ENST00000550286.5 AAAS

Information
Transcript ID
ENST00000550286.5
Genome
hg38
Position
chr12:53,307,460-53,324,758
Strand
-
CDS length
1,269
Amino acid length
423
Gene symbol
AAAS
Gene type
protein-coding
Gene description
aladin WD repeat nucleoporin
Gene Entrez Gene ID
8086
Variants

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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
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Target data :
MGeND data only
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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
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Target data :
MGeND data only
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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
15 53,307,460 53,307,713
14 53,307,845 53,307,929
13 53,308,052 53,308,133
12 53,308,282 53,308,349
11 53,308,435 53,308,528
10 53,308,725 53,308,815
9 53,308,960 53,309,020
8 53,309,157 53,309,281
7 53,309,601 53,309,721
6 53,314,298 53,314,441
5 53,314,751 53,314,849
4 53,315,094 53,315,140
3 53,315,727 53,315,782
2 53,320,565 53,320,692
1 53,324,562 53,324,758
CDS
Exon number Type Start Stop
15 CDS 53,307,489 53,307,713
14 CDS 53,307,845 53,307,929
13 CDS 53,308,052 53,308,133
12 CDS 53,308,282 53,308,349
11 CDS 53,308,435 53,308,528
10 CDS 53,308,725 53,308,815
9 CDS 53,308,960 53,309,020
8 CDS 53,309,157 53,309,281
7 CDS 53,309,601 53,309,721
6 CDS 53,314,298 53,314,441
5 CDS 53,314,751 53,314,849
4 CDS 53,315,094 53,315,140
3 CDS 53,315,727 53,315,753
Other genome
Genome Chromosome Start End Links
hg19 chr12 53,701,244 53,718,542 Link
CDS sequence
ATGAAATTGCAAACTCAGAAGAAGAGGCTCAGGAGCGAAGATCTGATCGCTGAATTTGCCCAAGTCACAAATTGGTCCAGCTGCTGCTTGCGTGTCTTTGCATGGCACCCCCACACCAACAAGTTTGCAGTGGCCCTGCTAGATGACTCAGTCCGTGTGTATAATGCCAGCAGCACCATAGTCCCCTCCCTGAAGCACCGGCTGCAGCGAAATGTGGCGTCTCTGGCCTGGAAGCCCCTTAGTGCCTCTGTCTTGGCTGTGGCCTGCCAGAGCTGCATTCTTATCTGGACCCTGGACCCTACCTCCTTGTCTACCCGACCCTCTTCTGGCTGTGCCCAAGTGCTGTCTCACCCTGGGCATACACCTGTTACCAGCTTGGCCTGGGCCCCCAGTGGGGGGCGGCTGCTCTCAGCTTCACCCGTGGATGCTGCTATCCGGGTATGGGATGTCTCAACAGAGACCTGTGTCCCCCTTCCCTGGTTCCGAGGAGGTGGGGTGACCAACCTGCTCTGGTCCCCAGACGGCAGCAAAATCCTGGCTACCACTCCTTCAGCTGTCTTTCGAGTCTGGGAGGCCCAGATGTGGACTTGTGAGAGGTGGCCTACTCTATCAGGGCGCTGTCAGACTGGCTGCTGGAGCCCAGATGGCAGCCGACTGCTGTTCACTGTATTGGGAGAGCCACTGATTTACTCCCTGTCTTTTCCAGAACGTTGTGGTGAGGGAAAGGGGTGCGTTGGAGGTGCAAAGTCAGCAACGATTGTGGCAGATCTGTCTGAGACAACAATACAGACACCAGATGGTGAGGAGAGGCTTGGGGGAGAGGCTCACTCCATGGTCTGGGACCCCAGTGGGGAACGTCTGGCTGTGCTTATGAAAGGAAAGCCAAGGGTACAGGATGGTAAACCAGTCATCCTCCTTTTTCGCACTCGAAACAGCCCTGTGTTTGAGCTCCTTCCCTGTGGCATTATCCAGGGGGAGCCAGGAGCCCAGCCCCAGCTCATCACTTTCCATCCTTCCTTCAACAAAGGGGCCCTGCTCAGTGTGGGCTGGTCCACAGGCCGAATTGCCCACATCCCGCTGTACTTTGTCAATGCCCAGTTTCCACGTTTTAGCCCAGTGCTTGGGCGGGCCCAGGAACCCCCTGCTGGGGGTGGAGGCTCTATTCATGACCTGCCCCTCTTTACTGAGACATCCCCAACCTCTGCCCCTTGGGACCCTCTCCCAGGGCCACCACCTGTTCTGCCCCACTCCCCACATTCCCACCTCTAA
Amino sequence
MKLQTQKKRLRSEDLIAEFAQVTNWSSCCLRVFAWHPHTNKFAVALLDDSVRVYNASSTIVPSLKHRLQRNVASLAWKPLSASVLAVACQSCILIWTLDPTSLSTRPSSGCAQVLSHPGHTPVTSLAWAPSGGRLLSASPVDAAIRVWDVSTETCVPLPWFRGGGVTNLLWSPDGSKILATTPSAVFRVWEAQMWTCERWPTLSGRCQTGCWSPDGSRLLFTVLGEPLIYSLSFPERCGEGKGCVGGAKSATIVADLSETTIQTPDGEERLGGEAHSMVWDPSGERLAVLMKGKPRVQDGKPVILLFRTRNSPVFELLPCGIIQGEPGAQPQLITFHPSFNKGALLSVGWSTGRIAHIPLYFVNAQFPRFSPVLGRAQEPPAGGGGSIHDLPLFTETSPTSAPWDPLPGPPPVLPHSPHSHL*