Special

HsaEX0015332 @ hg19

Exon Skipping

Gene
Description
cholinergic receptor, nicotinic, epsilon (muscle) [Source:HGNC Symbol;Acc:1966]
Coordinates
chr17:4802296-4802877:-
Coord C1 exon
chr17:4802763-4802877
Coord A exon
chr17:4802493-4802679
Coord C2 exon
chr17:4802296-4802402
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-'8-9,'8-8,9-9
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
Chicken
(galGal4)
Chicken
(galGal3)
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