ENST00000376649.8 PUS1

Information
Transcript ID
ENST00000376649.8
Genome
hg38
Position
chr12:131,929,276-131,945,896
Strand
+
CDS length
1,284
Amino acid length
428
Gene symbol
PUS1
Gene type
protein-coding
Gene description
pseudouridine synthase 1
Gene Entrez Gene ID
80324
Variants

Display target variant


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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
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
1 131,929,276 131,929,796
2 131,929,907 131,930,135
3 131,932,175 131,932,312
4 131,939,173 131,939,275
5 131,941,292 131,941,983
6 131,943,539 131,945,896
CDS
Exon number Type Start Stop
1 CDS 131,929,723 131,929,796
2 CDS 131,929,907 131,930,135
3 CDS 131,932,175 131,932,312
4 CDS 131,939,173 131,939,275
5 CDS 131,941,292 131,941,983
6 CDS 131,943,539 131,943,586
Other genome
Genome Chromosome Start End Links
hg19 chr12 132,413,821 132,430,441 Link
CDS sequence
ATGGGCCTCCAGCTTCGCGCGCTGTTGGGAGCCTTCGGACGGTGGACCCTGCGCCTGGGACCGCGTCCGTCCTGCTCGCCGCGCATGGCCGGGAACGCGGAGCCGCCGCCCGCCGGAGCCGCATGCCCCCAGGACCGGAGGTCCTGCAGCGGCCGGGCCGGGGGCGACCGCGTCTGGGAGGACGGAGAACATCCGGCGAAGAAGCTCAAGAGCGGTGGCGACGAGGAGCGGCGCGAGAAGCCGCCCAAGCGGAAGATCGTGCTGCTCATGGCCTATTCGGGCAAGGGCTACCACGGCATGCAGAGGAATGTCGGGTCCTCACAATTCAAAACAATTGAAGATGACTTGGTGTCCGCCCTCGTCCGGTCAGGCTGTATTCCTGAAAATCATGGTGAGGACATGAGGAAAATGTCCTTCCAGCGCTGCGCCCGGACAGACAAGGGTGTGTCCGCAGCCGGCCAGGTGGTATCCCTGAAGGTGTGGCTGATTGACGACATTCTAGAAAAGATCAACAGCCACCTTCCCTCTCACATTCGGATTCTGGGACTGAAGCGGGTCACGGGCGGGTTTAACTCCAAGAACAGATGTGATGCCAGGACCTATTGCTACCTGCTGCCCACGTTTGCCTTTGCGCACAAGGACCGGGACGTTCAGGATGAGACCTACCGCCTGAGCGCCGAGACGCTGCAGCAGGTCAACAGGCTCCTGGCCTGCTACAAGGGCACGCACAACTTCCACAATTTCACCTCGCAGAAGGGGCCGCAGGATCCCAGTGCCTGCCGCTACATCCTGGAGATGTACTGCGAGGAACCCTTTGTGCGGGAGGGCCTGGAGTTTGCGGTGATCAGGGTGAAGGGCCAGAGCTTCATGATGCATCAGATCCGGAAGATGGTCGGCCTGGTGGTGGCCATTGTGAAGGGTTATGCCCCTGAGAGCGTGCTGGAGCGCAGCTGGGGCACAGAGAAGGTGGACGTGCCCAAGGCGCCCGGACTCGGCCTGGTCCTGGAGAGGGTGCACTTCGAGAAGTACAACCAGCGCTTTGGCAACGATGGGCTGCATGAGCCGCTGGACTGGGCGCAGGAGGAAGGAAAGGTCGCAGCCTTCAAGGAGGAGCACATCTACCCCACCATCATCGGCACCGAGCGGGACGAACGCTCCATGGCCCAGTGGCTGAGCACCTTGCCCATCCACAACTTCAGTGCCACCGCTCTCACGGCAGGTGGCACGGGCGCCAAGGTGCCCAGTCCCCTGGAAGGCAGTGAAGGGGACGGAGACACTGACTGA
Amino sequence
MGLQLRALLGAFGRWTLRLGPRPSCSPRMAGNAEPPPAGAACPQDRRSCSGRAGGDRVWEDGEHPAKKLKSGGDEERREKPPKRKIVLLMAYSGKGYHGMQRNVGSSQFKTIEDDLVSALVRSGCIPENHGEDMRKMSFQRCARTDKGVSAAGQVVSLKVWLIDDILEKINSHLPSHIRILGLKRVTGGFNSKNRCDARTYCYLLPTFAFAHKDRDVQDETYRLSAETLQQVNRLLACYKGTHNFHNFTSQKGPQDPSACRYILEMYCEEPFVREGLEFAVIRVKGQSFMMHQIRKMVGLVVAIVKGYAPESVLERSWGTEKVDVPKAPGLGLVLERVHFEKYNQRFGNDGLHEPLDWAQEEGKVAAFKEEHIYPTIIGTERDERSMAQWLSTLPIHNFSATALTAGGTGAKVPSPLEGSEGDGDTD*