ENST00000392784.6 USP30

Information
Transcript ID
ENST00000392784.6
Genome
hg19
Position
chr12:109,460,894-109,524,182
Strand
+
CDS length
1,461
Amino acid length
487
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
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
1 109,460,894 109,460,972
2 109,462,608 109,462,877
3 109,465,270 109,465,361
4 109,485,395 109,485,519
5 109,494,487 109,494,596
6 109,495,731 109,495,913
7 109,505,329 109,505,432
8 109,509,417 109,509,515
9 109,510,110 109,510,155
10 109,511,243 109,511,337
11 109,519,139 109,519,198
12 109,519,738 109,519,824
13 109,520,468 109,520,548
14 109,520,648 109,520,867
15 109,522,758 109,522,878
16 109,523,472 109,524,182
CDS
Exon number Type Start Stop
5 CDS 109,494,497 109,494,596
6 CDS 109,495,731 109,495,913
7 CDS 109,505,329 109,505,432
8 CDS 109,509,417 109,509,515
9 CDS 109,510,110 109,510,155
10 CDS 109,511,243 109,511,337
11 CDS 109,519,139 109,519,198
12 CDS 109,519,738 109,519,824
13 CDS 109,520,468 109,520,548
14 CDS 109,520,648 109,520,867
15 CDS 109,522,758 109,522,878
16 CDS 109,523,472 109,523,736
Other genome
Genome Chromosome Start End Links
hg38 chr12 109,023,089 109,086,377 Link
CDS sequence
ATGAAGAACTGGGGAGTTATAGGTGGAATTGCTGCTGCTCTTGCAGCAGGAATATATGTTATTTGGGGTCCCATTACAGAAAGAAAGAAGCGTAGAAAAGGGCTTGTGCCTGGCCTTGTTAATTTAGGGAACACCTGCTTCATGAACTCCCTGCTACAAGGCCTGTCTGCCTGTCCTGCTTTCATCAGGTGGCTGGAAGAGTTCACCTCCCAGTACTCCAGGGATCAGAAGGAGCCCCCCTCACACCAGTATTTATCCTTAACACTCTTGCACCTTCTGAAAGCCTTGTCCTGCCAAGAAGTTACTGATGATGAGGTCTTAGATGCAAGCTGCTTGTTGGATGTCTTAAGAATGTACAGATGGCAGATCTCATCATTTGAAGAACAGGATGCTCACGAATTATTCCATGTCATTACCTCGTCATTGGAAGATGAGCGAGACCGCCAGCCTCGGGTCACACATTTGTTTGATGTGCATTCCCTGGAGCAGCAGTCAGAAATAACTCCCAAACAAATTACCTGCCGCACAAGAGGGTCACCTCACCCTACATCCAATCACTGGAAGTCTCAACATCCTTTTCATGGAAGACTCACTAGTAATATGGTCTGCAAACACTGTGAACACCAGAGTCCTGTTCGATTTGATACCTTTGATAGCCTTTCACTAAGTATTCCAGCCGCCACATGGGGTCACCCATTGACCCTGGACCACTGCCTTCACCACTTCATCTCATCAGAATCAGTGCGGGATGTTGTGTGTGACAACTGTACAAAGATTGAAGCCAAGGGAACGTTGAACGGGGAAAAGGTGGAACACCAGAGGACCACTTTTGTTAAACAGTTAAAACTAGGGAAGCTCCCTCAGTGTCTCTGCATCCACCTACAGCGGCTGAGCTGGTCCAGCCACGGCACGCCTCTGAAGCGGCATGAGCACGTGCAGTTCAATGAGTTCCTGATGATGGACATTTACAAGTACCACCTCCTTGGACATAAACCTAGTCAACACAACCCTAAACTGAACAAGAACCCAGGGCCTACACTGGAGCTGCAGGATGGGCCGGGAGCCCCCACACCAGTTCTGAATCAGCCAGGGGCCCCCAAAACACAGATTTTTATGAATGGCGCCTGCTCCCCATCTTTATTGCCAACGCTGTCAGCGCCGATGCCCTTCCCTCTCCCAGTTGTTCCCGACTACAGCTCCTCCACATACCTCTTCCGGCTGATGGCAGTTGTCGTCCACCATGGAGACATGCACTCTGGACACTTTGTCACTTACCGACGGTCCCCACCTTCTGCCAGGAACCCTCTCTCAACTAGCAATCAGTGGCTGTGGGTCTCCGATGACACTGTCCGCAAGGCCAGCCTGCAGGAGGTCCTGTCCTCCAGCGCCTACCTGCTGTTCTACGAGCGCGTCCTTTCCAGGATGCAGCACCAGAGCCAGGAGTGCAAGTCTGAAGAATGA
Amino sequence
MKNWGVIGGIAAALAAGIYVIWGPITERKKRRKGLVPGLVNLGNTCFMNSLLQGLSACPAFIRWLEEFTSQYSRDQKEPPSHQYLSLTLLHLLKALSCQEVTDDEVLDASCLLDVLRMYRWQISSFEEQDAHELFHVITSSLEDERDRQPRVTHLFDVHSLEQQSEITPKQITCRTRGSPHPTSNHWKSQHPFHGRLTSNMVCKHCEHQSPVRFDTFDSLSLSIPAATWGHPLTLDHCLHHFISSESVRDVVCDNCTKIEAKGTLNGEKVEHQRTTFVKQLKLGKLPQCLCIHLQRLSWSSHGTPLKRHEHVQFNEFLMMDIYKYHLLGHKPSQHNPKLNKNPGPTLELQDGPGAPTPVLNQPGAPKTQIFMNGACSPSLLPTLSAPMPFPLPVVPDYSSSTYLFRLMAVVVHHGDMHSGHFVTYRRSPPSARNPLSTSNQWLWVSDDTVRKASLQEVLSSSAYLLFYERVLSRMQHQSQECKSEE*