HsaEX6020253 @ hg38
Exon Skipping
Gene
ENSG00000108556 | CHRNE
Description
cholinergic receptor nicotinic epsilon subunit [Source:HGNC Symbol;Acc:HGNC:1966]
Coordinates
chr17:4897774-4899384:-
Coord C1 exon
chr17:4899198-4899384
Coord A exon
chr17:4899001-4899107
Coord C2 exon
chr17:4897774-4898891
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-'17-13,'17-12,18-13=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 Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
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