HsaEX6080107 @ hg38
Exon Skipping
Gene
ENSG00000120903 | CHRNA2
Description
cholinergic receptor nicotinic alpha 2 subunit [Source:HGNC Symbol;Acc:HGNC:1956]
Coordinates
chr8:27467229-27469981:-
Coord C1 exon
chr8:27469761-27469981
Coord A exon
chr8:27469335-27469379
Coord C2 exon
chr8:27467229-27467338
Length
45 bp
Sequences
Splice sites
3' ss Seq
TCTGTCTCTCTCTGGGCCAGGAT
3' ss Score
8.87
5' ss Seq
CAGGTGAGG
5' ss Score
10.07
Exon sequences
Seq C1 exon
GTGGAGAGGAAGCTAAGCGCCCACCTCCCAGGGCTCCTGGAGACCCACTCTCCTCTCCCAGTCCCACGGCATTGCCGCAGGGAGGCTCGCATACCGAGACTGAGGACCGGCTCTTCAAACACCTCTTCCGGGGCTACAACCGCTGGGCGCGCCCGGTGCCCAACACTTCAGACGTGGTGATTGTGCGCTTTGGACTGTCCATCGCTCAGCTCATCGATGTG
Seq A exon
GATGAGAAGAACCAAATGATGACCACCAACGTCTGGCTAAAACAG
Seq C2 exon
GAGTGGAGCGACTACAAACTGCGCTGGAACCCCACTGATTTTGGCAACATCACATCTCTCAGGGTCCCTTCTGAGATGATCTGGATCCCCGACATTGTTCTCTACAACAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000120903-'12-21,'12-19,15-21=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.449 A=0.095 C2=0.000
Domain overlap (PFAM):
C1:
PF0315410=Atrophin-1=PD(93.4=77.0),PF0293118=Neur_chan_LBD=PU(40.6=52.7)
A:
PF0293118=Neur_chan_LBD=FE(14.6=100)
C2:
PF0293118=Neur_chan_LBD=FE(18.8=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTTCAAACACCTCTTCCGGGG
R:
GGTTCCAGCGCAGTTTGTAGT
Band lengths:
140-185
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains