ENST00000535067.5 PUS1

Information
Transcript ID
ENST00000535067.5
Genome
hg19
Position
chr12:132,414,300-132,428,402
Strand
+
CDS length
405
Amino acid length
135
Gene symbol
PUS1
Gene type
protein-coding
Gene description
pseudouridine synthase 1
Gene Entrez Gene ID
80324
Variants

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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
1 132,414,300 132,414,680
2 132,416,720 132,416,857
3 132,428,084 132,428,402
CDS
Exon number Type Start Stop
1 CDS 132,414,462 132,414,680
2 CDS 132,416,720 132,416,857
3 CDS 132,428,084 132,428,131
Other genome
Genome Chromosome Start End Links
hg38 chr12 131,929,755 131,943,857 Link
CDS sequence
ATGGCCGGGAACGCGGAGCCGCCGCCCGCCGGAGCCGCATGCCCCCAGGACCGGAGGTCCTGCAGCGGCCGGGCCGGGGGCGACCGCGTCTGGGAGGACGGAGAACATCCGGCGAAGAAGCTCAAGAGCGGTGGCGACGAGGAGCGGCGCGAGAAGCCGCCCAAGCGGAAGATCGTGCTGCTCATGGCCTATTCGGGCAAGGGCTACCACGGCATGCAGAGGAATGTCGGGTCCTCACAATTCAAAACAATTGAAGATGACTTGGTGTCCGCCCTCGTCCGGTCAGGCTGTATTCCTGAAAATCATGGTGAGGACATGAGGAAAATGTCCTTCCAGCGCTGCGCCCGGACAGACAAGGTGCCCAGTCCCCTGGAAGGCAGTGAAGGGGACGGAGACACTGACTGA
Amino sequence
MAGNAEPPPAGAACPQDRRSCSGRAGGDRVWEDGEHPAKKLKSGGDEERREKPPKRKIVLLMAYSGKGYHGMQRNVGSSQFKTIEDDLVSALVRSGCIPENHGEDMRKMSFQRCARTDKVPSPLEGSEGDGDTD*