ENST00000538502.5 SORT1
Information
- Transcript ID
- ENST00000538502.5
- Genome
- hg19
- Position
- chr1:109,852,190-109,935,979
- 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
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 |
|---|---|---|
| 20 | 109,852,190 | 109,856,679 |
| 19 | 109,856,883 | 109,857,006 |
| 18 | 109,857,294 | 109,857,400 |
| 17 | 109,859,472 | 109,859,580 |
| 16 | 109,860,475 | 109,860,591 |
| 15 | 109,865,554 | 109,865,743 |
| 14 | 109,867,521 | 109,867,711 |
| 13 | 109,869,614 | 109,869,782 |
| 12 | 109,870,121 | 109,870,223 |
| 11 | 109,878,862 | 109,878,968 |
| 10 | 109,883,346 | 109,883,501 |
| 9 | 109,884,636 | 109,884,780 |
| 8 | 109,888,373 | 109,888,500 |
| 7 | 109,890,105 | 109,890,154 |
| 6 | 109,893,551 | 109,893,624 |
| 5 | 109,896,989 | 109,897,153 |
| 4 | 109,897,989 | 109,898,091 |
| 3 | 109,910,030 | 109,910,103 |
| 2 | 109,912,152 | 109,912,211 |
| 1 | 109,935,649 | 109,935,979 |
CDS
| Exon number | Type | Start | Stop |
|---|---|---|---|
| 20 | CDS | 109,856,665 | 109,856,679 |
| 19 | CDS | 109,856,883 | 109,857,006 |
| 18 | CDS | 109,857,294 | 109,857,400 |
| 17 | CDS | 109,859,472 | 109,859,580 |
| 16 | CDS | 109,860,475 | 109,860,591 |
| 15 | CDS | 109,865,554 | 109,865,743 |
| 14 | CDS | 109,867,521 | 109,867,711 |
| 13 | CDS | 109,869,614 | 109,869,782 |
| 12 | CDS | 109,870,121 | 109,870,223 |
| 11 | CDS | 109,878,862 | 109,878,968 |
| 10 | CDS | 109,883,346 | 109,883,501 |
| 9 | CDS | 109,884,636 | 109,884,780 |
| 8 | CDS | 109,888,373 | 109,888,500 |
| 7 | CDS | 109,890,105 | 109,890,154 |
| 6 | CDS | 109,893,551 | 109,893,624 |
| 5 | CDS | 109,896,989 | 109,897,153 |
| 4 | CDS | 109,897,989 | 109,898,091 |
| 3 | CDS | 109,910,030 | 109,910,061 |
Other genome
| Genome | Chromosome | Start | End | Links |
|---|---|---|---|---|
| hg38 | chr1 | 109,309,568 | 109,393,357 | Link |
CDS sequence
ATGACTTTTGGACAGTCCAAGCTATATCGAAGTGAGGATTATGGGAAGAACTTTAAGGATATTACAGATCTCATCAATAACACCTTTATTCGGACTGAATTTGGCATGGCTATTGGTCCTGAGAACTCTGGAAAGGTGGTGTTAACAGCAGAGGTGTCTGGAGGAAGTCGTGGAGGAAGAATCTTTAGATCATCAGATTTTGCGAAGAATTTTGTGCAAACAGATCTCCCTTTTCATCCTCTCACTCAGATGATGTATAGCCCTCAGAATTCTGATTATCTTTTAGCTCTCAGCACTGAAAATGGCCTGTGGGTGTCCAAGAATTTTGGGGGAAAATGGGAAGAAATCCACAAAGCAGTATGTTTGGCCAAATGGGGATCAGACAACACCATCTTCTTTACAACCTATGCAAATGGCTCCTGCACTGACCTTGGGGCTCTGGAATTATGGAGAACTTCAGACTTGGGAAAAAGCTTCAAAACTATTGGTGTGAAAATCTACTCATTTGGTCTTGGGGGACGTTTCCTTTTTGCCTCTGTGATGGCTGATAAGGATACAACAAGAAGGATCCACGTTTCAACAGATCAAGGGGACACATGGAGCATGGCCCAGCTCCCCTCCGTGGGACAGGAACAGTTCTATTCTATTCTGGCAGCAAATGATGACATGGTATTCATGCATGTAGATGAACCTGGAGACACTGGGTTTGGCACAATCTTTACCTCAGATGATCGAGGCATTGTCTATTCCAAGTCTTTGGACCGACATCTCTACACTACCACAGGCGGAGAGACGGACTTTACCAACGTGACCTCCCTCCGCGGCGTCTACATAACAAGCGTGCTCTCCGAAGATAATTCTATCCAGACCATGATCACTTTTGACCAAGGAGGAAGGTGGACGCACCTGAGGAAGCCTGAAAACAGTGAATGTGATGCTACAGCAAAAAACAAGAATGAGTGCAGCCTTCATATTCATGCTTCCTACAGCATCTCCCAGAAACTGAATGTTCCAATGGCCCCACTCTCAGAGCCGAATGCCGTAGGCATTGTCATTGCTCATGGTAGCGTGGGGGATGCCATCTCAGTGATGGTTCCAGATGTGTACATCTCAGATGATGGGGGTTACTCCTGGACAAAGATGCTGGAAGGACCCCACTATTACACCATCCTGGATTCTGGAGGCATCATTGTGGCCATTGAGCACAGCAGCCGTCCTATCAATGTGATTAAGTTCTCCACAGACGAAGGTCAATGCTGGCAAACCTACACGTTCACCAGGGACCCCATCTATTTCACTGGCCTAGCTTCAGAACCTGGAGCTAGGTCCATGAATATCAGCATTTGGGGCTTCACAGAATCTTTCCTGACCAGCCAGTGGGTCTCCTACACCATTGATTTTAAAGATATCCTTGAAAGGAACTGTGAAGAGAAGGACTATACCATATGGCTGGCACACTCCACAGACCCTGAAGATTATGAAGATGGCTGCATTTTGGGCTACAAAGAACAGTTTCTGCGGCTACGCAAGTCATCCGTGTGTCAGAATGGTCGAGACTATGTTGTGACCAAGCAGCCCTCCATCTGCCTCTGTTCCCTGGAGGACTTTCTCTGTGATTTTGGCTACTACCGTCCAGAAAATGACTCCAAGTGTGTGGAACAGCCAGAACTGAAGGGCCACGACCTGGAGTTTTGTCTGTACGGAAGAGAAGAACACCTAACAACAAATGGGTACCGGAAAATTCCAGGGGACAAATGCCAGGGTGGGGTAAATCCAGTTCGAGAAGTAAAAGACTTGAAAAAGAAATGCACAAGCAACTTTTTGAGTCCGGAAAAACAGAATTCCAAGTCAAATTCTGTTCCAATTATCCTGGCCATCGTGGGATTGATGCTGGTCACAGTCGTAGCAGGAGTGCTCATTGTGAAGAAATATGTCTGTGGGGGAAGGTTCCTGGTGCATCGATACTCTGTGCTGCAGCAGCATGCAGAGGCCAATGGTGTGGATGGTGTGGATGCTTTGGACACAGCCTCCCACACTAATAAAAGTGGTTATCATGATGACTCAGATGAGGACCTCTTGGAATAG
Amino sequence
MTFGQSKLYRSEDYGKNFKDITDLINNTFIRTEFGMAIGPENSGKVVLTAEVSGGSRGGRIFRSSDFAKNFVQTDLPFHPLTQMMYSPQNSDYLLALSTENGLWVSKNFGGKWEEIHKAVCLAKWGSDNTIFFTTYANGSCTDLGALELWRTSDLGKSFKTIGVKIYSFGLGGRFLFASVMADKDTTRRIHVSTDQGDTWSMAQLPSVGQEQFYSILAANDDMVFMHVDEPGDTGFGTIFTSDDRGIVYSKSLDRHLYTTTGGETDFTNVTSLRGVYITSVLSEDNSIQTMITFDQGGRWTHLRKPENSECDATAKNKNECSLHIHASYSISQKLNVPMAPLSEPNAVGIVIAHGSVGDAISVMVPDVYISDDGGYSWTKMLEGPHYYTILDSGGIIVAIEHSSRPINVIKFSTDEGQCWQTYTFTRDPIYFTGLASEPGARSMNISIWGFTESFLTSQWVSYTIDFKDILERNCEEKDYTIWLAHSTDPEDYEDGCILGYKEQFLRLRKSSVCQNGRDYVVTKQPSICLCSLEDFLCDFGYYRPENDSKCVEQPELKGHDLEFCLYGREEHLTTNGYRKIPGDKCQGGVNPVREVKDLKKKCTSNFLSPEKQNSKSNSVPIILAIVGLMLVTVVAGVLIVKKYVCGGRFLVHRYSVLQQHAEANGVDGVDALDTASHTNKSGYHDDSDEDLLE*