ENST00000260197.12 SORL1

Information
Transcript ID
ENST00000260197.12
Genome
hg19
Position
chr11:121,323,023-121,504,472
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
1 121,323,023 121,323,325
2 121,340,716 121,340,832
3 121,348,827 121,348,952
4 121,358,741 121,358,902
5 121,360,752 121,360,819
6 121,367,578 121,367,758
7 121,383,712 121,383,813
8 121,384,861 121,385,030
9 121,391,366 121,391,558
10 121,393,295 121,393,412
11 121,393,625 121,393,698
12 121,403,173 121,403,261
13 121,414,257 121,414,435
14 121,415,952 121,416,138
15 121,420,669 121,420,797
16 121,421,294 121,421,379
17 121,424,646 121,424,818
18 121,425,896 121,426,027
19 121,428,023 121,428,114
20 121,429,300 121,429,546
21 121,430,228 121,430,366
22 121,437,649 121,437,822
23 121,440,866 121,440,979
24 121,444,950 121,445,072
25 121,447,990 121,448,109
26 121,454,167 121,454,292
27 121,456,931 121,457,038
28 121,458,729 121,458,860
29 121,459,968 121,460,099
30 121,460,749 121,460,883
31 121,461,710 121,461,865
32 121,466,332 121,466,481
33 121,474,902 121,475,033
34 121,475,822 121,475,948
35 121,476,111 121,476,280
36 121,477,554 121,477,666
37 121,477,895 121,477,999
38 121,478,813 121,478,885
39 121,481,785 121,481,867
40 121,483,445 121,483,541
41 121,485,580 121,485,764
42 121,489,483 121,489,602
43 121,490,462 121,490,626
44 121,491,773 121,491,947
45 121,492,871 121,492,977
46 121,495,794 121,495,986
47 121,498,264 121,498,476
48 121,500,205 121,504,472
CDS
Exon number Type Start Stop
1 CDS 121,323,041 121,323,325
2 CDS 121,340,716 121,340,832
3 CDS 121,348,827 121,348,952
4 CDS 121,358,741 121,358,902
5 CDS 121,360,752 121,360,819
6 CDS 121,367,578 121,367,758
7 CDS 121,383,712 121,383,813
8 CDS 121,384,861 121,385,030
9 CDS 121,391,366 121,391,558
10 CDS 121,393,295 121,393,412
11 CDS 121,393,625 121,393,698
12 CDS 121,403,173 121,403,261
13 CDS 121,414,257 121,414,435
14 CDS 121,415,952 121,416,138
15 CDS 121,420,669 121,420,797
16 CDS 121,421,294 121,421,379
