ENST00000706399.1 NSF
Information
- Transcript ID
- ENST00000706399.1
- Genome
- hg19
- Position
- chr17:44,668,097-44,834,825
- Strand
- +
- CDS length
- 1,953
- Amino acid length
- 651
- Gene symbol
- NSF
- Gene type
- protein-coding
- Gene description
- N-ethylmaleimide sensitive factor, vesicle fusing ATPase
- Gene Entrez Gene ID
- 4905
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 | 44,668,097 | 44,668,153 |
| 2 | 44,714,742 | 44,714,908 |
| 3 | 44,717,420 | 44,717,527 |
| 4 | 44,718,009 | 44,718,084 |
| 5 | 44,720,470 | 44,720,625 |
| 6 | 44,751,780 | 44,751,979 |
| 7 | 44,770,269 | 44,770,434 |
| 8 | 44,771,213 | 44,771,287 |
| 9 | 44,771,841 | 44,772,028 |
| 10 | 44,782,125 | 44,782,220 |
| 11 | 44,788,329 | 44,788,485 |
| 12 | 44,791,219 | 44,791,352 |
| 13 | 44,803,915 | 44,803,981 |
| 14 | 44,806,221 | 44,806,300 |
| 15 | 44,827,139 | 44,827,273 |
| 16 | 44,828,869 | 44,828,982 |
| 17 | 44,832,680 | 44,832,735 |
| 18 | 44,833,168 | 44,834,825 |
CDS
| Exon number | Type | Start | Stop |
|---|---|---|---|
| 2 | CDS | 44,714,786 | 44,714,908 |
| 3 | CDS | 44,717,420 | 44,717,527 |
| 4 | CDS | 44,718,009 | 44,718,084 |
| 5 | CDS | 44,720,470 | 44,720,625 |
| 6 | CDS | 44,751,780 | 44,751,979 |
| 7 | CDS | 44,770,269 | 44,770,434 |
| 8 | CDS | 44,771,213 | 44,771,287 |
| 9 | CDS | 44,771,841 | 44,772,028 |
| 10 | CDS | 44,782,125 | 44,782,220 |
| 11 | CDS | 44,788,329 | 44,788,485 |
| 12 | CDS | 44,791,219 | 44,791,352 |
| 13 | CDS | 44,803,915 | 44,803,981 |
| 14 | CDS | 44,806,221 | 44,806,300 |
| 15 | CDS | 44,827,139 | 44,827,273 |
| 16 | CDS | 44,828,869 | 44,828,982 |
| 17 | CDS | 44,832,680 | 44,832,735 |
| 18 | CDS | 44,833,168 | 44,833,189 |
Other genome
| Genome | Chromosome | Start | End | Links |
|---|---|---|---|---|
| hg38 | chr17 | 46,590,731 | 46,757,459 | Link |
CDS sequence
ATGACCATCGAGATTGATTTCCTGCAGAAAAAAAGCATTGACTCCAACCCTTATGACACCGACAAGATGGCAGCAGAATTTATTCAGCAATTCAACAACCAGGCCTTCTCAGTGGGACAACAGCTTGTCTTTAGCTTCAATGAAAAGCTTTTTGGCTTACTGGTGAAGGACATTGAAGCCATGGATCCTAGCATCCTGAAGGGAGAGCCTGCGACAGGGAAAAGGCAGAAGATTGAAGTAGGACTGGTTGTTGGAAACAGTCAAGTTGCATTTGAAAAAGCAGAAAATTCGTCACTTAATCTTATTGGCAAAGCTAAAACCAAGGAAAATCGCCAATCAATTATCAATCCTGACTGGAACTTTGAAAAAATGGGAATAGGAGGTCTAGACAAGGAATTTTCAGATATTTTCCGACGAGCATTTGCTTCCCGAGTATTTCCTCCAGAGATTGTGGAGCAGATGGGTTGTAAACATGTTAAAGGCATCCTGTTATATGGACCCCCAGGTTGTGGTAAGACTCTCTTGGCTCGACAGATTGGCAAGATGTTGAATGCAAGAGAGCCCAAAGTGGTCAATGGGCCAGAAATCCTTAACAAATATGTGGGAGAATCAGAGGCTAACATTCGCAAACTTTTTGCTGATGCTGAAGAGGAGCAAAGGAGGCTTGGTGCTAACAGTGGTTTGCACATCATCATCTTTGATGAAATTGATGCCATCTGCAAGCAGAGAGGGAGCATGGCTGGTAGCACGGGAGTTCATGACACTGTTGTCAACCAGTTGCTGTCCAAAATTGATGGCGTGGAGCAGCTAAACAACATCCTAGTCATTGGAATGACCAATAGACCAGATCTGATAGATGAGGCTCTTCTTAGACCTGGAAGACTGGAAGTTAAAATGGAGATAGGCTTGCCAGATGAGAAAGGCCGACTACAGATTCTTCACATCCACACAGCAAGAATGAGAGGGCATCAGTTACTCTCTGCTGATGTAGACATTAAAGAACTGGCCGTGGAGACCAAGAATTTCAGTGGTGCTGAATTGGAGGGTCTGGTGCGAGCAGCCCAGTCCACTGCTATGAATAGACACATAAAGGCCAGTACTAAAGTGGAAGTGGACATGGAGAAAGCAGAAAGCCTGCAAGTGACGAGAGGAGACTTCCTTGCTTCTTTGGAGAATGATATCAAACCAGCCTTTGGCACAAACCAAGAAGATTATGCAAGTTACATTATGAACGGTATCATCAAATGGGGTGACCCAGTTACTCGAGTTCTAGATGATGGGGAGCTGCTGGTGCAGCAGACTAAGAACAGTGACCGCACACCATTGGTCAGCGTGCTTCTGGAAGGCCCTCCTCACAGTGGGAAGACTGCTTTAGCTGCAAAAATTGCAGAGGAATCCAACTTCCCGTTCATCAAGATCTGTTCTCCTGATAAAATGATTGGCTTTTCTGAAACAGCCAAATGTCAGGCCATGAAGAAGATCTTTGATGATGCGTACAAATCCCAGCTCAGTTGTGTGGTTGTGGATGACATTGAGAGATTGCTTGATTACGTCCCTATTGGCCCTCGATTTTCAAATCTTGTATTACAGGCTCTTCTCGTTTTACTGAAAAAGGCACCTCCTCAGGGCCGCAAGCTTCTTATCATTGGGACCACTAGCCGCAAAGATGTCCTTCAGGAGATGGAAATGCTTAACGCTTTCAGCACCACCATCCACGTGCCCAACATTGCCACAGGAGAGCAGCTGTTGGAAGCTTTGGAGCTTTTGGGCAACTTCAAGGATAAGGAACGCACCACAATTGCACAGCAAGTCAAAGGGAAGAAGGTCTGGATAGGAATCAAGAAGTTACTAATGCTGATCGAGATGTCCCTACAGATGGATCCTGAATACCGTGTGAGAAAATTCTTGGCCCTCTTAAGAGAAGAAGGAGCTAGCCCCCTTGATTTTGATTGA
Amino sequence
MTIEIDFLQKKSIDSNPYDTDKMAAEFIQQFNNQAFSVGQQLVFSFNEKLFGLLVKDIEAMDPSILKGEPATGKRQKIEVGLVVGNSQVAFEKAENSSLNLIGKAKTKENRQSIINPDWNFEKMGIGGLDKEFSDIFRRAFASRVFPPEIVEQMGCKHVKGILLYGPPGCGKTLLARQIGKMLNAREPKVVNGPEILNKYVGESEANIRKLFADAEEEQRRLGANSGLHIIIFDEIDAICKQRGSMAGSTGVHDTVVNQLLSKIDGVEQLNNILVIGMTNRPDLIDEALLRPGRLEVKMEIGLPDEKGRLQILHIHTARMRGHQLLSADVDIKELAVETKNFSGAELEGLVRAAQSTAMNRHIKASTKVEVDMEKAESLQVTRGDFLASLENDIKPAFGTNQEDYASYIMNGIIKWGDPVTRVLDDGELLVQQTKNSDRTPLVSVLLEGPPHSGKTALAAKIAEESNFPFIKICSPDKMIGFSETAKCQAMKKIFDDAYKSQLSCVVVDDIERLLDYVPIGPRFSNLVLQALLVLLKKAPPQGRKLLIIGTTSRKDVLQEMEMLNAFSTTIHVPNIATGEQLLEALELLGNFKDKERTTIAQQVKGKKVWIGIKKLLMLIEMSLQMDPEYRVRKFLALLREEGASPLDFD*