ENST00000260197.12 SORL1

Information
Transcript ID
ENST00000260197.12
Genome
hg38
Position
chr11:121,452,314-121,633,763
Strand
+
CDS length
6,645
Amino acid length
2,215
Gene symbol
SORL1
Gene type
protein-coding
Gene description
sortilin related receptor 1
Gene Entrez Gene ID
6653
Variants

Display target variant


Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
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
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
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 :
Search word :
Filtering :
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
1 121,452,314 121,452,616
2 121,470,007 121,470,123
3 121,478,118 121,478,243
4 121,488,032 121,488,193
5 121,490,043 121,490,110
6 121,496,869 121,497,049
7 121,513,003 121,513,104
8 121,514,152 121,514,321
9 121,520,657 121,520,849
10 121,522,586 121,522,703
11 121,522,916 121,522,989
12 121,532,464 121,532,552
13 121,543,548 121,543,726
14 121,545,243 121,545,429
15 121,549,960 121,550,088
16 121,550,585 121,550,670
17 121,553,937 121,554,109
18 121,555,187 121,555,318
19 121,557,314 121,557,405
20 121,558,591 121,558,837
21 121,559,519 121,559,657
22 121,566,940 121,567,113
23 121,570,157 121,570,270
24 121,574,241 121,574,363
25 121,577,281 121,577,400
26 121,583,458 121,583,583
27 121,586,222 121,586,329
28 121,588,020 121,588,151
29 121,589,259 121,589,390
30 121,590,040 121,590,174
31 121,591,001 121,591,156
32 121,595,623 121,595,772
33 121,604,193 121,604,324
34 121,605,113 121,605,239
35 121,605,402 121,605,571
36 121,606,845 121,606,957
37 121,607,186 121,607,290
38 121,608,104 121,608,176
39 121,611,076 121,611,158
40 121,612,736 121,612,832
41 121,614,871 121,615,055
42 121,618,774 121,618,893
43 121,619,753 121,619,917
44 121,621,064 121,621,238
45 121,622,162 121,622,268
46 121,625,085 121,625,277
47 121,627,555 121,627,767
48 121,629,496 121,633,763
CDS
Exon number Type Start Stop
1 CDS 121,452,332 121,452,616
2 CDS 121,470,007 121,470,123
3 CDS 121,478,118 121,478,243
4 CDS 121,488,032 121,488,193
5 CDS 121,490,043 121,490,110
6 CDS 121,496,869 121,497,049
7 CDS 121,513,003 121,513,104
8 CDS 121,514,152 121,514,321
9 CDS 121,520,657 121,520,849
10 CDS 121,522,586 121,522,703
11 CDS 121,522,916 121,522,989
12 CDS 121,532,464 121,532,552
13 CDS 121,543,548 121,543,726
14 CDS 121,545,243 121,545,429
15 CDS 121,549,960 121,550,088
16 CDS 121,550,585 121,550,670
17 CDS 121,553,937 121,554,109
18 CDS 121,555,187 121,555,318
19 CDS 121,557,314 121,557,405
20 CDS 121,558,591 121,558,837
21 CDS 121,559,519 121,559,657
22 CDS 121,566,940 121,567,113
23 CDS 121,570,157 121,570,270
24 CDS 121,574,241 121,574,363
25 CDS 121,577,281 121,577,400
26 CDS 121,583,458 121,583,583
27 CDS 121,586,222 121,586,329
28 CDS 121,588,020 121,588,151
29 CDS 121,589,259 121,589,390
30 CDS 121,590,040 121,590,174
31 CDS 121,591,001 121,591,156
32 CDS 121,595,623 121,595,772
33 CDS 121,604,193 121,604,324
34 CDS 121,605,113 121,605,239
35 CDS 121,605,402 121,605,571
36 CDS 121,606,845 121,606,957
37 CDS 121,607,186 121,607,290
38 CDS 121,608,104 121,608,176
39 CDS 121,611,076 121,611,158
40 CDS 121,612,736 121,612,832
41 CDS 121,614,871 121,615,055
42 CDS 121,618,774 121,618,893
43 CDS 121,619,753 121,619,917
44 CDS 121,621,064 121,621,238
45 CDS 121,622,162 121,622,268
46 CDS 121,625,085 121,625,277
47 CDS 121,627,555 121,627,767
48 CDS 121,629,496 121,629,563
Other genome
Genome Chromosome Start End Links
hg19 chr11 121,323,023 121,504,472 Link
CDS sequence
ATGGCGACACGGAGCAGCAGGAGGGAGTCGCGACTCCCGTTCCTATTCACCCTGGTCGCACTGCTGCCGCCCGGAGCTCTCTGCGAAGTCTGGACGCAGAGGCTGCACGGCGGCAGCGCGCCCTTGCCCCAGGACCGGGGCTTCCTCGTGGTGCAGGGCGACCCGCGCGAGCTGCGGCTGTGGGCGCGCGGGGATGCCAGGGGGGCGAGCCGCGCGGACGAGAAGCCGCTCCGGAGGAAACGGAGCGCTGCCCTGCAGCCCGAGCCCATCAAGGTGTACGGACAGGTTAGTCTGAATGATTCCCACAATCAGATGGTGGTGCACTGGGCTGGAGAGAAAAGCAACGTGATCGTGGCCTTGGCCCGAGATAGCCTGGCATTGGCGAGGCCCAAGAGCAGTGATGTGTACGTGTCTTACGACTATGGAAAATCATTCAAGAAAATTTCAGACAAGTTAAACTTTGGCTTGGGAAATAGGAGTGAAGCTGTTATCGCCCAGTTCTACCACAGCCCTGCGGACAACAAGCGGTACATCTTTGCAGACGCTTATGCCCAGTACCTCTGGATCACGTTTGACTTCTGCAACACTCTTCAAGGCTTTTCCATCCCATTTCGGGCAGCTGATCTCCTCCTACACAGTAAGGCCTCCAACCTTCTCTTGGGCTTTGACAGGTCCCACCCCAACAAGCAGCTGTGGAAGTCAGATGACTTTGGCCAGACCTGGATCATGATTCAGGAACATGTCAAGTCCTTTTCTTGGGGAATTGATCCCTATGACAAACCAAATACCATCTACATTGAACGACATGAACCCTCTGGCTACTCCACTGTCTTCCGAAGTACAGATTTCTTCCAGTCCCGGGAAAACCAGGAAGTGATCCTTGAGGAAGTGAGAGATTTTCAGCTTCGGGACAAGTACATGTTTGCTACAAAGGTGGTGCATCTCTTGGGCAGTGAACAGCAGTCTTCTGTCCAGCTCTGGGTCTCCTTTGGCCGGAAGCCCATGAGAGCAGCCCAGTTTGTCACAAGACATCCTATTAATGAATATTACATCGCAGATGCCTCCGAGGACCAGGTGTTTGTGTGTGTCAGCCACAGTAACAACCGCACCAATTTATACATCTCAGAGGCAGAGGGGCTGAAGTTCTCCCTGTCCTTGGAGAACGTGCTCTATTACAGCCCAGGAGGGGCCGGCAGTGACACCTTGGTGAGGTATTTTGCAAATGAACCATTTGCTGACTTCCACCGAGTGGAAGGATTGCAAGGAGTCTACATTGCTACTCTGATTAATGGTTCTATGAATGAGGAGAACATGAGATCGGTCATCACCTTTGACAAAGGGGGAACCTGGGAGTTTCTTCAGGCTCCAGCCTTCACGGGATATGGAGAGAAAATCAATTGTGAGCTTTCCCAGGGCTGTTCCCTTCATCTGGCTCAGCGCCTCAGTCAGCTCCTCAACCTCCAGCTCCGGAGAATGCCCATCCTGTCCAAGGAGTCGGCTCCAGGCCTCATCATCGCCACTGGCTCAGTGGGAAAGAACTTGGCTAGCAAGACAAACGTGTACATCTCTAGCAGTGCTGGAGCCAGGTGGCGAGAGGCACTTCCTGGACCTCACTACTACACATGGGGAGACCACGGCGGAATCATCACGGCCATTGCCCAGGGCATGGAAACCAACGAGCTAAAATACAGTACCAATGAAGGGGAGACCTGGAAAACATTCATCTTCTCTGAGAAGCCAGTGTTTGTGTATGGCCTCCTCACAGAACCTGGGGAGAAGAGCACTGTCTTCACCATCTTTGGCTCGAACAAAGAGAATGTCCACAGCTGGCTGATCCTCCAGGTCAATGCCACGGATGCCTTGGGAGTTCCCTGCACAGAGAATGACTACAAGCTGTGGTCACCATCTGATGAGCGGGGGAATGAGTGTTTGCTGGGACACAAGACTGTTTTCAAACGGCGGACCCCCCATGCCACATGCTTCAATGGAGAGGACTTTGACAGGCCGGTGGTCGTGTCCAACTGCTCCTGCACCCGGGAGGACTATGAGTGTGACTTCGGTTTCAAGATGAGTGAAGATTTGTCATTAGAGGTTTGTGTTCCAGATCCGGAATTTTCTGGAAAGTCATACTCCCCTCCTGTGCCTTGCCCTGTGGGTTCTACTTACAGGAGAACGAGAGGCTACCGGAAGATTTCTGGGGACACTTGTAGCGGAGGAGATGTTGAAGCGCGACTGGAAGGAGAGCTGGTCCCCTGTCCCCTGGCAGAAGAGAACGAGTTCATTCTGTATGCTGTGAGGAAATCCATCTACCGCTATGACCTGGCCTCGGGAGCCACCGAGCAGTTGCCTCTCACCGGGCTACGGGCAGCAGTGGCCCTGGACTTTGACTATGAGCACAACTGTTTGTATTGGTCCGACCTGGCCTTGGACGTCATCCAGCGCCTCTGTTTGAATGGAAGCACAGGGCAAGAGGTGATCATCAATTCTGGCCTGGAGACAGTAGAAGCTTTGGCTTTTGAACCCCTCAGCCAGCTGCTTTACTGGGTAGATGCAGGCTTCAAAAAGATTGAGGTAGCTAATCCAGATGGCGACTTCCGACTCACAATCGTCAATTCCTCTGTGCTTGATCGTCCCAGGGCTCTGGTCCTCGTGCCCCAAGAGGGGGTGATGTTCTGGACAGACTGGGGAGACCTGAAGCCTGGGATTTATCGGAGCAATATGGATGGTTCTGCTGCCTATCACCTGGTGTCTGAGGATGTGAAGTGGCCCAATGGCATCTCTGTGGACGACCAGTGGATTTACTGGACGGATGCCTACCTGGAGTGCATAGAGCGGATCACGTTCAGTGGCCAGCAGCGCTCTGTCATTCTGGACAACCTCCCGCACCCCTATGCCATTGCTGTCTTTAAGAATGAAATCTACTGGGATGACTGGTCACAGCTCAGCATATTCCGAGCTTCCAAATACAGTGGGTCCCAGATGGAGATTCTGGCAAACCAGCTCACGGGGCTCATGGACATGAAGATTTTCTACAAGGGGAAGAACACTGGAAGCAATGCCTGTGTGCCCAGGCCATGCAGCCTGCTGTGCCTGCCCAAGGCCAACAACAGTAGAAGCTGCAGGTGTCCAGAGGATGTGTCCAGCAGTGTGCTTCCATCAGGGGACCTGATGTGTGACTGCCCTCAGGGCTATCAGCTCAAGAACAATACCTGTGTCAAACAAGAGAACACCTGTCTTCGCAACCAGTATCGCTGCAGCAACGGGAACTGTATCAACAGCATTTGGTGGTGTGACTTTGACAACGACTGTGGAGACATGAGCGATGAGAGAAACTGCCCTACCACCATCTGTGACCTGGACACCCAGTTTCGTTGCCAGGAGTCTGGGACTTGTATCCCACTGTCCTATAAATGTGACCTTGAGGATGACTGTGGAGACAACAGTGATGAAAGTCATTGTGAAATGCACCAGTGCCGGAGTGACGAGTACAACTGCAGTTCCGGCATGTGCATCCGCTCCTCCTGGGTATGTGACGGGGACAACGACTGCAGGGACTGGTCTGATGAAGCCAACTGTACCGCCATCTATCACACCTGTGAGGCCTCCAACTTCCAGTGCCGAAACGGGCACTGCATCCCCCAGCGGTGGGCGTGTGACGGGGATACGGACTGCCAGGATGGTTCCGATGAGGATCCAGTCAACTGTGAGAAGAAGTGCAATGGATTCCGCTGCCCAAACGGCACTTGCATCCCATCCAGCAAACATTGTGATGGTCTGCGTGATTGCTCTGATGGCTCCGATGAACAGCACTGCGAGCCCCTCTGTACGCACTTCATGGACTTTGTGTGTAAGAACCGCCAGCAGTGCCTGTTCCACTCCATGGTCTGTGACGGAATCATCCAGTGCCGCGACGGGTCCGATGAGGATGCGGCGTTTGCAGGATGCTCCCAAGATCCTGAGTTCCACAAGGTATGTGATGAGTTCGGTTTCCAGTGTCAGAATGGAGTGTGCATCAGTTTGATTTGGAAGTGCGACGGGATGGATGATTGCGGCGATTATTCTGATGAAGCCAACTGCGAAAACCCCACAGAAGCCCCAAACTGCTCCCGCTACTTCCAGTTTCGGTGTGAGAATGGCCACTGCATCCCCAACAGATGGAAATGTGACAGGGAGAACGACTGTGGGGACTGGTCTGATGAGAAGGATTGTGGAGATTCACATATTCTTCCCTTCTCGACTCCTGGGCCCTCCACGTGTCTGCCCAATTACTACCGCTGCAGCAGTGGGACCTGCGTGATGGACACCTGGGTGTGCGACGGGTACCGAGATTGTGCAGATGGCTCTGACGAGGAAGCCTGCCCCTTGCTTGCAAACGTCACTGCTGCCTCCACTCCCACCCAACTTGGGCGATGTGACCGATTTGAGTTCGAATGCCACCAACCGAAGACGTGTATTCCCAACTGGAAGCGCTGTGACGGCCACCAAGATTGCCAGGATGGCCGGGACGAGGCCAATTGCCCCACACACAGCACCTTGACTTGCATGAGCAGGGAGTTCCAGTGCGAGGACGGGGAGGCCTGCATTGTGCTCTCGGAGCGCTGCGACGGCTTCCTGGACTGCTCGGACGAGAGCGATGAAAAGGCCTGCAGTGATGAGTTGACTGTGTACAAAGTACAGAATCTTCAGTGGACAGCTGACTTCTCTGGGGATGTGACTTTGACCTGGATGAGGCCCAAAAAAATGCCCTCTGCTTCTTGTGTATATAATGTCTACTACAGGGTGGTTGGAGAGAGCATATGGAAGACTCTGGAGACCCACAGCAATAAGACAAACACTGTATTAAAAGTCTTGAAACCAGATACCACGTATCAGGTTAAAGTACAGGTTCAGTGTCTCAGCAAGGCACACAACACCAATGACTTTGTGACCCTGAGGACCCCAGAGGGATTGCCAGATGCCCCTCGAAATCTCCAGCTGTCACTCCCCAGGGAAGCAGAAGGTGTGATTGTAGGCCACTGGGCTCCTCCCATCCACACCCATGGCCTCATCCGTGAGTACATTGTAGAATACAGCAGGAGTGGTTCCAAGATGTGGGCCTCCCAGAGGGCTGCTAGTAACTTTACAGAAATCAAGAACTTATTGGTCAACACTCTATACACCGTCAGAGTGGCTGCGGTGACTAGTCGTGGAATAGGAAACTGGAGCGATTCTAAATCCATTACCACCATAAAAGGAAAAGTGATCCCACCACCAGATATCCACATTGACAGCTATGGTGAAAATTATCTAAGCTTCACCCTGACCATGGAGAGTGATATCAAGGTGAATGGCTATGTGGTGAACCTTTTCTGGGCATTTGACACCCACAAGCAAGAGAGGAGAACTTTGAACTTCCGAGGAAGCATATTGTCACACAAAGTTGGCAATCTGACAGCTCATACATCCTATGAGATTTCTGCCTGGGCCAAGACTGACTTGGGGGATAGCCCTCTGGCATTTGAGCATGTTATGACCAGAGGGGTTCGCCCACCTGCACCTAGCCTCAAGGCCAAAGCCATCAACCAGACTGCAGTGGAATGTACCTGGACCGGCCCCCGGAATGTGGTTTATGGTATTTTCTATGCCACGTCCTTTCTTGACCTCTATCGCAACCCGAAGAGCTTGACTACTTCACTCCACAACAAGACGGTCATTGTCAGTAAGGATGAGCAGTATTTGTTTCTGGTCCGTGTAGTGGTACCCTACCAGGGGCCATCCTCTGACTACGTTGTAGTGAAGATGATCCCGGACAGCAGGCTTCCACCCCGTCACCTGCATGTGGTTCATACGGGCAAAACCTCCGTGGTCATCAAGTGGGAATCACCGTATGACTCTCCTGACCAGGACTTGTTGTATGCAGTTGCAGTCAAAGATCTCATAAGAAAGACTGACAGGAGCTACAAAGTAAAATCCCGTAACAGCACTGTGGAATACACCCTTAACAAGTTGGAGCCTGGCGGGAAATACCACATCATTGTCCAACTGGGGAACATGAGCAAAGATTCCAGCATAAAAATTACCACAGTTTCATTATCAGCACCTGATGCCTTAAAAATCATAACAGAAAATGATCATGTTCTTCTGTTTTGGAAAAGCCTGGCTTTAAAGGAAAAGCATTTTAATGAAAGCAGGGGCTATGAGATACACATGTTTGATAGTGCCATGAATATCACAGCTTACCTTGGGAATACTACTGACAATTTCTTTAAAATTTCCAACCTGAAGATGGGTCATAATTACACGTTCACCGTCCAAGCAAGATGCCTTTTTGGCAACCAGATCTGTGGGGAGCCTGCCATCCTGCTGTACGATGAGCTGGGGTCTGGTGCAGATGCATCTGCAACGCAGGCTGCCAGATCTACGGATGTTGCTGCTGTGGTGGTGCCCATCTTATTCCTGATACTGCTGAGCCTGGGGGTGGGGTTTGCCATCCTGTACACGAAGCACCGGAGGCTGCAGAGCAGCTTCACCGCCTTCGCCAACAGCCACTACAGCTCCAGGCTGGGGTCCGCAATCTTCTCCTCTGGGGATGACCTGGGGGAAGATGATGAAGATGCCCCTATGATAACTGGATTTTCAGATGACGTCCCCATGGTGATAGCCTGA
Amino sequence
