HsaEX6080107 @ hg19
Exon Skipping
Gene
ENSG00000120903 | CHRNA2
Description
cholinergic receptor, nicotinic, alpha 2 (neuronal) [Source:HGNC Symbol;Acc:1956]
Coordinates
chr8:27324746-27327498:-
Coord C1 exon
chr8:27327278-27327498
Coord A exon
chr8:27326852-27326896
Coord C2 exon
chr8:27324746-27324855
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-'10-17,'10-15,12-17=AN
Average complexity
A_C1
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.429 A=0.095 C2=0.000
Domain overlap (PFAM):
C1:
PF0315410=Atrophin-1=PD(93.2=74.3),PF0293118=Neur_chan_LBD=PU(18.8=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
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)