Special

HsaEX0043897 @ hg19

Exon Skipping

Gene
Description
N-ethylmaleimide-sensitive factor [Source:HGNC Symbol;Acc:8016]
Coordinates
chr17:44703979-44714908:+
Coord C1 exon
chr17:44703979-44704078
Coord A exon
chr17:44707777-44707816
Coord C2 exon
chr17:44714742-44714908
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-'4-5,'4-4,5-5
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.029 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)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Chicken
(galGal4)
HIGH PSI
(NSF)
Zebrafish
(danRer10)
HIGH PSI
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