ENST00000538502.5 SORT1

Information
Transcript ID
ENST00000538502.5
Genome
hg38
Position
chr1:109,309,568-109,393,357
Strand
-
CDS length
2,085
Amino acid length
695
Gene symbol
SORT1
Gene type
protein-coding
Gene description
sortilin 1
Gene Entrez Gene ID
6272
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
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
20 109,309,568 109,314,057
19 109,314,261 109,314,384
18 109,314,672 109,314,778
17 109,316,850 109,316,958
16 109,317,853 109,317,969
15 109,322,932 109,323,121
14 109,324,899 109,325,089
13 109,326,992 109,327,160
12 109,327,499 109,327,601
11 109,336,240 109,336,346
10 109,340,724 109,340,879
9 109,342,014 109,342,158
8 109,345,751 109,345,878
7 109,347,483 109,347,532
6 109,350,929 109,351,002
5 109,354,367 109,354,531
4 109,355,367 109,355,469
3 109,367,408 109,367,481
2 109,369,530 109,369,589
1 109,393,027 109,393,357
CDS
Exon number Type Start Stop
20 CDS 109,314,043 109,314,057
19 CDS 109,314,261 109,314,384
18 CDS 109,314,672 109,314,778
17 CDS 109,316,850 109,316,958
16 CDS 109,317,853 109,317,969
15 CDS 109,322,932 109,323,121
14 CDS 109,324,899 109,325,089
13 CDS 109,326,992 109,327,160
12 CDS 109,327,499 109,327,601
11 CDS 109,336,240 109,336,346
10 CDS 109,340,724 109,340,879
9 CDS 109,342,014 109,342,158
8 CDS 109,345,751 109,345,878
7 CDS 109,347,483 109,347,532
6 CDS 109,350,929 109,351,002
5 CDS 109,354,367 109,354,531
4 CDS 109,355,367 109,355,469
3 CDS 109,367,408 109,367,439
Other genome
Genome Chromosome Start End Links
hg19 chr1 109,852,190 109,935,979 Link
CDS sequence
ATGACTTTTGGACAGTCCAAGCTATATCGAAGTGAGGATTATGGGAAGAACTTTAAGGATATTACAGATCTCATCAATAACACCTTTATTCGGACTGAATTTGGCATGGCTATTGGTCCTGAGAACTCTGGAAAGGTGGTGTTAACAGCAGAGGTGTCTGGAGGAAGTCGTGGAGGAAGAATCTTTAGATCATCAGATTTTGCGAAGAATTTTGTGCAAACAGATCTCCCTTTTCATCCTCTCACTCAGATGATGTATAGCCCTCAGAATTCTGATTATCTTTTAGCTCTCAGCACTGAAAATGGCCTGTGGGTGTCCAAGAATTTTGGGGGAAAATGGGAAGAAATCCACAAAGCAGTATGTTTGGCCAAATGGGGATCAGACAACACCATCTTCTTTACAACCTATGCAAATGGCTCCTGCACTGACCTTGGGGCTCTGGAATTATGGAGAACTTCAGACTTGGGAAAAAGCTTCAAAACTATTGGTGTGAAAATCTACTCATTTGGTCTTGGGGGACGTTTCCTTTTTGCCTCTGTGATGGCTGATAAGGATACAACAAGAAGGATCCACGTTTCAACAGATCAAGGGGACACATGGAGCATGGCCCAGCTCCCCTCCGTGGGACAGGAACAGTTCTATTCTATTCTGGCAGCAAATGATGACATGGTATTCATGCATGTAGATGAACCTGGAGACACTGGGTTTGGCACAATCTTTACCTCAGATGATCGAGGCATTGTCTATTCCAAGTCTTTGGACCGACATCTCTACACTACCACAGGCGGAGAGACGGACTTTACCAACGTGACCTCCCTCCGCGGCGTCTACATAACAAGCGTGCTCTCCGAAGATAATTCTATCCAGACCATGATCACTTTTGACCAAGGAGGAAGGTGGACGCACCTGAGGAAGCCTGAAAACAGTGAATGTGATGCTACAGCAAAAAACAAGAATGAGTGCAGCCTTCATATTCATGCTTCCTACAGCATCTCCCAGAAACTGAATGTTCCAATGGCCCCACTCTCAGAGCCGAATGCCGTAGGCATTGTCATTGCTCATGGTAGCGTGGGGGATGCCATCTCAGTGATGGTTCCAGATGTGTACATCTCAGATGATGGGGGTTACTCCTGGACAAAGATGCTGGAAGGACCCCACTATTACACCATCCTGGATTCTGGAGGCATCATTGTGGCCATTGAGCACAGCAGCCGTCCTATCAATGTGATTAAGTTCTCCACAGACGAAGGTCAATGCTGGCAAACCTACACGTTCACCAGGGACCCCATCTATTTCACTGGCCTAGCTTCAGAACCTGGAGCTAGGTCCATGAATATCAGCATTTGGGGCTTCACAGAATCTTTCCTGACCAGCCAGTGGGTCTCCTACACCATTGATTTTAAAGATATCCTTGAAAGGAACTGTGAAGAGAAGGACTATACCATATGGCTGGCACACTCCACAGACCCTGAAGATTATGAAGATGGCTGCATTTTGGGCTACAAAGAACAGTTTCTGCGGCTACGCAAGTCATCCGTGTGTCAGAATGGTCGAGACTATGTTGTGACCAAGCAGCCCTCCATCTGCCTCTGTTCCCTGGAGGACTTTCTCTGTGATTTTGGCTACTACCGTCCAGAAAATGACTCCAAGTGTGTGGAACAGCCAGAACTGAAGGGCCACGACCTGGAGTTTTGTCTGTACGGAAGAGAAGAACACCTAACAACAAATGGGTACCGGAAAATTCCAGGGGACAAATGCCAGGGTGGGGTAAATCCAGTTCGAGAAGTAAAAGACTTGAAAAAGAAATGCACAAGCAACTTTTTGAGTCCGGAAAAACAGAATTCCAAGTCAAATTCTGTTCCAATTATCCTGGCCATCGTGGGATTGATGCTGGTCACAGTCGTAGCAGGAGTGCTCATTGTGAAGAAATATGTCTGTGGGGGAAGGTTCCTGGTGCATCGATACTCTGTGCTGCAGCAGCATGCAGAGGCCAATGGTGTGGATGGTGTGGATGCTTTGGACACAGCCTCCCACACTAATAAAAGTGGTTATCATGATGACTCAGATGAGGACCTCTTGGAATAG
Amino sequence
MTFGQSKLYRSEDYGKNFKDITDLINNTFIRTEFGMAIGPENSGKVVLTAEVSGGSRGGRIFRSSDFAKNFVQTDLPFHPLTQMMYSPQNSDYLLALSTENGLWVSKNFGGKWEEIHKAVCLAKWGSDNTIFFTTYANGSCTDLGALELWRTSDLGKSFKTIGVKIYSFGLGGRFLFASVMADKDTTRRIHVSTDQGDTWSMAQLPSVGQEQFYSILAANDDMVFMHVDEPGDTGFGTIFTSDDRGIVYSKSLDRHLYTTTGGETDFTNVTSLRGVYITSVLSEDNSIQTMITFDQGGRWTHLRKPENSECDATAKNKNECSLHIHASYSISQKLNVPMAPLSEPNAVGIVIAHGSVGDAISVMVPDVYISDDGGYSWTKMLEGPHYYTILDSGGIIVAIEHSSRPINVIKFSTDEGQCWQTYTFTRDPIYFTGLASEPGARSMNISIWGFTESFLTSQWVSYTIDFKDILERNCEEKDYTIWLAHSTDPEDYEDGCILGYKEQFLRLRKSSVCQNGRDYVVTKQPSICLCSLEDFLCDFGYYRPENDSKCVEQPELKGHDLEFCLYGREEHLTTNGYRKIPGDKCQGGVNPVREVKDLKKKCTSNFLSPEKQNSKSNSVPIILAIVGLMLVTVVAGVLIVKKYVCGGRFLVHRYSVLQQHAEANGVDGVDALDTASHTNKSGYHDDSDEDLLE*