NSF N-ethylmaleimide sensitive factor, vesicle fusing ATPase

Information
Symbol
NSF
Type
protein-coding
Description
N-ethylmaleimide sensitive factor, vesicle fusing ATPase
Entrez Gene ID
4905
Genome
hg19
Position
chr17:44,668,035-44,834,830
Genome
hg38
Position
chr17:46,590,669-46,757,464
MIM
601633 OMIM
HGNC
HGNC:8016 HGNC
Ensembl
ENSG00000073969 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 4
Likely pathogenic 0 4
Benign 0 2
Likely benign 0 12
not provided 0 2
Uncertain significance 0 24
Ranking
ClinVar
0
0
4
36
2
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
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
TypeID
SYNONYM DEE96
SYNONYM SEC18
SYNONYM SKD2
MIM 601633 OMIM
HGNC HGNC:8016 HGNC
Ensembl ENSG00000073969 Ensembl
AllianceGenome HGNC:8016
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000575068.5 hg38 chr17 46,624,036 46,756,059 132,024
ENST00000398238.8 hg38 chr17 46,590,669 46,757,464 166,796
ENST00000706399.1 hg38 chr17 46,590,731 46,757,459 166,729
ENST00000465370.2 hg38 chr17 46,590,694 46,757,450 166,757
ENST00000706398.1 hg38 chr17 46,590,720 46,757,459 166,740
ENST00000576040.6 hg38 chr17 46,591,021 46,757,679 166,659
ENST00000706400.1 hg38 chr17 46,590,734 46,757,679 166,946
ENST00000706395.1 hg38 chr17 46,590,720 46,757,459 166,740
ENST00000706396.1 hg38 chr17 46,590,720 46,757,459 166,740
ENST00000706392.1 hg38 chr17 46,590,694 46,757,447 166,754
ENST00000706393.1 hg38 chr17 46,590,694 46,757,450 166,757
ENST00000706391.1 hg38 chr17 46,590,694 46,757,445 166,752
ENST00000706373.1 hg38 chr17 46,590,694 46,756,135 165,442
ENST00000398238.8 hg19 chr17 44,668,035 44,834,830 166,796
ENST00000706373.1 hg19 chr17 44,668,060 44,833,501 165,442
ENST00000575068.5 hg19 chr17 44,701,402 44,833,425 132,024
ENST00000706393.1 hg19 chr17 44,668,060 44,834,816 166,757
ENST00000465370.2 hg19 chr17 44,668,060 44,834,816 166,757
ENST00000706391.1 hg19 chr17 44,668,060 44,834,811 166,752
ENST00000706392.1 hg19 chr17 44,668,060 44,834,813 166,754
ENST00000706395.1 hg19 chr17 44,668,086 44,834,825 166,740
ENST00000706396.1 hg19 chr17 44,668,086 44,834,825 166,740
ENST00000706398.1 hg19 chr17 44,668,086 44,834,825 166,740
ENST00000706399.1 hg19 chr17 44,668,097 44,834,825 166,729
ENST00000576040.6 hg19 chr17 44,668,387 44,835,045 166,659
ENST00000706400.1 hg19 chr17 44,668,100 44,835,045 166,946
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