HsaEX1026226 @ hg38
Exon Skipping
Gene
ENSG00000073969 | NSF
Description
N-ethylmaleimide sensitive factor, vesicle fusing ATPase [Source:HGNC Symbol;Acc:HGNC:8016]
Coordinates
chr17:46728855-46749907:+
Coord C1 exon
chr17:46728855-46728934
Coord A exon
chr17:46742321-46742514
Coord C2 exon
chr17:46749773-46749907
Length
194 bp
Sequences
Splice sites
3' ss Seq
TATAATGTGCATTTTTCTAGGAC
3' ss Score
8.96
5' ss Seq
ATAGTAAGT
5' ss Score
8.65
Exon sequences
Seq C1 exon
ATTACGTCCCTATTGGCCCTCGATTTTCAAATCTTGTATTACAGGCTCTTCTCGTTTTACTGAAAAAGGCACCTCCTCAG
Seq A exon
GACCAGAAAGTAATAATGAAGGAGTGATCTGCTACCCTTGAAAGCTATACTGGGATTATCATTCATTCAGTGCATATTTATTAACTTTGTACTTTGTACAAGGCAGTATGCTAGCCCTGGAAACATCAGTAAAGCCAAACCGACTTAAGTCCTGTCCTGATGAAGGAGAACTAGCAAGAAATACAGTAAATATA
Seq C2 exon
GGCCGCAAGCTTCTTATCATTGGGACCACTAGCCGCAAAGATGTCCTTCAGGAGATGGAAATGCTTAACGCTTTCAGCACCACCATCCACGTGCCCAACATTGCCACAGGAGAGCAGCTGTTGGAAGCTTTGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000073969_CASSETTE1
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.500 C2=0.000
Domain overlap (PFAM):
C1:
PF0000424=AAA=FE(19.8=100)
A:
PF0000424=AAA=PD(4.8=55.6)
C2:
PF0000424=AAA=PD(24.4=71.1)
Main Inclusion Isoform:
ENST00000398238fB21428
Other Inclusion Isoforms:
NA
Associated events
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TTACGTCCCTATTGGCCCTCG
R:
CTTCCAACAGCTGCTCTCCTG
Band lengths:
206-400
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains