ENST00000257548.10 USP30

Information
Transcript ID
ENST00000257548.10
Genome
hg19
Position
chr12:109,490,381-109,525,828
Strand
+
CDS length
1,554
Amino acid length
518
Gene symbol
USP30
Gene type
protein-coding
Gene description
ubiquitin specific peptidase 30
Gene Entrez Gene ID
84749
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
1 109,490,381 109,490,566
2 109,494,487 109,494,596
3 109,495,731 109,495,913
4 109,505,329 109,505,432
5 109,509,417 109,509,515
6 109,510,110 109,510,155
7 109,511,243 109,511,337
8 109,519,139 109,519,198
9 109,519,738 109,519,824
10 109,520,468 109,520,548
11 109,520,648 109,520,867
12 109,522,758 109,522,878
13 109,523,472 109,525,828
CDS
Exon number Type Start Stop
1 CDS 109,490,484 109,490,566
2 CDS 109,494,487 109,494,596
3 CDS 109,495,731 109,495,913
4 CDS 109,505,329 109,505,432
5 CDS 109,509,417 109,509,515
6 CDS 109,510,110 109,510,155
7 CDS 109,511,243 109,511,337
8 CDS 109,519,139 109,519,198
9 CDS 109,519,738 109,519,824
10 CDS 109,520,468 109,520,548
11 CDS 109,520,648 109,520,867
12 CDS 109,522,758 109,522,878
13 CDS 109,523,472 109,523,736
Other genome
Genome Chromosome Start End Links
hg38 chr12 109,052,576 109,088,023 Link
CDS sequence
ATGCTGAGCTCCCGGGCCGAGGCGGCGATGACCGCGGCCGACAGGGCCATCCAGCGCTTCCTGCGGACCGGGGCGGCCGTCAGATATAAAGTCATGAAGAACTGGGGAGTTATAGGTGGAATTGCTGCTGCTCTTGCAGCAGGAATATATGTTATTTGGGGTCCCATTACAGAAAGAAAGAAGCGTAGAAAAGGGCTTGTGCCTGGCCTTGTTAATTTAGGGAACACCTGCTTCATGAACTCCCTGCTACAAGGCCTGTCTGCCTGTCCTGCTTTCATCAGGTGGCTGGAAGAGTTCACCTCCCAGTACTCCAGGGATCAGAAGGAGCCCCCCTCACACCAGTATTTATCCTTAACACTCTTGCACCTTCTGAAAGCCTTGTCCTGCCAAGAAGTTACTGATGATGAGGTCTTAGATGCAAGCTGCTTGTTGGATGTCTTAAGAATGTACAGATGGCAGATCTCATCATTTGAAGAACAGGATGCTCACGAATTATTCCATGTCATTACCTCGTCATTGGAAGATGAGCGAGACCGCCAGCCTCGGGTCACACATTTGTTTGATGTGCATTCCCTGGAGCAGCAGTCAGAAATAACTCCCAAACAAATTACCTGCCGCACAAGAGGGTCACCTCACCCTACATCCAATCACTGGAAGTCTCAACATCCTTTTCATGGAAGACTCACTAGTAATATGGTCTGCAAACACTGTGAACACCAGAGTCCTGTTCGATTTGATACCTTTGATAGCCTTTCACTAAGTATTCCAGCCGCCACATGGGGTCACCCATTGACCCTGGACCACTGCCTTCACCACTTCATCTCATCAGAATCAGTGCGGGATGTTGTGTGTGACAACTGTACAAAGATTGAAGCCAAGGGAACGTTGAACGGGGAAAAGGTGGAACACCAGAGGACCACTTTTGTTAAACAGTTAAAACTAGGGAAGCTCCCTCAGTGTCTCTGCATCCACCTACAGCGGCTGAGCTGGTCCAGCCACGGCACGCCTCTGAAGCGGCATGAGCACGTGCAGTTCAATGAGTTCCTGATGATGGACATTTACAAGTACCACCTCCTTGGACATAAACCTAGTCAACACAACCCTAAACTGAACAAGAACCCAGGGCCTACACTGGAGCTGCAGGATGGGCCGGGAGCCCCCACACCAGTTCTGAATCAGCCAGGGGCCCCCAAAACACAGATTTTTATGAATGGCGCCTGCTCCCCATCTTTATTGCCAACGCTGTCAGCGCCGATGCCCTTCCCTCTCCCAGTTGTTCCCGACTACAGCTCCTCCACATACCTCTTCCGGCTGATGGCAGTTGTCGTCCACCATGGAGACATGCACTCTGGACACTTTGTCACTTACCGACGGTCCCCACCTTCTGCCAGGAACCCTCTCTCAACTAGCAATCAGTGGCTGTGGGTCTCCGATGACACTGTCCGCAAGGCCAGCCTGCAGGAGGTCCTGTCCTCCAGCGCCTACCTGCTGTTCTACGAGCGCGTCCTTTCCAGGATGCAGCACCAGAGCCAGGAGTGCAAGTCTGAAGAATGA
Amino sequence
MLSSRAEAAMTAADRAIQRFLRTGAAVRYKVMKNWGVIGGIAAALAAGIYVIWGPITERKKRRKGLVPGLVNLGNTCFMNSLLQGLSACPAFIRWLEEFTSQYSRDQKEPPSHQYLSLTLLHLLKALSCQEVTDDEVLDASCLLDVLRMYRWQISSFEEQDAHELFHVITSSLEDERDRQPRVTHLFDVHSLEQQSEITPKQITCRTRGSPHPTSNHWKSQHPFHGRLTSNMVCKHCEHQSPVRFDTFDSLSLSIPAATWGHPLTLDHCLHHFISSESVRDVVCDNCTKIEAKGTLNGEKVEHQRTTFVKQLKLGKLPQCLCIHLQRLSWSSHGTPLKRHEHVQFNEFLMMDIYKYHLLGHKPSQHNPKLNKNPGPTLELQDGPGAPTPVLNQPGAPKTQIFMNGACSPSLLPTLSAPMPFPLPVVPDYSSSTYLFRLMAVVVHHGDMHSGHFVTYRRSPPSARNPLSTSNQWLWVSDDTVRKASLQEVLSSSAYLLFYERVLSRMQHQSQECKSEE*