HsaEX6016806 @ hg38
Exon Skipping
Gene
ENSG00000138435 | CHRNA1
Description
cholinergic receptor nicotinic alpha 1 subunit [Source:HGNC Symbol;Acc:HGNC:1955]
Coordinates
chr2:174757566-174759633:-
Coord C1 exon
chr2:174759488-174759633
Coord A exon
chr2:174759331-174759375
Coord C2 exon
chr2:174757566-174757675
Length
45 bp
Sequences
Splice sites
3' ss Seq
ATCCTTATTTTTTTTTCCAGGAT
3' ss Score
10.14
5' ss Seq
CAGGTAACT
5' ss Score
8.63
Exon sequences
Seq C1 exon
CTGGCCTCGTCCTGGGCTCCGAACATGAGACCCGTCTGGTGGCAAAGCTATTTAAAGACTACAGCAGCGTGGTGCGGCCAGTGGAAGACCACCGCCAGGTCGTGGAGGTCACCGTGGGCCTGCAGCTGATACAGCTCATCAATGTG
Seq A exon
GATGAAGTAAATCAGATCGTGACAACCAATGTGCGTCTGAAACAG
Seq C2 exon
CAATGGGTGGATTACAACCTAAAATGGAATCCAGATGACTATGGCGGTGTGAAAAAAATTCACATTCCTTCAGAAAAGATCTGGCGCCCAGACCTTGTTCTCTATAACAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000138435-'7-12,'7-10,8-12=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=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0293118=Neur_chan_LBD=PU(69.6=79.6)
A:
PF0293118=Neur_chan_LBD=FE(25.0=100),PF0293118=Neur_chan_LBD=PU(1.4=6.7)
C2:
PF0293118=Neur_chan_LBD=FE(22.5=100)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TAAAGACTACAGCAGCGTGGT
R:
ACACCGCCATAGTCATCTGGA
Band lengths:
144-189
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains