Special

HsaEX6020250 @ hg19

Exon Skipping

Gene
Description
cholinergic receptor, nicotinic, epsilon (muscle) [Source:HGNC Symbol;Acc:1966]
Coordinates
chr17:4804820-4805621:-
Coord C1 exon
chr17:4805512-4805621
Coord A exon
chr17:4805227-4805382
Coord C2 exon
chr17:4804820-4804920
Length
156 bp
Sequences
Splice sites
3' ss Seq
CGGTTTCCCCGAGCCCACAGTAT
3' ss Score
0.5
5' ss Seq
CCGGTGGGA
5' ss Score
5.27
Exon sequences
Seq C1 exon
GATTGGCAGGATTACCGACTCAACTACAGCAAGGACGACTTTGGGGGTATAGAAACCCTGCGAGTCCCTTCAGAACTCGTGTGGCTGCCAGAGATTGTGCTGGAAAACAA
Seq A exon
TATTGATGGCCAGTTCGGAGTGGCCTACGACGCCAACGTGCTCGTCTACGAGGGCGGCTCCGTGACGTGGCTGCCTCCGGCCATCTACCGCAGCGTCTGCGCAGTGGAGGTCACCTACTTCCCCTTCGATTGGCAGAACTGTTCGCTTATTTTCCG
Seq C2 exon
CTCTCAGACGTACAATGCCGAAGAGGTGGAGTTCACTTTTGCCGTAGACAACGACGGCAAGACCATCAACAAGATCGACATCGACACAGAGGCCTATACTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000108556-'3-4,'3-3,4-4=AN
Average complexity
A_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=FE(16.6=100)
A:
PF0293118=Neur_chan_LBD=FE(24.0=100)
C2:
PF0293118=Neur_chan_LBD=FE(15.7=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ATTGGCAGGATTACCGACTCA
R:
CAGTATAGGCCTCTGTGTCGA
Band lengths:
210-366
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains