HsaEX6080106 @ hg19
Exon Skipping
Gene
ENSG00000120903 | CHRNA2
Description
cholinergic receptor, nicotinic, alpha 2 (neuronal) [Source:HGNC Symbol;Acc:1956]
Coordinates
chr8:27326852-27328711:-
Coord C1 exon
chr8:27328503-27328711
Coord A exon
chr8:27327278-27327498
Coord C2 exon
chr8:27326852-27326896
Length
221 bp
Sequences
Splice sites
3' ss Seq
TGGCTCTGATTTGATGGCAGGTG
3' ss Score
5.64
5' ss Seq
GTGGTGCGC
5' ss Score
4.59
Exon sequences
Seq C1 exon
GTTCGGTGGTGAGAGGAAGCCTCGCAGAATCCAGCAGAATCCTCACAGAATCCAGCAGCAGCTCTGCTGGGGACATGGTCCATGGTGCAACCCACAGCAAAGCCCTGACCTGACCTCCTGATGCTCAGGAGAAGCCATGGGCCCCTCCTGTCCTGTGTTCCTGTCCTTCACAAAGCTCAGCCTGTGGTGGCTCCTTCTGACCCCAGCAG
Seq A exon
GTGGAGAGGAAGCTAAGCGCCCACCTCCCAGGGCTCCTGGAGACCCACTCTCCTCTCCCAGTCCCACGGCATTGCCGCAGGGAGGCTCGCATACCGAGACTGAGGACCGGCTCTTCAAACACCTCTTCCGGGGCTACAACCGCTGGGCGCGCCCGGTGCCCAACACTTCAGACGTGGTGATTGTGCGCTTTGGACTGTCCATCGCTCAGCTCATCGATGTG
Seq C2 exon
GATGAGAAGAACCAAATGATGACCACCAACGTCTGGCTAAAACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000120903-'5-15,'5-13,10-15=AN
Average complexity
A_C1
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.429 C2=0.095
Domain overlap (PFAM):
C1:
PF0315410=Atrophin-1=PU(5.4=12.0)
A:
PF0315410=Atrophin-1=PD(93.2=74.3),PF0293118=Neur_chan_LBD=PU(18.8=52.7)
C2:
PF0293118=Neur_chan_LBD=FE(14.6=100)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTTCGGTGGTGAGAGGAAGC
R:
CCAGACGTTGGTGGTCATCAT
Band lengths:
245-466
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)