Special

HsaEX6019173 @ hg19

Exon Skipping

Gene
Description
cholinergic receptor, nicotinic, delta (muscle) [Source:HGNC Symbol;Acc:1965]
Coordinates
chr2:233392972-233393623:+
Coord C1 exon
chr2:233392972-233393081
Coord A exon
chr2:233393211-233393366
Coord C2 exon
chr2:233393572-233393623
Length
156 bp
Sequences
Splice sites
3' ss Seq
TTCTTGTCCCTGTCCCCCAGCAA
3' ss Score
8
5' ss Seq
CAGGTGTGC
5' ss Score
6.46
Exon sequences
Seq C1 exon
GGCTGGACAGACAACCGGCTGAAGTGGAATGCTGAAGAATTTGGAAACATCAGTGTCCTGCGCCTCCCCCCGGACATGGTGTGGCTCCCAGAGATTGTGCTGGAGAACAA
Seq A exon
CAATGACGGCTCCTTCCAGATCTCCTACTCCTGCAACGTGCTTGTCTACCACTACGGCTTCGTGTACTGGCTGCCACCTGCCATCTTCCGCTCCTCCTGCCCCATCTCTGTCACCTATTTCCCCTTCGACTGGCAGAACTGCTCCCTCAAGTTCAG
Seq C2 exon
TTCCCTCAAGTATACGGCCAAAGAGATCACCCTGAGCCTGAAACAGGATGCC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000135902-'4-4,'4-3,5-4=AN
Average complexity
A_C1
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.075 C2=0.000
Domain overlap (PFAM):

C1:
PF0293118=Neur_chan_LBD=PD(0.1=0.0),PF0293118=Neur_chan_LBD=FE(32.7=100)
A:
PF0293118=Neur_chan_LBD=FE(23.4=100)
C2:
PF0293118=Neur_chan_LBD=FE(16.7=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGGACAGACAACCGGCTGAAG
R:
CCTGTTTCAGGCTCAGGGTGA
Band lengths:
154-310
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains