAEEPRPQEPPVETPLPPGLRSAGEEVRGPPGEPLAGMDTTLVYKHLPAPPSAAPLPGLDSSALHPLLCVGPEGQQNLAPGARCGVCGDGTDVLRCTHCAAAFHWRCHFPAGTSRPGTGLRCRSCSGDVTPAPVEGVLAPSPARLAPGPAKDDTASHEPALHRDDLESLLSEHTFDGILQWAIQSMARPAAPFPS*