ENST00000367627.8 TOR3A

Information
Transcript ID
ENST00000367627.8
Genome
hg19
Position
chr1:179,051,205-179,065,131
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
1 179,051,205 179,051,522
2 179,052,075 179,052,188
3 179,054,763 179,055,028
4 179,057,046 179,057,224
5 179,063,228 179,063,352
6 179,064,103 179,065,131
CDS
Exon number Type Start Stop
1 CDS 179,051,264 179,051,522
2 CDS 179,052,075 179,052,188
3 CDS 179,054,763 179,055,028
4 CDS 179,057,046 179,057,224
5 CDS 179,063,228 179,063,352
6 CDS 179,064,103 179,064,353
Other genome
Genome Chromosome Start End Links
hg38 chr1 179,082,070 179,095,996 Link
CDS sequence
ATGCTTCGCGGTCCGTGGCGCCAGCTTTGGCTCTTTTTCCTGCTGCTGCTCCCGGGCGCGCCTGAGCCCCGCGGCGCCTCCAGGCCGTGGGAGGGAACCGACGAGCCGGGCTCGGCCTGGGCCTGGCCGGGCTTCCAGCGCCTGCAGGAGCAGCTCAGGGCGGCGGGTGCCCTCTCCAAGCGGTACTGGACGCTCTTCAGCTGCCAGGTGTGGCCCGACGACTGTGACGAGGACGAGGAGGCAGCCACGGGGCCCCTGGGCTGGCGCCTTCCTCTGTTGGGCCAGCGGTACCTGGACCTCCTGACCACGTGGTACTGCAGCTTCAAAGACTGCTGCCCTAGAGGGGATTGCAGAATCTCCAACAACTTTACAGGCTTAGAGTGGGACCTGAATGTGCGGCTGCATGGCCAGCATTTGGTCCAGCAGCTGGTCCTAAGAACAGTGAGGGGCTACTTAGAGACGCCCCAGCCAGAAAAGGCCCTTGCTCTGTCGTTCCACGGCTGGTCTGGCACAGGCAAGAACTTCGTGGCACGGATGCTGGTGGAGAACCTGTATCGGGACGGGCTGATGAGTGACTGTGTCAGGATGTTCATCGCCACGTTCCACTTTCCTCACCCCAAATATGTGGACCTGTACAAGGAGCAGCTGATGAGCCAGATCCGGGAGACGCAGCAGCTCTGCCACCAGACCCTGTTCATCTTCGATGAAGCGGAGAAGCTGCACCCAGGGCTGCTGGAGGTCCTTGGGCCACACTTAGAACGCCGGGCCCCTGAGGGCCACAGGGCTGAGTCTCCATGGACTATCTTTCTGTTTCTCAGTAATCTCAGGGGCGATATAATCAATGAGGTGGTCCTAAAGTTGCTCAAGGCTGGATGGTCCCGGGAAGAAATTACGATGGAACACCTGGAGCCCCACCTCCAGGCGGAGATTGTGGAGACCATAGACAATGGCTTTGGCCACAGCCGTCTTGTGAAGGAAAACCTGATTGACTACTTCATCCCCTTCCTGCCTTTGGAGTACCGTCACGTGAGGCTGTGTGCACGGGATGCCTTCCTGAGCCAGGAGCTCCTGTATAAAGAAGAGACACTGGATGAAATAGCCCAGATGATGGTGTATGTCCCCAAGGAGGAACAACTCTTTTCTTCCCAGGGCTGCAAGTCTATTTCCCAGAGGATTAACTACTTCCTGTCATGA
Amino sequence
MLRGPWRQLWLFFLLLLPGAPEPRGASRPWEGTDEPGSAWAWPGFQRLQEQLRAAGALSKRYWTLFSCQVWPDDCDEDEEAATGPLGWRLPLLGQRYLDLLTTWYCSFKDCCPRGDCRISNNFTGLEWDLNVRLHGQHLVQQLVLRTVRGYLETPQPEKALALSFHGWSGTGKNFVARMLVENLYRDGLMSDCVRMFIATFHFPHPKYVDLYKEQLMSQIRETQQLCHQTLFIFDEAEKLHPGLLEVLGPHLERRAPEGHRAESPWTIFLFLSNLRGDIINEVVLKLLKAGWSREEITMEHLEPHLQAEIVETIDNGFGHSRLVKENLIDYFIPFLPLEYRHVRLCARDAFLSQELLYKEETLDEIAQMMVYVPKEEQLFSSQGCKSISQRINYFLS*