Special

HsaEX6020253 @ hg19

Exon Skipping

Gene
Description
cholinergic receptor, nicotinic, epsilon (muscle) [Source:HGNC Symbol;Acc:1966]
Coordinates
chr17:4801069-4802679:-
Coord C1 exon
chr17:4802493-4802679
Coord A exon
chr17:4802296-4802402
Coord C2 exon
chr17:4801069-4802186
Length
107 bp
Sequences
Splice sites
3' ss Seq
CCCGGTGTTTTCCCCGCCAGCTG
3' ss Score
9.23
5' ss Seq
GAGGTGGGA
5' ss Score
4.3
Exon sequences
Seq C1 exon
GTTCTCCTGGAGCTGCTGCCGCGCCTCCTGGGCTCCCCGCCGCCGCCCGAGGCCCCCCGGGCCGCCTCGCCCCCAAGGCGGGCGTCGTCGGTGGGCTTATTGCTCCGCGCGGAGGAGCTGATACTGAAAAAGCCACGGAGCGAGCTCGTGTTTGAGGGGCAGAGGCACCGGCAGGGGACCTGGACGG
Seq A exon
CTGCCTTCTGCCAGAGCCTGGGCGCCGCCGCCCCCGAGGTCCGCTGCTGTGTGGATGCCGTGAACTTCGTGGCCGAGAGCACGAGAGATCAGGAGGCCACCGGCGAG
Seq C2 exon
GAAGTGTCCGACTGGGTGCGCATGGGGAATGCCCTTGACAACATCTGCTTCTGGGCCGCTCTGGTGCTCTTCAGCGTGGGCTCCAGCCTCATCTTCCTCGGGGCCTACTTCAACCGAGTGCCTGATCTCCCCTACGCGCCGTGTATCCAGCCTTAGCTCGCACCGACTTCAATTTCCCACCCATCTCCAGTAGGAAATTGATTTTGAAAAAGTAGGCTGCCGCCACCACGGCATTATGATCCCTTCCCCCTGCTGATCAATCTGCAGTTTGTGAACTTCACAAGAATGGTGTGTGCCCGTTCCCTGGCGTGTGTAGGCCTGGCCGCAGTCCAGGGGTCAGCAGGAGGAAAGGGTTCACATAGGCTCTCAGGTGCCAGTCTTCCAGAAAGCAAGGACTGCCCTTCATTCAGCCTTGCTGACCTCCCAGCCTTTCTAAGGCTCAGCCCCACGGGACTCTGGTGGCTGCCAGCTTGTGAGCTATCTATCTATATTCATTTCAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000108556-'9-10,'9-9,10-10=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (No Ref, Alt. Stop)

No structure available
Features
Disorder rate (Iupred):
  C1=0.175 A=0.056 C2=0.020
Domain overlap (PFAM):

C1:
PF0293211=Neur_chan_memb=FE(27.2=100)
A:
PF0293211=Neur_chan_memb=FE(15.4=100)
C2:
PF0293211=Neur_chan_memb=PD(13.6=59.6)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Primers PCR
Suggestions for RT-PCR validation
F:
TACTGAAAAAGCCACGGAGCG
R:
GGGAAATTGAAGTCGGTGCGA
Band lengths:
244-351
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains