HsaEX0043897 @ hg38
Exon Skipping
Gene
ENSG00000073969 | NSF
Description
N-ethylmaleimide sensitive factor, vesicle fusing ATPase [Source:HGNC Symbol;Acc:HGNC:8016]
Coordinates
chr17:46626613-46637542:+
Coord C1 exon
chr17:46626613-46626712
Coord A exon
chr17:46630411-46630450
Coord C2 exon
chr17:46637376-46637542
Length
40 bp
Sequences
Splice sites
3' ss Seq
TCTTTTTTTCTCCTTTACAGAGA
3' ss Score
11.78
5' ss Seq
AAGGTAGGT
5' ss Score
10.29
Exon sequences
Seq C1 exon
GCATGTGATTGTGAGGACCTCTCCCAATCACAGGTACACATTTACACTGAAGACACATCCATCGGTGGTTCCAGGGAGCATTGCATTCAGTTTACCTCAG
Seq A exon
AGAAAATGGGCTGGGCTTTCTATTGGGCAAGAAATAGAAG
Seq C2 exon
TCTCCTTATATACATTTGACAAAGCCAAACAGTGTATTGGCACAATGACCATCGAGATTGATTTCCTGCAGAAAAAAAGCATTGACTCCAACCCTTATGACACCGACAAGATGGCAGCAGAATTTATTCAGCAATTCAACAACCAGGCCTTCTCAGTGGGACAACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000073969-'16-14,'16-10,17-14
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.045 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0235913=CDC48_N=PD(34.9=83.3)
A:
PF0235913=CDC48_N=FE(15.9=100)
C2:
PF0235913=CDC48_N=PD(7.3=10.7),PF0293312=CDC48_2=PU(30.4=42.9)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCAGGGAGCATTGCATTCAGT
R:
CTGCCATCTTGTCGGTGTCAT
Band lengths:
147-187
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development