ENST00000706399.1 NSF

Information
Transcript ID
ENST00000706399.1
Genome
hg38
Position
chr17:46,590,731-46,757,459
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

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Target data :
MGeND data only
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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
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Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
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Target data :
MGeND data only
Category :
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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 46,590,731 46,590,787
2 46,637,376 46,637,542
3 46,640,054 46,640,161
4 46,640,643 46,640,718
5 46,643,104 46,643,259
6 46,674,414 46,674,613
7 46,692,903 46,693,068
8 46,693,847 46,693,921
9 46,694,475 46,694,662
10 46,704,759 46,704,854
11 46,710,963 46,711,119
12 46,713,853 46,713,986
13 46,726,549 46,726,615
14 46,728,855 46,728,934
15 46,749,773 46,749,907
16 46,751,503 46,751,616
17 46,755,314 46,755,369
18 46,755,802 46,757,459
CDS
Exon number Type Start Stop
2 CDS 46,637,420 46,637,542
3 CDS 46,640,054 46,640,161
4 CDS 46,640,643 46,640,718
5 CDS 46,643,104 46,643,259
6 CDS 46,674,414 46,674,613
7 CDS 46,692,903 46,693,068
8 CDS 46,693,847 46,693,921
9 CDS 46,694,475 46,694,662
10 CDS 46,704,759 46,704,854
11 CDS 46,710,963 46,711,119
12 CDS 46,713,853 46,713,986
13 CDS 46,726,549 46,726,615
14 CDS 46,728,855 46,728,934
15 CDS 46,749,773 46,749,907
16 CDS 46,751,503 46,751,616
17 CDS 46,755,314 46,755,369
18 CDS 46,755,802 46,755,823
Other genome
Genome Chromosome Start End Links
hg19 chr17 44,668,097 44,834,825 Link
CDS sequence
ATGACCATCGAGATTGATTTCCTGCAGAAAAAAAGCATTGACTCCAACCCTTATGACACCGACAAGATGGCAGCAGAATTTATTCAGCAATTCAACAACCAGGCCTTCTCAGTGGGACAACAGCTTGTCTTTAGCTTCAATGAAAAGCTTTTTGGCTTACTGGTGAAGGACATTGAAGCCATGGATCCTAGCATCCTGAAGGGAGAGCCTGCGACAGGGAAAAGGCAGAAGATTGAAGTAGGACTGGTTGTTGGAAACAGTCAAGTTGCATTTGAAAAAGCAGAAAATTCGTCACTTAATCTTATTGGCAAAGCTAAAACCAAGGAAAATCGCCAATCAATTATCAATCCTGACTGGAACTTTGAAAAAATGGGAATAGGAGGTCTAGACAAGGAATTTTCAGATATTTTCCGACGAGCATTTGCTTCCCGAGTATTTCCTCCAGAGATTGTGGAGCAGATGGGTTGTAAACATGTTAAAGGCATCCTGTTATATGGACCCCCAGGTTGTGGTAAGACTCTCTTGGCTCGACAGATTGGCAAGATGTTGAATGCAAGAGAGCCCAAAGTGGTCAATGGGCCAGAAATCCTTAACAAATATGTGGGAGAATCAGAGGCTAACATTCGCAAACTTTTTGCTGATGCTGAAGAGGAGCAAAGGAGGCTTGGTGCTAACAGTGGTTTGCACATCATCATCTTTGATGAAATTGATGCCATCTGCAAGCAGAGAGGGAGCATGGCTGGTAGCACGGGAGTTCATGACACTGTTGTCAACCAGTTGCTGTCCAAAATTGATGGCGTGGAGCAGCTAAACAACATCCTAGTCATTGGAATGACCAATAGACCAGATCTGATAGATGAGGCTCTTCTTAGACCTGGAAGACTGGAAGTTAAAATGGAGATAGGCTTGCCAGATGAGAAAGGCCGACTACAGATTCTTCACATCCACACAGCAAGAATGAGAGGGCATCAGTTACTCTCTGCTGATGTAGACATTAAAGAACTGGCCGTGGAGACCAAGAATTTCAGTGGTGCTGAATTGGAGGGTCTGGTGCGAGCAGCCCAGTCCACTGCTATGAATAGACACATAAAGGCCAGTACTAAAGTGGAAGTGGACATGGAGAAAGCAGAAAGCCTGCAAGTGACGAGAGGAGACTTCCTTGCTTCTTTGGAGAATGATATCAAACCAGCCTTTGGCACAAACCAAGAAGATTATGCAAGTTACATTATGAACGGTATCATCAAATGGGGTGACCCAGTTACTCGAGTTCTAGATGATGGGGAGCTGCTGGTGCAGCAGACTAAGAACAGTGACCGCACACCATTGGTCAGCGTGCTTCTGGAAGGCCCTCCTCACAGTGGGAAGACTGCTTTAGCTGCAAAAATTGCAGAGGAATCCAACTTCCCGTTCATCAAGATCTGTTCTCCTGATAAAATGATTGGCTTTTCTGAAACAGCCAAATGTCAGGCCATGAAGAAGATCTTTGATGATGCGTACAAATCCCAGCTCAGTTGTGTGGTTGTGGATGACATTGAGAGATTGCTTGATTACGTCCCTATTGGCCCTCGATTTTCAAATCTTGTATTACAGGCTCTTCTCGTTTTACTGAAAAAGGCACCTCCTCAGGGCCGCAAGCTTCTTATCATTGGGACCACTAGCCGCAAAGATGTCCTTCAGGAGATGGAAATGCTTAACGCTTTCAGCACCACCATCCACGTGCCCAACATTGCCACAGGAGAGCAGCTGTTGGAAGCTTTGGAGCTTTTGGGCAACTTCAAGGATAAGGAACGCACCACAATTGCACAGCAAGTCAAAGGGAAGAAGGTCTGGATAGGAATCAAGAAGTTACTAATGCTGATCGAGATGTCCCTACAGATGGATCCTGAATACCGTGTGAGAAAATTCTTGGCCCTCTTAAGAGAAGAAGGAGCTAGCCCCCTTGATTTTGATTGA
Amino sequence
MTIEIDFLQKKSIDSNPYDTDKMAAEFIQQFNNQAFSVGQQLVFSFNEKLFGLLVKDIEAMDPSILKGEPATGKRQKIEVGLVVGNSQVAFEKAENSSLNLIGKAKTKENRQSIINPDWNFEKMGIGGLDKEFSDIFRRAFASRVFPPEIVEQMGCKHVKGILLYGPPGCGKTLLARQIGKMLNAREPKVVNGPEILNKYVGESEANIRKLFADAEEEQRRLGANSGLHIIIFDEIDAICKQRGSMAGSTGVHDTVVNQLLSKIDGVEQLNNILVIGMTNRPDLIDEALLRPGRLEVKMEIGLPDEKGRLQILHIHTARMRGHQLLSADVDIKELAVETKNFSGAELEGLVRAAQSTAMNRHIKASTKVEVDMEKAESLQVTRGDFLASLENDIKPAFGTNQEDYASYIMNGIIKWGDPVTRVLDDGELLVQQTKNSDRTPLVSVLLEGPPHSGKTALAAKIAEESNFPFIKICSPDKMIGFSETAKCQAMKKIFDDAYKSQLSCVVVDDIERLLDYVPIGPRFSNLVLQALLVLLKKAPPQGRKLLIIGTTSRKDVLQEMEMLNAFSTTIHVPNIATGEQLLEALELLGNFKDKERTTIAQQVKGKKVWIGIKKLLMLIEMSLQMDPEYRVRKFLALLREEGASPLDFD*