ENST00000367627.8 TOR3A

Information
Transcript ID
ENST00000367627.8
Genome
hg38
Position
chr1:179,082,070-179,095,996
Strand
+
CDS length
1,194
Amino acid length
398
Gene symbol
TOR3A
Gene type
protein-coding
Gene description
torsin family 3 member A
Gene Entrez Gene ID
64222
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
1 179,082,070 179,082,387
2 179,082,940 179,083,053
3 179,085,628 179,085,893
4 179,087,911 179,088,089
5 179,094,093 179,094,217
6 179,094,968 179,095,996
CDS
Exon number Type Start Stop
1 CDS 179,082,129 179,082,387
2 CDS 179,082,940 179,083,053
3 CDS 179,085,628 179,085,893
4 CDS 179,087,911 179,088,089
5 CDS 179,094,093 179,094,217
6 CDS 179,094,968 179,095,218
Other genome
Genome Chromosome Start End Links
hg19 chr1 179,051,205 179,065,131 Link
CDS sequence
ATGCTTCGCGGTCCGTGGCGCCAGCTTTGGCTCTTTTTCCTGCTGCTGCTCCCGGGCGCGCCTGAGCCCCGCGGCGCCTCCAGGCCGTGGGAGGGAACCGACGAGCCGGGCTCGGCCTGGGCCTGGCCGGGCTTCCAGCGCCTGCAGGAGCAGCTCAGGGCGGCGGGTGCCCTCTCCAAGCGGTACTGGACGCTCTTCAGCTGCCAGGTGTGGCCCGACGACTGTGACGAGGACGAGGAGGCAGCCACGGGGCCCCTGGGCTGGCGCCTTCCTCTGTTGGGCCAGCGGTACCTGGACCTCCTGACCACGTGGTACTGCAGCTTCAAAGACTGCTGCCCTAGAGGGGATTGCAGAATCTCCAACAACTTTACAGGCTTAGAGTGGGACCTGAATGTGCGGCTGCATGGCCAGCATTTGGTCCAGCAGCTGGTCCTAAGAACAGTGAGGGGCTACTTAGAGACGCCCCAGCCAGAAAAGGCCCTTGCTCTGTCGTTCCACGGCTGGTCTGGCACAGGCAAGAACTTCGTGGCACGGATGCTGGTGGAGAACCTGTATCGGGACGGGCTGATGAGTGACTGTGTCAGGATGTTCATCGCCACGTTCCACTTTCCTCACCCCAAATATGTGGACCTGTACAAGGAGCAGCTGATGAGCCAGATCCGGGAGACGCAGCAGCTCTGCCACCAGACCCTGTTCATCTTCGATGAAGCGGAGAAGCTGCACCCAGGGCTGCTGGAGGTCCTTGGGCCACACTTAGAACGCCGGGCCCCTGAGGGCCACAGGGCTGAGTCTCCATGGACTATCTTTCTGTTTCTCAGTAATCTCAGGGGCGATATAATCAATGAGGTGGTCCTAAAGTTGCTCAAGGCTGGATGGTCCCGGGAAGAAATTACGATGGAACACCTGGAGCCCCACCTCCAGGCGGAGATTGTGGAGACCATAGACAATGGCTTTGGCCACAGCCGTCTTGTGAAGGAAAACCTGATTGACTACTTCATCCCCTTCCTGCCTTTGGAGTACCGTCACGTGAGGCTGTGTGCACGGGATGCCTTCCTGAGCCAGGAGCTCCTGTATAAAGAAGAGACACTGGATGAAATAGCCCAGATGATGGTGTATGTCCCCAAGGAGGAACAACTCTTTTCTTCCCAGGGCTGCAAGTCTATTTCCCAGAGGATTAACTACTTCCTGTCATGA
Amino sequence
MLRGPWRQLWLFFLLLLPGAPEPRGASRPWEGTDEPGSAWAWPGFQRLQEQLRAAGALSKRYWTLFSCQVWPDDCDEDEEAATGPLGWRLPLLGQRYLDLLTTWYCSFKDCCPRGDCRISNNFTGLEWDLNVRLHGQHLVQQLVLRTVRGYLETPQPEKALALSFHGWSGTGKNFVARMLVENLYRDGLMSDCVRMFIATFHFPHPKYVDLYKEQLMSQIRETQQLCHQTLFIFDEAEKLHPGLLEVLGPHLERRAPEGHRAESPWTIFLFLSNLRGDIINEVVLKLLKAGWSREEITMEHLEPHLQAEIVETIDNGFGHSRLVKENLIDYFIPFLPLEYRHVRLCARDAFLSQELLYKEETLDEIAQMMVYVPKEEQLFSSQGCKSISQRINYFLS*