ENST00000437366.2 NEFM
Information
- Transcript ID
- ENST00000437366.2
- Genome
- hg19
- Position
- chr8:24,771,277-24,776,603
- Strand
- +
- CDS length
- 2,634
- Amino acid length
- 878
- Gene symbol
- NEFM
- Gene type
- protein-coding
- Gene description
- neurofilament medium chain
- Gene Entrez Gene ID
- 4741
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 | 24,771,277 | 24,772,386 |
| 2 | 24,773,118 | 24,773,242 |
| 3 | 24,774,574 | 24,775,244 |
| 4 | 24,775,362 | 24,776,603 |
CDS
| Exon number | Type | Start | Stop |
|---|---|---|---|
| 1 | CDS | 24,771,307 | 24,772,386 |
| 2 | CDS | 24,773,118 | 24,773,242 |
| 3 | CDS | 24,774,574 | 24,775,244 |
| 4 | CDS | 24,775,362 | 24,776,119 |
Other genome
| Genome | Chromosome | Start | End | Links |
|---|---|---|---|---|
| hg38 | chr8 | 24,913,764 | 24,919,090 | Link |
CDS sequence
ATGAGCTACACGTTGGACTCGCTGGGCAACCCGTCCGCCTACCGGCGGGTAACCGAGACCCGCTCGAGCTTCAGCCGCGTCAGCGGCTCCCCGTCCAGTGGCTTCCGCTCGCAGTCGTGGTCCCGCGGCTCGCCCAGCACCGTGTCCTCCTCCTATAAGCGCAGCATGCTCGCCCCGCGCCTCGCTTACAGCTCGGCCATGCTCAGCTCCGCCGAGAGCAGCCTTGACTTCAGCCAGTCCTCGTCCCTGCTCAACGGCGGCTCCGGACCCGGCGGCGACTACAAGCTGTCCCGCTCCAACGAGAAGGAGCAGCTGCAGGGGCTGAACGACCGCTTTGCCGGCTACATAGAGAAGGTGCACTACCTGGAGCAGCAGAATAAGGAGATTGAGGCGGAGATCCAGGCGCTGCGGCAGAAGCAGGCCTCGCACGCCCAGCTGGGCGACGCGTACGACCAGGAGATCCGCGAGCTGCGCGCCACCCTGGAGATGGTGAACCACGAGAAGGCTCAGGTGCAGCTGGACTCGGACCACCTGGAGGAAGACATCCACCGGCTCAAGGAGCGCTTTGAGGAGGAGGCGCGGTTGCGCGACGACACTGAGGCGGCCATCCGCGCGCTGCGCAAAGACATCGAGGAGGCGTCGCTGGTCAAGGTGGAGCTGGACAAGAAGGTGCAGTCGCTGCAGGATGAGGTGGCCTTCCTGCGGAGCAACCACGAGGAGGAGGTGGCCGACCTTCTGGCCCAGATCCAGGCATCGCACATCACGGTGGAGCGCAAAGACTACCTGAAGACAGACATCTCGACGGCGCTGAAGGAAATCCGCTCCCAGCTCGAAAGCCACTCAGACCAGAATATGCACCAGGCCGAAGAGTGGTTCAAATGCCGCTACGCCAAGCTCACCGAGGCGGCCGAGCAGAACAAGGAGGCCATCCGCTCCGCCAAGGAAGAGATCGCCGAGTACCGGCGCCAGCTGCAGTCCAAGAGCATCGAGCTAGAGTCGGTGCGCGGCACCAAGGAGTCCCTGGAGCGGCAGCTCAGCGACATCGAGGAGCGCCACAACCACGACCTCAGCAGCTACCAGGACACCATCCAGCAGCTGGAAAATGAGCTTCGGGGCACAAAGTGGGAAATGGCTCGTCATTTGCGCGAATACCAGGACCTCCTCAACGTCAAGATGGCTCTGGATATAGAAATCGCTGCGTACAGAAAACTCCTGGAGGGTGAAGAGACTAGATTTAGCACATTTGCAGGAAGCATCACTGGGCCACTGTATACACACCGACCCCCAATCACAATATCCAGTAAGATTCAGAAACCCAAGGTGGAAGCTCCCAAGCTTAAGGTCCAACACAAATTTGTCGAGGAGATCATAGAGGAAACCAAAGTGGAGGATGAGAAGTCAGAAATGGAAGAGGCCCTGACAGCCATTACAGAGGAATTGGCCGTTTCCATGAAGGAAGAGAAGAAAGAAGCAGCAGAAGAAAAGGAAGAGGAACCCGAAGCTGAAGAAGAAGAAGTAGCTGCCAAAAAGTCTCCAGTGAAAGCAACTGCACCTGAAGTTAAAGAAGAGGAAGGGGAAAAGGAGGAAGAAGAAGGCCAGGAAGAAGAGGAGGAAGAAGATGAGGGAGCTAAGTCAGACCAAGCCGAAGAGGGAGGATCCGAGAAGGAAGGCTCTAGTGAAAAAGAGGAAGGTGAGCAGGAAGAAGGAGAAACAGAAGCTGAAGCTGAAGGAGAGGAAGCCGAAGCTAAAGAGGAAAAGAAAGTGGAGGAAAAGAGTGAGGAAGTGGCTACCAAGGAGGAGCTGGTGGCAGATGCCAAGGTGGAAAAGCCAGAAAAAGCCAAGTCTCCTGTGCCAAAATCACCAGTGGAAGAGAAAGGCAAGTCTCCTGTGTCAAAATCACCAGTGGAAGAGAAAGCCAAATCTCCTGTGCCAAAATCACCAGTGGAAGAGGCAAAGTCAAAAGCAGAAGTGGGGAAAGGTGAACAGAAAGAGGAAGAAGAAAAGGAAGTCAAGGAAGCTCCCAAGGAAGAGAAGGTAGAGAAAAAGGAAGAGAAACCAAAGGATGTGCCAGAGAAGAAGAAAGCTGAGTCCCCTGTAAAGGAGGAAGCTGTGGCAGAGGTGGTCACCATCACCAAATCGGTAAAGGTGCACTTGGAGAAAGAGACCAAAGAAGAGGGGAAGCCACTGCAGCAGGAGAAAGAGAAGGAGAAAGCGGGAGGAGAGGGAGGAAGTGAGGAGGAAGGGAGTGATAAAGGTGCCAAGGGATCCAGGAAGGAAGACATAGCTGTCAATGGGGAGGTAGAAGGAAAAGAGGAGGTAGAGCAGGAGACCAAGGAAAAAGGCAGTGGGAGGGAAGAGGAGAAAGGCGTTGTCACCAATGGCCTAGACTTGAGCCCAGCAGATGAAAAGAAGGGGGGTGATAAAAGTGAGGAGAAAGTGGTGGTGACCAAAACGGTAGAAAAAATCACCAGTGAGGGGGGAGATGGTGCTACCAAATACATCACTAAATCTGTAACCGTCACTCAAAAGGTTGAAGAGCATGAAGAGACCTTTGAGGAGAAACTAGTGTCTACTAAAAAGGTAGAAAAAGTCACTTCACACGCCATAGTAAAGGAAGTCACCCAGAGTGACTAA
Amino sequence
MSYTLDSLGNPSAYRRVTETRSSFSRVSGSPSSGFRSQSWSRGSPSTVSSSYKRSMLAPRLAYSSAMLSSAESSLDFSQSSSLLNGGSGPGGDYKLSRSNEKEQLQGLNDRFAGYIEKVHYLEQQNKEIEAEIQALRQKQASHAQLGDAYDQEIRELRATLEMVNHEKAQVQLDSDHLEEDIHRLKERFEEEARLRDDTEAAIRALRKDIEEASLVKVELDKKVQSLQDEVAFLRSNHEEEVADLLAQIQASHITVERKDYLKTDISTALKEIRSQLESHSDQNMHQAEEWFKCRYAKLTEAAEQNKEAIRSAKEEIAEYRRQLQSKSIELESVRGTKESLERQLSDIEERHNHDLSSYQDTIQQLENELRGTKWEMARHLREYQDLLNVKMALDIEIAAYRKLLEGEETRFSTFAGSITGPLYTHRPPITISSKIQKPKVEAPKLKVQHKFVEEIIEETKVEDEKSEMEEALTAITEELAVSMKEEKKEAAEEKEEEPEAEEEEVAAKKSPVKATAPEVKEEEGEKEEEEGQEEEEEEDEGAKSDQAEEGGSEKEGSSEKEEGEQEEGETEAEAEGEEAEAKEEKKVEEKSEEVATKEELVADAKVEKPEKAKSPVPKSPVEEKGKSPVSKSPVEEKAKSPVPKSPVEEAKSKAEVGKGEQKEEEEKEVKEAPKEEKVEKKEEKPKDVPEKKKAESPVKEEAVAEVVTITKSVKVHLEKETKEEGKPLQQEKEKEKAGGEGGSEEEGSDKGAKGSRKEDIAVNGEVEGKEEVEQETKEKGSGREEEKGVVTNGLDLSPADEKKGGDKSEEKVVVTKTVEKITSEGGDGATKYITKSVTVTQKVEEHEETFEEKLVSTKKVEKVTSHAIVKEVTQSD*