HsaEX0015331 @ hg19
Exon Skipping
Gene
ENSG00000108556 | CHRNE
Description
cholinergic receptor, nicotinic, epsilon (muscle) [Source:HGNC Symbol;Acc:1966]
Coordinates
chr17:4802763-4804485:-
Coord C1 exon
chr17:4804285-4804485
Coord A exon
chr17:4804088-4804202
Coord C2 exon
chr17:4802763-4802877
Length
115 bp
Sequences
Splice sites
3' ss Seq
CTCACTGGCTCTCCCTCCAGCCG
3' ss Score
9.53
5' ss Seq
CAGGTGAAG
5' ss Score
6.66
Exon sequences
Seq C1 exon
AGAACGGCGAGTGGGCCATCGACTTCTGCCCGGGGGTGATCCGCCGCCACCACGGTGGCGCCACCGACGGCCCAGGGGAGACTGACGTCATCTACTCGCTCATCATCCGCCGGAAGCCGCTCTTCTACGTCATTAACATCATCGTGCCCTGTGTGCTCATCTCGGGCCTGGTGCTGCTCGCCTACTTCCTGCCGGCGCAGG
Seq A exon
CCGGCGGCCAGAAATGCACGGTCTCCATCAACGTCCTGCTCGCCCAGACCGTCTTCTTGTTCCTCATTGCCCAGAAAATCCCAGAGACTTCTCTGAGCGTGCCGCTCCTGGGCAG
Seq C2 exon
GTTCCTTATTTTCGTCATGGTGGTCGCCACGCTCATTGTCATGAATTGCGTCATCGTGCTCAACGTGTCCCAGCGGACGCCCACCACCCACGCCATGTCCCCGCGGCTGCGCCAC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000108556-'6-7,'6-6,7-7
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=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0293118=Neur_chan_LBD=PD(18.0=57.4),PF0293211=Neur_chan_memb=PU(9.2=30.9)
A:
PF0293211=Neur_chan_memb=FE(16.7=100)
C2:
PF0293211=Neur_chan_memb=FE(16.7=100)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAGTGGGCCATCGACTTCTG
R:
TGAGCACGATGACGCAATTCA
Band lengths:
255-370
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)