ENST00000406438.5 SMCR8
Information
- Transcript ID
- ENST00000406438.5
- Genome
- hg38
- Position
- chr17:18,315,293-18,328,056
- Strand
- +
- CDS length
- 2,814
- Amino acid length
- 938
- Gene symbol
- SMCR8
- Gene type
- protein-coding
- Gene description
- SMCR8-C9orf72 complex subunit
- Gene Entrez Gene ID
- 140775
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 | 18,315,293 | 18,318,149 |
| 2 | 18,322,617 | 18,328,056 |
CDS
| Exon number | Type | Start | Stop |
|---|---|---|---|
| 1 | CDS | 18,315,790 | 18,318,149 |
| 2 | CDS | 18,322,617 | 18,323,070 |
Other genome
| Genome | Chromosome | Start | End | Links |
|---|---|---|---|---|
| hg19 | chr17 | 18,218,607 | 18,231,370 | Link |
CDS sequence
ATGATCAGCGCCCCTGACGTAGTGGCCTTCACCAAAGAGGAAGAGTATGAAGAAGAGCCTTACAATGAGCCGGCCCTGCCTGAGGAGTACTCGGTGCCGCTCTTCCCCTTCGCCAGTCAGGGTGCTAACCCCTGGTCAAAACTGTCCGGGGCCAAGTTTTCGAGGGACTTCATTCTTATTTCCGAGTTCTCTGAGCAGGTGGGACCCCAACCCTTACTGACCATCCCCAATGACACCAAAGTTTTTGGCACTTTTGATCTCAATTACTTCTCCCTGCGTATCATGTCTGTGGATTACCAGGCTTCCTTCGTGGGCCATCCTCCTGGATCTGCCTACCCCAAGCTGAACTTCGTGGAGGACTCCAAGGTGGTGCTGGGAGATTCTAAGGAGGGCGCCTTTGCATACGTGCACCACCTTACCCTATACGACCTGGAGGCCCGTGGCTTCGTGAGGCCGTTTTGCATGGCTTATATCTCTGCAGACCAGCATAAAATCATGCAGCAGTTCCAGGAGCTTTCAGCCGAATTTTCCAGAGCTTCTGAGTGCTTGAAGACTGGCAACAGGAAGGCATTTGCTGGGGAACTTGAAAAAAAGCTGAAAGACTTGGATTACACCAGGACAGTGCTACACACAGAAACGGAGATCCAGAAGAAAGCCAACGACAAAGGCTTTTACTCATCTCAGGCAATTGAGAAAGCCAATGAACTGGCCAGTGTGGAGAAGTCCATCATTGAACATCAAGACCTGCTGAAGCAGATCCGCTCATACCCTCATCGGAAGTTGAAGGGGCATGATTTGTGTCCTGGTGAGATGGAGCACATCCAGGATCAGGCCAGCCAGGCATCCACTACCTCTAACCCTGATGAGTCTGCCGACACAGACCTTTACACCTGCAGACCAGCCTACACCCCAAAACTTATCAAAGCAAAGTCCACCAAGTGTTTTGACAAGAAGTTGAAGACCTTGGAGGAGCTCTGTGACACTGAATATTTCACCCAGACCCTGGCTCAGCTCAGCCACATTGAACACATGTTCAGAGGAGACCTGTGTTACCTCCTGACCAGTCAGATTGATAGAGCACTTCTAAAACAACAGCATATAACAAACTTTCTCTTTGAAGACTTTGTGGAGGTCGATGACAGGATGGTGGAGAAACAAGAAAGCATACCCTCTAAGCCCAGTCAAGACAGGCCGCCTTCCAGTTCTCTAGAAGAATGCCCAATTCCTAAAGTGTTAATTAGTGTTGGTTCTTACAAGTCCAGTGTGGAGTCTGTGTTGATCAAGATGGAGCAGGAACTGGGAGATGAGGAGTACAAGGAAGTGGAAGTGACTGAGTTGAGCAGTTTCGACCCCCAGGAAAACTTGGACTACCTGGATATGGATATGAAAGGGAGTATCAGCAGTGGTGAAAGTATTGAAGTTTTGGGCACGGAGAAATCCACCTCCGTGCTTTCTAAATCTGACAGCCAGGCAAGCCTCACAGTACCATTGAGCCCCCAGGTGGTCCGGAGCAAAGCAGTCAGCCACAGGACCATCAGCGAGGACAGTATTGAAGTCCTCAGTACCTGCCCCTCTGAGGCCCTCATCCCTGATGACTTTAAGGCCAGCTACCCAAGTGCCATTAATGAAGAAGAATCATATCCAGATGGCAATGAAGGAGCCATCCGCTTCCAGGCAAGCATCAGTCCTCCAGAACTGGGTGAGACAGAGGAAGGCAGCATAGAAAACACCCCATCACAAATAGACTCCTCCTGCTGTATTGGGAAGGAGAGCGATGGTCAGTTGGTGCTGCCCTCCACTCCAGCCCACACACACTCTGACGAGGATGGGGTGGTGAGCAGCCCCCCACAGCGCCACAGGCAGAAGGACCAGGGGTTCCGTGTAGACTTTTCAGTGGAAAATGCCAACCCTTCTTCCCGAGACAACAGTTGTGAAGGGTTTCCCGCTTATGAGCTGGACCCGAGCCACCTGCTGGCTAGCCGGGACATCAGTAAGACCAGCCTGGACAACTACTCAGACACCACCAGCTACGTGAGCAGTGTAGCGTCCACCAGCTCAGACAGGATCCCCTCTGCTTATCCTGCTGGCCTGTCTTCCGATAGGCATAAAAAGAGGGCTGGCCAGAACGCCTTAAAATTCATCCGCCAGTACCCCTTTGCCCACCCAGCCATCTACTCCCTGCTCAGTGGGAGGACACTTGTGGTCCTGGGGGAAGATGAGGCCATAGTCAGGAAACTCGTGACTGCACTGGCTATCTTTGTCCCCAGCTATGGCTGCTACGCTAAGCCCGTGAAACATTGGGCCTCCTCCCCTTTGCACATTATGGATTTTCAGAAGTGGAAGCTTATTGGCTTGCAGAGAGTGGCCTCCCCTGCCGGTGCCGGTACCCTCCATGCCCTGAGCCGCTACAGCCGCTACACGAGCATCCTGGACCTTGACAACAAAACCCTGCGCTGCCCCCTTTACAGAGGCACCCTGGTGCCCCGCCTGGCAGACCACCGCACACAGATCAAGCGGGGCAGCACCTACTACCTGCATGTCCAGAGCATGCTCACCCAGCTCTGCTCCAAGGCCTTCCTCTACACCTTCTGCCACCACCTGCACCTGCCTACCCACGACAAGGAGACAGAGGAGCTGGTAGCCAGCCGCCAGATGAGCTTCCTAAAGCTGACCCTGGGTCTGGTGAATGAGGATGTTAGGGTGGTCCAGTACCTGGCTGAGCTGCTGAAGCTGCACTACATGCAGGAATCTCCAGGGACCAGCCACCCCATGCTCAGGTTTGACTATGTCCCCAGCTTTTTGTATAAAATCTGA
Amino sequence
MISAPDVVAFTKEEEYEEEPYNEPALPEEYSVPLFPFASQGANPWSKLSGAKFSRDFILISEFSEQVGPQPLLTIPNDTKVFGTFDLNYFSLRIMSVDYQASFVGHPPGSAYPKLNFVEDSKVVLGDSKEGAFAYVHHLTLYDLEARGFVRPFCMAYISADQHKIMQQFQELSAEFSRASECLKTGNRKAFAGELEKKLKDLDYTRTVLHTETEIQKKANDKGFYSSQAIEKANELASVEKSIIEHQDLLKQIRSYPHRKLKGHDLCPGEMEHIQDQASQASTTSNPDESADTDLYTCRPAYTPKLIKAKSTKCFDKKLKTLEELCDTEYFTQTLAQLSHIEHMFRGDLCYLLTSQIDRALLKQQHITNFLFEDFVEVDDRMVEKQESIPSKPSQDRPPSSSLEECPIPKVLISVGSYKSSVESVLIKMEQELGDEEYKEVEVTELSSFDPQENLDYLDMDMKGSISSGESIEVLGTEKSTSVLSKSDSQASLTVPLSPQVVRSKAVSHRTISEDSIEVLSTCPSEALIPDDFKASYPSAINEEESYPDGNEGAIRFQASISPPELGETEEGSIENTPSQIDSSCCIGKESDGQLVLPSTPAHTHSDEDGVVSSPPQRHRQKDQGFRVDFSVENANPSSRDNSCEGFPAYELDPSHLLASRDISKTSLDNYSDTTSYVSSVASTSSDRIPSAYPAGLSSDRHKKRAGQNALKFIRQYPFAHPAIYSLLSGRTLVVLGEDEAIVRKLVTALAIFVPSYGCYAKPVKHWASSPLHIMDFQKWKLIGLQRVASPAGAGTLHALSRYSRYTSILDLDNKTLRCPLYRGTLVPRLADHRTQIKRGSTYYLHVQSMLTQLCSKAFLYTFCHHLHLPTHDKETEELVASRQMSFLKLTLGLVNEDVRVVQYLAELLKLHYMQESPGTSHPMLRFDYVPSFLYKI*