ENST00000376649.8 PUS1

Information
Transcript ID
ENST00000376649.8
Genome
hg19
Position
chr12:132,413,821-132,430,441
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


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
1 132,413,821 132,414,341
2 132,414,452 132,414,680
3 132,416,720 132,416,857
4 132,423,718 132,423,820
5 132,425,837 132,426,528
6 132,428,084 132,430,441
CDS
Exon number Type Start Stop
1 CDS 132,414,268 132,414,341
2 CDS 132,414,452 132,414,680
3 CDS 132,416,720 132,416,857
4 CDS 132,423,718 132,423,820
5 CDS 132,425,837 132,426,528
6 CDS 132,428,084 132,428,131
Other genome
Genome Chromosome Start End Links
hg38 chr12 131,929,276 131,945,896 Link
CDS sequence
ATGGGCCTCCAGCTTCGCGCGCTGTTGGGAGCCTTCGGACGGTGGACCCTGCGCCTGGGACCGCGTCCGTCCTGCTCGCCGCGCATGGCCGGGAACGCGGAGCCGCCGCCCGCCGGAGCCGCATGCCCCCAGGACCGGAGGTCCTGCAGCGGCCGGGCCGGGGGCGACCGCGTCTGGGAGGACGGAGAACATCCGGCGAAGAAGCTCAAGAGCGGTGGCGACGAGGAGCGGCGCGAGAAGCCGCCCAAGCGGAAGATCGTGCTGCTCATGGCCTATTCGGGCAAGGGCTACCACGGCATGCAGAGGAATGTCGGGTCCTCACAATTCAAAACAATTGAAGATGACTTGGTGTCCGCCCTCGTCCGGTCAGGCTGTATTCCTGAAAATCATGGTGAGGACATGAGGAAAATGTCCTTCCAGCGCTGCGCCCGGACAGACAAGGGTGTGTCCGCAGCCGGCCAGGTGGTATCCCTGAAGGTGTGGCTGATTGACGACATTCTAGAAAAGATCAACAGCCACCTTCCCTCTCACATTCGGATTCTGGGACTGAAGCGGGTCACGGGCGGGTTTAACTCCAAGAACAGATGTGATGCCAGGACCTATTGCTACCTGCTGCCCACGTTTGCCTTTGCGCACAAGGACCGGGACGTTCAGGATGAGACCTACCGCCTGAGCGCCGAGACGCTGCAGCAGGTCAACAGGCTCCTGGCCTGCTACAAGGGCACGCACAACTTCCACAATTTCACCTCGCAGAAGGGGCCGCAGGATCCCAGTGCCTGCCGCTACATCCTGGAGATGTACTGCGAGGAACCCTTTGTGCGGGAGGGCCTGGAGTTTGCGGTGATCAGGGTGAAGGGCCAGAGCTTCATGATGCATCAGATCCGGAAGATGGTCGGCCTGGTGGTGGCCATTGTGAAGGGTTATGCCCCTGAGAGCGTGCTGGAGCGCAGCTGGGGCACAGAGAAGGTGGACGTGCCCAAGGCGCCCGGACTCGGCCTGGTCCTGGAGAGGGTGCACTTCGAGAAGTACAACCAGCGCTTTGGCAACGATGGGCTGCATGAGCCGCTGGACTGGGCGCAGGAGGAAGGAAAGGTCGCAGCCTTCAAGGAGGAGCACATCTACCCCACCATCATCGGCACCGAGCGGGACGAACGCTCCATGGCCCAGTGGCTGAGCACCTTGCCCATCCACAACTTCAGTGCCACCGCTCTCACGGCAGGTGGCACGGGCGCCAAGGTGCCCAGTCCCCTGGAAGGCAGTGAAGGGGACGGAGACACTGACTGA
Amino sequence
MGLQLRALLGAFGRWTLRLGPRPSCSPRMAGNAEPPPAGAACPQDRRSCSGRAGGDRVWEDGEHPAKKLKSGGDEERREKPPKRKIVLLMAYSGKGYHGMQRNVGSSQFKTIEDDLVSALVRSGCIPENHGEDMRKMSFQRCARTDKGVSAAGQVVSLKVWLIDDILEKINSHLPSHIRILGLKRVTGGFNSKNRCDARTYCYLLPTFAFAHKDRDVQDETYRLSAETLQQVNRLLACYKGTHNFHNFTSQKGPQDPSACRYILEMYCEEPFVREGLEFAVIRVKGQSFMMHQIRKMVGLVVAIVKGYAPESVLERSWGTEKVDVPKAPGLGLVLERVHFEKYNQRFGNDGLHEPLDWAQEEGKVAAFKEEHIYPTIIGTERDERSMAQWLSTLPIHNFSATALTAGGTGAKVPSPLEGSEGDGDTD*