ENST00000271583.7 TOR1AIP1

Information
Transcript ID
ENST00000271583.7
Genome
hg19
Position
chr1:179,851,432-179,888,412
Strand
+
CDS length
1,800
Amino acid length
600
Gene symbol
TOR1AIP1
Gene type
protein-coding
Gene description
torsin 1A interacting protein 1
Gene Entrez Gene ID
26092
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
1 179,851,432 179,852,112
2 179,853,827 179,853,904
3 179,858,445 179,858,504
4 179,869,261 179,869,302
5 179,870,437 179,870,523
6 179,873,101 179,873,157
7 179,876,958 179,876,999
8 179,877,740 179,877,808
9 179,882,721 179,882,765
10 179,883,133 179,883,189
11 179,886,587 179,888,412
CDS
Exon number Type Start Stop
1 CDS 179,851,638 179,852,112
2 CDS 179,853,827 179,853,904
3 CDS 179,858,445 179,858,504
4 CDS 179,869,261 179,869,302
5 CDS 179,870,437 179,870,523
6 CDS 179,873,101 179,873,157
7 CDS 179,876,958 179,876,999
8 CDS 179,877,740 179,877,808
9 CDS 179,882,721 179,882,765
10 CDS 179,883,133 179,883,189
11 CDS 179,886,587 179,887,374
Other genome
Genome Chromosome Start End Links
hg38 chr1 179,882,297 179,919,277 Link
CDS sequence
ATGGCGGGCGACGGGCGGCGGGCAGAGGCGGTGCGGGAAGGATGGGGTGTGTACGTCACCCCCAGGGCCCCCATCCGAGAGGGAAGGGGCCGGCTCGCCCCTCAAAATGGCGGCAGCAGCGATGCGCCTGCGTACAGAACTCCTCCGTCGCGCCAGGGCCGGCGGGAAGTGAGGTTCTCGGACGAGCCGCCAGAAGTGTACGGCGACTTCGAGCCCCTGGTGGCCAAAGAAAGGTCCCCGGTGGGAAAACGAACCCGGCTAGAAGAGTTCCGGTCCGATTCTGCGAAAGAGGAAGTGAGAGAAAGCGCGTACTACCTTCGGTCTAGGCAGCGGAGGCAGCCGCGACCCCAGGAAACCGAGGAAATGAAGACGCGAAGGACTACCCGCCTTCAGCAGCAGCACTCAGAGCAGCCTCCGCTACAGCCGTCTCCTGTTATGACCAGGAGAGGGCTGCGGGACTCTCATTCCTCTGAAGAGGATGAAGCATCTTCCCAAACTGATTTAAGCCAAACGATCTCAAAGAAAACTGTCAGGAGCATACAAGAGGCTCCAGCAGTGAGTGAAGATCTTGTAATCAGGTTACGTCGACCCCCTCTAAGATACCCAAGATATGAAGCCACCAGTGTCCAACAGAAGGTCAATTTCTCTGAAGAAGGAGAAACTGAAGAAGATGATCAAGACAGCTCTCACAGCAGTGTCACTACTGTTAAGGCCAGATCCAGGGATTCTGATGAATCTGGAGATAAAACCACCAGATCATCTAGTCAATATATAGAATCATTTTGGCAGTCATCACAAAGTCAAAACTTCACAGCTCATGATAAGCAACCTTCAGTGCTAAGCTCAGGATATCAAAAAACTCCCCAGGAATGGGCCCCACAAACTGCAAGAATAAGGACCAGGATGCAAACATCTTCACCAGGCAAGAGTTCAATATATGGCAGTTTTTCAGATGATGACAGCATTCTGAAATCAGAGCTTGGAAACCAGTCACCATCAACCTCCAGCCGACAAGTGACTGGACAACCCCAAAATGCATCTTTTGTCAAGAGGAACCGGTGGTGGCTACTTCCTCTGATAGCTGCTCTTGCCTCTGGGAGTTTTTGGTTCTTTAGTACTCCTGAGGTAGAAACCACTGCTGTTCAAGAGTTCCAGAACCAGATGAATCAACTTAAGAATAAGTACCAAGGTCAAGATGAGAAGCTGTGGAAAAGGAGCCAAACATTCCTGGAAAAACATCTTAATAGCTCCCATCCTCGGTCTCAGCCTGCTATCTTACTGCTCACTGCTGCCCGAGATGCTGAAGAAGCACTTAGGTGTCTGAGTGAACAAATTGCTGATGCCTATTCTTCTTTTCGTAGTGTCCGTGCCATCCGGATTGATGGGACAGATAAAGCTACTCAAGACAGTGATACTGTCAAACTAGAGGTAGACCAAGAACTGAGCAATGGATTTAAGAATGGCCAGAATGCAGCTGTGGTACACCGCTTTGAGTCATTTCCCGCAGGCTCTACTTTGATCTTCTACAAATATTGTGACCATGAAAACGCGGCCTTCAAAGATGTAGCCTTAGTCCTGACTGTCTTATTGGAGGAAGAGACACTTGGAACAAGTCTAGGCCTAAAGGAAGTTGAAGAAAAAGTAAGAGATTTTCTTAAAGTCAAGTTCACCAATTCTAACACACCCAACTCCTACAATCATATGGACCCAGACAAACTGAATGGCCTCTGGAGCCGTATTTCTCACTTAGTTCTGCCTGTGCAACCTGAAAATGCCCTGAAAAGGGGCATCTGCTTATAA
Amino sequence
MAGDGRRAEAVREGWGVYVTPRAPIREGRGRLAPQNGGSSDAPAYRTPPSRQGRREVRFSDEPPEVYGDFEPLVAKERSPVGKRTRLEEFRSDSAKEEVRESAYYLRSRQRRQPRPQETEEMKTRRTTRLQQQHSEQPPLQPSPVMTRRGLRDSHSSEEDEASSQTDLSQTISKKTVRSIQEAPAVSEDLVIRLRRPPLRYPRYEATSVQQKVNFSEEGETEEDDQDSSHSSVTTVKARSRDSDESGDKTTRSSSQYIESFWQSSQSQNFTAHDKQPSVLSSGYQKTPQEWAPQTARIRTRMQTSSPGKSSIYGSFSDDDSILKSELGNQSPSTSSRQVTGQPQNASFVKRNRWWLLPLIAALASGSFWFFSTPEVETTAVQEFQNQMNQLKNKYQGQDEKLWKRSQTFLEKHLNSSHPRSQPAILLLTAARDAEEALRCLSEQIADAYSSFRSVRAIRIDGTDKATQDSDTVKLEVDQELSNGFKNGQNAAVVHRFESFPAGSTLIFYKYCDHENAAFKDVALVLTVLLEEETLGTSLGLKEVEEKVRDFLKVKFTNSNTPNSYNHMDPDKLNGLWSRISHLVLPVQPENALKRGICL*