Special

HsaEX0015328 @ hg19

Exon Skipping

Gene
Description
cholinergic receptor, nicotinic, delta (muscle) [Source:HGNC Symbol;Acc:1965]
Coordinates
chr2:233391239-233393081:+
Coord C1 exon
chr2:233391239-233391384
Coord A exon
chr2:233392111-233392155
Coord C2 exon
chr2:233392972-233393081
Length
45 bp
Sequences
Splice sites
3' ss Seq
GCCCTACCGTCTAATTACAGAAA
3' ss Score
6.89
5' ss Seq
CACGTAAGA
5' ss Score
7.45
Exon sequences
Seq C1 exon
GCAGCTGGGGGCTGAACGAGGAGGAGCGGCTGATCCGGCACCTGTTTCAAGAGAAGGGCTACAACAAGGAGCTCCGGCCCGTGGCACACAAAGAGGAGAGTGTGGACGTTGCCCTGGCCCTCACACTCTCCAACCTCATCTCCCTG
Seq A exon
AAAGAAGTTGAGGAGACCCTCACTACCAATGTGTGGATAGAGCAC
Seq C2 exon
GGCTGGACAGACAACCGGCTGAAGTGGAATGCTGAAGAATTTGGAAACATCAGTGTCCTGCGCCTCCCCCCGGACATGGTGTGGCTCCCAGAGATTGTGCTGGAGAACAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000135902-'1-2,'1-1,2-2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

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

C1:
PF0293118=Neur_chan_LBD=PU(95.3=83.7),PF0293118=Neur_chan_LBD=PU(2.7=6.1)
A:
PF0293118=Neur_chan_LBD=FE(16.7=100)
C2:
PF0293118=Neur_chan_LBD=PD(0.1=0.0),PF0293118=Neur_chan_LBD=FE(32.7=100)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Chicken
(galGal4)
ALTERNATIVE
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGATCCGGCACCTGTTTCAAG
R:
ATTCCACTTCAGCCGGTTGTC
Band lengths:
146-191
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