Special

HsaEX0015332 @ hg38

Exon Skipping

Gene
Description
cholinergic receptor nicotinic epsilon subunit [Source:HGNC Symbol;Acc:HGNC:1966]
Coordinates
chr17:4899001-4899582:-
Coord C1 exon
chr17:4899468-4899582
Coord A exon
chr17:4899198-4899384
Coord C2 exon
chr17:4899001-4899107
Length
187 bp
Sequences
Splice sites
3' ss Seq
AAGCCCCGCCCCTGCCCCAGGTT
3' ss Score
4.69
5' ss Seq
CGGGTGAGC
5' ss Score
8.19
Exon sequences
Seq C1 exon
GTTCCTTATTTTCGTCATGGTGGTCGCCACGCTCATTGTCATGAATTGCGTCATCGTGCTCAACGTGTCCCAGCGGACGCCCACCACCCACGCCATGTCCCCGCGGCTGCGCCAC
Seq A exon
GTTCTCCTGGAGCTGCTGCCGCGCCTCCTGGGCTCCCCGCCGCCGCCCGAGGCCCCCCGGGCCGCCTCGCCCCCAAGGCGGGCGTCGTCGGTGGGCTTATTGCTCCGCGCGGAGGAGCTGATACTGAAAAAGCCACGGAGCGAGCTCGTGTTTGAGGGGCAGAGGCACCGGCAGGGGACCTGGACGG
Seq C2 exon
CTGCCTTCTGCCAGAGCCTGGGCGCCGCCGCCCCCGAGGTCCGCTGCTGTGTGGATGCCGTGAACTTCGTGGCCGAGAGCACGAGAGATCAGGAGGCCACCGGCGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000108556-'16-12,'16-11,17-12
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.175 C2=0.056
Domain overlap (PFAM):

C1:
PF0293211=Neur_chan_memb=FE(16.7=100)
A:
PF0293211=Neur_chan_memb=FE(27.2=100)
C2:
PF0293211=Neur_chan_memb=FE(15.4=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Chicken
(galGal4)
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTTCCTTATTTTCGTCATGGTGGT
R:
CCGGTGGCCTCCTGATCTC
Band lengths:
218-405
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