17 CDS 121,424,646 121,424,818
18 CDS 121,425,896 121,426,027
19 CDS 121,428,023 121,428,114
20 CDS 121,429,300 121,429,546
21 CDS 121,430,228 121,430,366
22 CDS 121,437,649 121,437,822
23 CDS 121,440,866 121,440,979
24 CDS 121,444,950 121,445,072
25 CDS 121,447,990 121,448,109
26 CDS 121,454,167 121,454,292
27 CDS 121,456,931 121,457,038
28 CDS 121,458,729 121,458,860
29 CDS 121,459,968 121,460,099
30 CDS 121,460,749 121,460,883
31 CDS 121,461,710 121,461,865
32 CDS 121,466,332 121,466,481
33 CDS 121,474,902 121,475,033
34 CDS 121,475,822 121,475,948
35 CDS 121,476,111 121,476,280
36 CDS 121,477,554 121,477,666
37 CDS 121,477,895 121,477,999
38 CDS 121,478,813 121,478,885
39 CDS 121,481,785 121,481,867
40 CDS 121,483,445 121,483,541
41 CDS 121,485,580 121,485,764
42 CDS 121,489,483 121,489,602
43 CDS 121,490,462 121,490,626
44 CDS 121,491,773 121,491,947
45 CDS 121,492,871 121,492,977
46 CDS 121,495,794 121,495,986
47 CDS 121,498,264 121,498,476
48 CDS 121,500,205 121,500,272
Other genome
Genome Chromosome Start End Links
hg38 chr11 121,452,314 121,633,763 Link
CDS sequence
ATGGCGACACGGAGCAGCAGGAGGGAGTCGCGACTCCCGTTCCTATTCACCCTGGTCGCACTGCTGCCGCCCGGAGCTCTCTGCGAAGTCTGGACGCAGAGGCTGCACGGCGGCAGCGCGCCCTTGCCCCAGGACCGGGGCTTCCTCGTGGTGCAGGGCGACCCGCGCGAGCTGCGGCTGTGGGCGCGCGGGGATGCCAGGGGGGCGAGCCGCGCGGACGAGAAGCCGCTCCGGAGGAAACGGAGCGCTGCCCTGCAGCCCGAGCCCATCAAGGTGTACGGACAGGTTAGTCTGAATGATTCCCACAATCAGATGGTGGTGCACTGGGCTGGAGAGAAAAGCAACGTGATCGTGGCCTTGGCCCGAGATAGCCTGGCATTGGCGAGGCCCAAGAGCAGTGATGTGTACGTGTCTTACGACTATGGAAAATCATTCAAGAAAATTTCAGACAAGTTAAACTTTGGCTTGGGAAATAGGAGTGAAGCTGTTATCGCCCAGTTCTACCACAGCCCTGCGGACAACAAGCGGTACATCTTTGCAGACGCTTATGCCCAGTACCTCTGGATCACGTTTGACTTCTGCAACACTCTTCAAGGCTTTTCCATCCCATTTCGGGCAGCTGATCTCCTCCTACACAGTAAGGCCTCCAACCTTCTCTTGGGCTTTGACAGGTCCCACCCCAACAAGCAGCTGTGGAAGTCAGATGACTTTGGCCAGACCTGGATCATGATTCAGGAACATGTCAAGTCCTTTTCTTGGGGAATTGATCCCTATGACAAACCAAATACCATCTACATTGAACGACATGAACCCTCTGGCTACTCCACTGTCTTCCGAAGTACAGATTTCTTCCAGTCCCGGGAAAACCAGGAAGTGATCCTTGAGGAAGTGAGAGATTTTCAGCTTCGGGACAAGTACATGTTTGCTACAAAGGTGGTGCATCTCTTGGGCAGTGAACAGCAGTCTTCTGTCCAGCTCTGGGTCTCCTTTGGCCGGAAGCCCATGAGAGCAGCCCAGTTTGTCACAAGACATCCTATTAATGAATATTACATCGCAGATGCCTCCGAGGACCAGGTGTTTGTGTGTGTCAGCCACAGTAACAACCGCACCAATTTATACATCTCAGAGGCAGAGGGGCTGAAGTTCTCCCTGTCCTTGGAGAACGTGCTCTATTACAGCCCAGGAGGGGCCGGCAGTGACACCTTGGTGAGGTATTTTGCAAATGAACCATTTGCTGACTTCCACCGAGTGGAAGGATTGCAAGGAGTCTACATTGCTACTCTGATTAATGGTTCTATGAATGAGGAGAACATGAGATCGGTCATCACCTTTGACAAAGGGGGAACCTGGGAGTTTCTTCAGGCTCCAGCCTTCACGGGATATGGAGAGAAAATCAATTGTGAGCTTTCCCAGGGCTGTTCCCTTCATCTGGCTCAGCGCCTCAGTCAGCTCCTCAACCTCCAGCTCCGGAGAATGCCCATCCTGTCCAAGGAGTCGGCTCCAGGCCTCATCATCGCCACTGGCTCAGTGGGAAAGAACTTGGCTAGCAAGACAAACGTGTACATCTCTAGCAGTGCTGGAGCCAGGTGGCGAGAGGCACTTCCTGGACCTCACTACTACACATGGGGAGACCACGGCGGAATCATCACGGCTATTGCCCAGGGCATGGAAACCAACGAGCTAAAATACAGTACCAATGAAGGGGAGACCTGGAAAACATTCATCTTCTCTGAGAAGCCAGTGTTTGTGTATGGCCTCCTCACAGAACCTGGGGAGAAGAGCACTGTCTTCACCATCTTTGGCTCGAACAAAGAGAATGTCCACAGCTGGCTGATCCTCCAGGTCAATGCCACGGATGCCTTGGGAGTTCCCTGCACAGAGAATGACTACAAGCTGTGGTCACCATCTGATGAGCGGGGGAATGAGTGTTTGCTGGGACACAAGACTGTTTTCAAACGGCGGACCCCCCATGCCACATGCTTCAATGGAGAGGACTTTGACAGGCCGGTGGTCGTGTCCAACTGCTCCTGCACCCGGGAGGACTATGAGTGTGACTTCGGTTTCAAGATGAGTGAAGATTTGTCATTAGAGGTTTGTGTTCCAGATCCGGAATTTTCTGGAAAGTCATACTCCCCTCCTGTGCCTTGCCCTGTGGGTTCTACTTACAGGAGAACGAGAGGCTACCGGAAGATTTCTGGGGACACTTGTAGCGGAGGAGATGTTGAAGCGCGACTGGAAGGAGAGCTGGTCCCCTGTCCCCTGGCAGAAGAGAACGAGTTCATTCTGTATGCTGTGAGGAAATCCATCTACCGCTATGACCTGGCCTCGGGAGCCACCGAGCAGTTGCCTCTCACCGGGCTACGGGCAGCAGTGGCCCTGGACTTTGACTATGAGCACAACTGTTTGTATTGGTCCGACCTGGCCTTGGACGTCATCCAGCGCCTCTGTTTGAATGGAAGCACAGGGCAAGAGGTGATCATCAATTCTGGCCTGGAGACAGTAGAAGCTTTGGCTTTTGAACCCCTCAGCCAGCTGCTTTACTGGGTAGATGCAGGCTTCAAAAAGATTGAGGTAGCTAATCCAGATGGCGACTTCCGACTCACAATCGTCAATTCCTCTGTGCTTGATCGTCCCAGGGCTCTGGTCCTCGTGCCCCAAGAGGGGGTGATGTTCTGGACAGACTGGGGAGACCTGAAGCCTGGGATTTATCGGAGCAATATGGATGGTTCTGCTGCCTATCACCTGGTGTCTGAGGATGTGAAGTGGCCCAATGGCATCTCTGTGGACGACCAGTGGATTTACTGGACGGATGCCTACCTGGAGTGCATAGAGCGGATCACGTTCAGTGGCCAGCAGCGCTCTGTCATTCTGGACAACCTCCCGCACCCCTATGCCATTGCTGTCTTTAAGAATGAAATCTACTGGGATGACTGGTCACAGCTCAGCATATTCCGAGCTTCCAAATACAGTGGGTCCCAGATGGAGATTCTGGCAAACCAGCTCACGGGGCTCATGGACATGAAGATTTTCTACAAGGGGAAGAACACTGGAAGCAATGCCTGTGTGCCCAGGCCATGCAGCCTGCTGTGCCTGCCCAAGGCCAACAACAGTAGAAGCTGCAGGTGTCCAGAGGATGTGTCCAGCAGTGTGCTTCCATCAGGGGACCTGATGTGTGACTGCCCTCAGGGCTATCAGCTCAAGAACAATACCTGTGTCAAACAAGAGAACACCTGTCTTCGCAACCAGTATCGCTGCAGCAACGGGAACTGTATCAACAGCATTTGGTGGTGTGACTTTGACAACGACTGTGGAGACATGAGCGATGAGAGAAACTGCCCTACCACCATCTGTGACCTGGACACCCAGTTTCGTTGCCAGGAGTCTGGGACTTGTATCCCACTGTCCTATAAATGTGACCTTGAGGATGACTGTGGAGACAACAGTGATGAAAGTCATTGTGAAATGCACCAGTGCCGGAGTGACGAGTACAACTGCAGTTCCGGCATGTGCATCCGCTCCTCCTGGGTATGTGACGGGGACAACGACTGCAGGGACTGGTCTGATGAAGCCAACTGTACCGCCATCTATCACACCTGTGAGGCCTCCAACTTCCAGTGCCGAAACGGGCACTGCATCCCCCAGCGGTGGGCGTGTGACGGGGATACGGACTGCCAGGATGGTTCCGATGAGGATCCAGTCAACTGTGAGAAGAAGTGCAATGGATTCCGCTGCCCAAACGGCACTTGCATCCCATCCAGCAAACATTGTGATGGTCTGCGTGATTGCTCTGATGGCTCCGATGAACAGCACTGCGAGCCCCTCTGTACGCACTTCATGGACTTTGTGTGTAAGAACCGCCAGCAGTGCCTGTTCCACTCCATGGTCTGTGACGGAATCATCCAGTGCCGCGACGGGTCCGATGAGGATGCGGCGTTTGCAGGATGCTCCCAAGATCCTGAGTTCCACAAGGTATGTGATGAGTTCGGTTTCCAGTGTCAGAATGGAGTGTGCATCAGTTTGATTTGGAAGTGCGACGGGATGGATGATTGCGGCGATTATTCTGATGAAGCCAACTGCGAAAACCCCACAGAAGCCCCAAACTGCTCCCGCTACTTCCAGTTTCGGTGTGAGAATGGCCACTGCATCCCCAACAGATGGAAATGTGACAGGGAGAACGACTGTGGGGACTGGTCTGATGAGAAGGATTGTGGAGATTCACATATTCTTCCCTTCTCGACTCCTGGGCCCTCCACGTGTCTGCCCAATTACTACCGCTGCAGCAGTGGGACCTGCGTGATGGACACCTGGGTGTGCGACGGGTACCGAGATTGTGCAGATGGCTCTGACGAGGAAGCCTGCCCCTTGCTTGCAAACGTCACTGCTGCCTCCACTCCCACCCAACTTGGGCGATGTGACCGATTTGAGTTCGAATGCCACCAACCGAAGACGTGTATTCCCAACTGGAAGCGCTGTGACGGCCACCAAGATTGCCAGGATGGCCGGGACGAGGCCAATTGCCCCACACACAGCACCTTGACTTGCATGAGCAGGGAGTTCCAGTGCGAGGACGGGGAGGCCTGCATTGTGCTCTCGGAGCGCTGCGACGGCTTCCTGGACTGCTCGGACGAGAGCGATGAAAAGGCCTGCAGTGATGAGTTGACTGTGTACAAAGTACAGAATCTTCAGTGGACAGCTGACTTCTCTGGGGATGTGACTTTGACCTGGATGAGGCCCAAAAAAATGCCCTCTGCTTCTTGTGTATATAATGTCTACTACAGGGTGGTTGGAGAGAGCATATGGAAGACTCTGGAGACCCACAGCAATAAGACAAACACTGTATTAAAAGTCTTGAAACCAGATACCACGTATCAGGTTAAAGTACAGGTTCAGTGTCTCAGCAAGGCACACAACACCAATGACTTTGTGACCCTGAGGACCCCAGAGGGATTGCCAGATGCCCCTCGAAATCTCCAGCTGTCACTCCCCAGGGAAGCAGAAGGTGTGATTGTAGGCCACTGGGCTCCTCCCATCCACACCCATGGCCTCATCCGTGAGTACATTGTAGAATACAGCAGGAGTGGTTCCAAGATGTGGGCCTCCCAGAGGGCTGCTAGTAACTTTACAGAAATCAAGAACTTATTGGTCAACACTCTATACACCGTCAGAGTGGCTGCGGTGACTAGTCGTGGAATAGGAAACTGGAGCGATTCTAAATCCATTACCACCATAAAAGGAAAAGTGATCCCACCACCAGATATCCACATTGACAGCTATGGTGAAAATTATCTAAGCTTCACCCTGACCATGGAGAGTGATATCAAGGTGAATGGCTATGTGGTGAACCTTTTCTGGGCATTTGACACCCACAAGCAAGAGAGGAGAACTTTGAACTTCCGAGGAAGCATATTGTCACACAAAGTTGGCAATCTGACAGCTCATACATCCTATGAGATTTCTGCCTGGGCCAAGACTGACTTGGGGGATAGCCCTCTGGCATTTGAGCATGTTATGACCAGAGGGGTTCGCCCACCTGCACCTAGCCTCAAGGCCAAAGCCATCAACCAGACTGCAGTGGAATGTACCTGGACCGGCCCCCGGAATGTGGTTTATGGTATTTTCTATGCCACGTCCTTTCTTGACCTCTATCGCAACCCGAAGAGCTTGACTACTTCACTCCACAACAAGACGGTCATTGTCAGTAAGGATGAGCAGTATTTGTTTCTGGTCCGTGTAGTGGTACCCTACCAGGGGCCATCCTCTGACTACGTTGTAGTGAAGATGATCCCGGACAGCAGGCTTCCACCCCGTCACCTGCATGTGGTTCATACGGGCAAAACCTCCGTGGTCATCAAGTGGGAATCACCGTATGACTCTCCTGACCAGGACTTGTTGTATGCAGTTGCAGTCAAAGATCTCATAAGAAAGACTGACAGGAGCTACAAAGTAAAATCCCGTAACAGCACTGTGGAATACACCCTTAACAAGTTGGAGCCTGGCGGGAAATACCACATCATTGTCCAACTGGGGAACATGAGCAAAGATTCCAGCATAAAAATTACCACAGTTTCATTATCAGCACCTGATGCCTTAAAAATCATAACAGAAAATGATCATGTTCTTCTGTTTTGGAAAAGCCTGGCTTTAAAGGAAAAGCATTTTAATGAAAGCAGGGGCTATGAGATACACATGTTTGATAGTGCCATGAATATCACAGCTTACCTTGGGAATACTACTGACAATTTCTTTAAAATTTCCAACCTGAAGATGGGTCATAATTACACGTTCACCGTCCAAGCAAGATGCCTTTTTGGCAACCAGATCTGTGGGGAGCCTGCCATCCTGCTGTACGATGAGCTGGGGTCTGGTGCAGATGCATCTGCAACGCAGGCTGCCAGATCTACGGATGTTGCTGCTGTGGTGGTGCCCATCTTATTCCTGATACTGCTGAGCCTGGGGGTGGGGTTTGCCATCCTGTACACGAAGCACCGGAGGCTGCAGAGCAGCTTCACCGCCTTCGCCAACAGCCACTACAGCTCCAGGCTGGGGTCCGCAATCTTCTCCTCTGGGGATGACCTGGGGGAAGATGATGAAGATGCCCCTATGATAACTGGATTTTCAGATGACGTCCCCATGGTGATAGCCTGA
Amino sequence
MATRSSRRESRLPFLFTLVALLPPGALCEVWTQRLHGGSAPLPQDRGFLVVQGDPRELRLWARGDARGASRADEKPLRRKRSAALQPEPIKVYGQVSLNDSHNQMVVHWAGEKSNVIVALARDSLALARPKSSDVYVSYDYGKSFKKISDKLNFGLGNRSEAVIAQFYHSPADNKRYIFADAYAQYLWITFDFCNTLQGFSIPFRAADLLLHSKASNLLLGFDRSHPNKQLWKSDDFGQTWIMIQEHVKSFSWGIDPYDKPNTIYIERHEPSGYSTVFRSTDFFQSRENQEVILEEVRDFQLRDKYMFATKVVHLLGSEQQSSVQLWVSFGRKPMRAAQFVTRHPINEYYIADASEDQVFVCVSHSNNRTNLYISEAEGLKFSLSLENVLYYSPGGAGSDTLVRYFANEPFADFHRVEGLQGVYIATLINGSMNEENMRSVITFDKGGTWEFLQAPAFTGYGEKINCELSQGCSLHLAQRLSQLLNLQLRRMPILSKESAPGLIIATGSVGKNLASKTNVYISSSAGARWREALPGPHYYTWGDHGGIITAIAQGMETNELKYSTNEGETWKTFIFSEKPVFVYGLLTEPGEKSTVFTIFGSNKENVHSWLILQVNATDALGVPCTENDYKLWSPSDERGNECLLGHKTVFKRRTPHATCFNGEDFDRPVVVSNCSCTREDYECDFGFKMSEDLSLEVCVPDPEFSGKSYSPPVPCPVGSTYRRTRGYRKISGDTCSGGDVEARLEGELVPCPLAEENEFILYAVRKSIYRYDLASGATEQLPLTGLRAAVALDFDYEHNCLYWSDLALDVIQRLCLNGSTGQEVIINSGLETVEALAFEPLSQLLYWVDAGFKKIEVANPDGDFRLTIVNSSVLDRPRALVLVPQEGVMFWTDWGDLKPGIYRSNMDGSAAYHLVSEDVKWPNGISVDDQWIYWTDAYLECIERITFSGQQRSVILDNLPHPYAIAVFKNEIYWDDWSQLSIFRASKYSGSQMEILANQLTGLMDMKIFYKGKNTGSNACVPRPCSLLCLPKANNSRSCRCPEDVSSSVLPSGDLMCDCPQGYQLKNNTCVKQENTCLRNQYRCSNGNCINSIWWCDFDNDCGDMSDERNCPTTICDLDTQFRCQESGTCIPLSYKCDLEDDCGDNSDESHCEMHQCRSDEYNCSSGMCIRSSWVCDGDNDCRDWSDEANCTAIYHTCEASNFQCRNGHCIPQRWACDGDTDCQDGSDEDPVNCEKKCNGFRCPNGTCIPSSKHCDGLRDCSDGSDEQHCEPLCTHFMDFVCKNRQQCLFHSMVCDGIIQCRDGSDEDAAFAGCSQDPEFHKVCDEFGFQCQNGVCISLIWKCDGMDDCGDYSDEANCENPTEAPNCSRYFQFRCENGHCIPNRWKCDRENDCGDWSDEKDCGDSHILPFSTPGPSTCLPNYYRCSSGTCVMDTWVCDGYRDCADGSDEEACPLLANVTAASTPTQLGRCDRFEFECHQPKTCIPNWKRCDGHQDCQDGRDEANCPTHSTLTCMSREFQCEDGEACIVLSERCDGFLDCSDESDEKACSDELTVYKVQNLQWTADFSGDVTLTWMRPKKMPSASCVYNVYYRVVGESIWKTLETHSNKTNTVLKVLKPDTTYQVKVQVQCLSKAHNTNDFVTLRTPEGLPDAPRNLQLSLPREAEGVIVGHWAPPIHTHGLIREYIVEYSRSGSKMWASQRAASNFTEIKNLLVNTLYTVRVAAVTSRGIGNWSDSKSITTIKGKVIPPPDIHIDSYGENYLSFTLTMESDIKVNGYVVNLFWAFDTHKQERRTLNFRGSILSHKVGNLTAHTSYEISAWAKTDLGDSPLAFEHVMTRGVRPPAPSLKAKAINQTAVECTWTGPRNVVYGIFYATSFLDLYRNPKSLTTSLHNKTVIVSKDEQYLFLVRVVVPYQGPSSDYVVVKMIPDSRLPPRHLHVVHTGKTSVVIKWESPYDSPDQDLLYAVAVKDLIRKTDRSYKVKSRNSTVEYTLNKLEPGGKYHIIVQLGNMSKDSSIKITTVSLSAPDALKIITENDHVLLFWKSLALKEKHFNESRGYEIHMFDSAMNITAYLGNTTDNFFKISNLKMGHNYTFTVQARCLFGNQICGEPAILLYDELGSGADASATQAARSTDVAAVVVPILFLILLSLGVGFAILYTKHRRLQSSFTAFANSHYSSRLGSAIFSSGDDLGEDDEDAPMITGFSDDVPMVIA*