ENST00000542167.2 PUS1

Information
Transcript ID
ENST00000542167.2
Genome
hg38
Position
chr12:131,929,276-131,943,859
Strand
+
CDS length
1,125
Amino acid length
375
Gene symbol
PUS1
Gene type
protein-coding
Gene description
pseudouridine synthase 1
Gene Entrez Gene ID
80324
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
Search Word
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
1 131,929,276 131,929,512
2 131,931,515 131,932,312
3 131,939,173 131,939,275
4 131,941,292 131,941,983
5 131,943,539 131,943,859
CDS
Exon number Type Start Stop
2 CDS 131,932,031 131,932,312
3 CDS 131,939,173 131,939,275
4 CDS 131,941,292 131,941,983
5 CDS 131,943,539 131,943,586
Other genome
Genome Chromosome Start End Links
hg19 chr12 132,413,821 132,428,404 Link
CDS sequence
ATGAGCGTGGCAGCTCACACTTGTAATCTCAGCACTTCAGGAGGCCAGAGGAGTAAGCGGCCAGGAGTTCGAGACCAGCCTGGGCAACATCATGGCGACCTCTGTCTGCAAAATATAAAATCTGTTTTTGTCTCCTTTTTCCAGAGGAATGTCGGGTCCTCACAATTCAAAACAATTGAAGATGACTTGGTGTCCGCCCTCGTCCGGTCAGGCTGTATTCCTGAAAATCATGGTGAGGACATGAGGAAAATGTCCTTCCAGCGCTGCGCCCGGACAGACAAGGGTGTGTCCGCAGCCGGCCAGGTGGTATCCCTGAAGGTGTGGCTGATTGACGACATTCTAGAAAAGATCAACAGCCACCTTCCCTCTCACATTCGGATTCTGGGACTGAAGCGGGTCACGGGCGGGTTTAACTCCAAGAACAGATGTGATGCCAGGACCTATTGCTACCTGCTGCCCACGTTTGCCTTTGCGCACAAGGACCGGGACGTTCAGGATGAGACCTACCGCCTGAGCGCCGAGACGCTGCAGCAGGTCAACAGGCTCCTGGCCTGCTACAAGGGCACGCACAACTTCCACAATTTCACCTCGCAGAAGGGGCCGCAGGATCCCAGTGCCTGCCGCTACATCCTGGAGATGTACTGCGAGGAACCCTTTGTGCGGGAGGGCCTGGAGTTTGCGGTGATCAGGGTGAAGGGCCAGAGCTTCATGATGCATCAGATCCGGAAGATGGTCGGCCTGGTGGTGGCCATTGTGAAGGGTTATGCCCCTGAGAGCGTGCTGGAGCGCAGCTGGGGCACAGAGAAGGTGGACGTGCCCAAGGCGCCCGGACTCGGCCTGGTCCTGGAGAGGGTGCACTTCGAGAAGTACAACCAGCGCTTTGGCAACGATGGGCTGCATGAGCCGCTGGACTGGGCGCAGGAGGAAGGAAAGGTCGCAGCCTTCAAGGAGGAGCACATCTACCCCACCATCATCGGCACCGAGCGGGACGAACGCTCCATGGCCCAGTGGCTGAGCACCTTGCCCATCCACAACTTCAGTGCCACCGCTCTCACGGCAGGTGGCACGGGCGCCAAGGTGCCCAGTCCCCTGGAAGGCAGTGAAGGGGACGGAGACACTGACTGA
Amino sequence
MSVAAHTCNLSTSGGQRSKRPGVRDQPGQHHGDLCLQNIKSVFVSFFQRNVGSSQFKTIEDDLVSALVRSGCIPENHGEDMRKMSFQRCARTDKGVSAAGQVVSLKVWLIDDILEKINSHLPSHIRILGLKRVTGGFNSKNRCDARTYCYLLPTFAFAHKDRDVQDETYRLSAETLQQVNRLLACYKGTHNFHNFTSQKGPQDPSACRYILEMYCEEPFVREGLEFAVIRVKGQSFMMHQIRKMVGLVVAIVKGYAPESVLERSWGTEKVDVPKAPGLGLVLERVHFEKYNQRFGNDGLHEPLDWAQEEGKVAAFKEEHIYPTIIGTERDERSMAQWLSTLPIHNFSATALTAGGTGAKVPSPLEGSEGDGDTD*