MATRSSRRESRLPFLFTLVALLPPGALCEVWTQRLHGGSAPLPQDRGFLVVQGDPRELRLWARGDARGASRADEKPLRRKRSAALQPEPIKVYGQVSLNDSHNQMVVHWAGEKSNVIVALARDSLALARPKSSDVYVSYDYGKSFKKISDKLNFGLGNRSEAVIAQFYHSPADNKRYIFADAYAQYLWITFDFCNTLQGFSIPFRAADLLLHSKASNLLLGFDRSHPNKQLWKSDDFGQTWIMIQEHVKSFSWGIDPYDKPNTIYIERHEPSGYSTVFRSTDFFQSRENQEVILEEVRDFQLRDKYMFATKVVHLLGSEQQSSVQLWVSFGRKPMRAAQFVTRHPINEYYIADASEDQVFVCVSHSNNRTNLYISEAEGLKFSLSLENVLYYSPGGAGSDTLVRYFANEPFADFHRVEGLQGVYIATLINGSMNEENMRSVITFDKGGTWEFLQAPAFTGYGEKINCELSQGCSLHLAQRLSQLLNLQLRRMPILSKESAPGLIIATGSVGKNLASKTNVYISSSAGARWREALPGPHYYTWGDHGGIITAIAQGMETNELKYSTNEGETWKTFIFSEKPVFVYGLLTEPGEKSTVFTIFGSNKENVHSWLILQVNATDALGVPCTENDYKLWSPSDERGNECLLGHKTVFKRRTPHATCFNGEDFDRPVVVSNCSCTREDYECDFGFKMSEDLSLEVCVPDPEFSGKSYSPPVPCPVGSTYRRTRGYRKISGDTCSGGDVEARLEGELVPCPLAEENEFILYAVRKSIYRYDLASGATEQLPLTGLRAAVALDFDYEHNCLYWSDLALDVIQRLCLNGSTGQEVIINSGLETVEALAFEPLSQLLYWVDAGFKKIEVANPDGDFRLTIVNSSVLDRPRALVLVPQEGVMFWTDWGDLKPGIYRSNMDGSAAYHLVSEDVKWPNGISVDDQWIYWTDAYLECIERITFSGQQRSVILDNLPHPYAIAVFKNEIYWDDWSQLSIFRASKYSGSQMEILANQLTGLMDMKIFYKGKNTGSNACVPRPCSLLCLPKANNSRSCRCPEDVSSSVLPSGDLMCDCPQGYQLKNNTCVKQENTCLRNQYRCSNGNCINSIWWCDFDNDCGDMSDERNCPTTICDLDTQFRCQESGTCIPLSYKCDLEDDCGDNSDESHCEMHQCRSDEYNCSSGMCIRSSWVCDGDNDCRDWSDEANCTAIYHTCEASNFQCRNGHCIPQRWACDGDTDCQDGSDEDPVNCEKKCNGFRCPNGTCIPSSKHCDGLRDCSDGSDEQHCEPLCTHFMDFVCKNRQQCLFHSMVCDGIIQCRDGSDEDAAFAGCSQDPEFHKVCDEFGFQCQNGVCISLIWKCDGMDDCGDYSDEANCENPTEAPNCSRYFQFRCENGHCIPNRWKCDRENDCGDWSDEKDCGDSHILPFSTPGPSTCLPNYYRCSSGTCVMDTWVCDGYRDCADGSDEEACPLLANVTAASTPTQLGRCDRFEFECHQPKTCIPNWKRCDGHQDCQDGRDEANCPTHSTLTCMSREFQCEDGEACIVLSERCDGFLDCSDESDEKACSDELTVYKVQNLQWTADFSGDVTLTWMRPKKMPSASCVYNVYYRVVGESIWKTLETHSNKTNTVLKVLKPDTTYQVKVQVQCLSKAHNTNDFVTLRTPEGLPDAPRNLQLSLPREAEGVIVGHWAPPIHTHGLIREYIVEYSRSGSKMWASQRAASNFTEIKNLLVNTLYTVRVAAVTSRGIGNWSDSKSITTIKGKVIPPPDIHIDSYGENYLSFTLTMESDIKVNGYVVNLFWAFDTHKQERRTLNFRGSILSHKVGNLTAHTSYEISAWAKTDLGDSPLAFEHVMTRGVRPPAPSLKAKAINQTAVECTWTGPRNVVYGIFYATSFLDLYRNPKSLTTSLHNKTVIVSKDEQYLFLVRVVVPYQGPSSDYVVVKMIPDSRLPPRHLHVVHTGKTSVVIKWESPYDSPDQDLLYAVAVKDLIRKTDRSYKVKSRNSTVEYTLNKLEPGGKYHIIVQLGNMSKDSSIKITTVSLSAPDALKIITENDHVLLFWKSLALKEKHFNESRGYEIHMFDSAMNITAYLGNTTDNFFKISNLKMGHNYTFTVQARCLFGNQICGEPAILLYDELGSGADASATQAARSTDVAAVVVPILFLILLSLGVGFAILYTKHRRLQSSFTAFANSHYSSRLGSAIFSSGDDLGEDDEDAPMITGFSDDVPMVIA*