HsaEX6080105 @ hg38
Exon Skipping
Gene
ENSG00000120903 | CHRNA2
Description
cholinergic receptor nicotinic alpha 2 subunit [Source:HGNC Symbol;Acc:HGNC:1956]
Coordinates
chr8:27469761-27479296:-
Coord C1 exon
chr8:27478824-27479296
Coord A exon
chr8:27470986-27471194
Coord C2 exon
chr8:27469761-27469981
Length
209 bp
Sequences
Splice sites
3' ss Seq
CCTTTCTTGGGCTTGCTCAGGTT
3' ss Score
6.75
5' ss Seq
CAGGTGAGT
5' ss Score
10.67
Exon sequences
Seq C1 exon
AGAGAGGCTGTGTGTGTGTGTGTGTGTGTGTATGTGTGTGTGTGTGTGAGAGAGAGAGAGAACAGCGTGAGCCTGTGTGCTTGTGTGCTGAGCCCTCATCCCCTCCTGGGGCCAGGCTTGGGTTTCACCTGCAGAATCGCTTGTGCTGGGCTGCCTGGGCTGTCCTCAGTGGCACCTGCATGAAGCCGTTCTGGCTGCCAGAGCTGGACAGCCCCAGGAAAACCCACCTCTCTGCAGAGCTTGCCCAGCTGTCCCCGGGAAGCCAAATGCCTCTCATGTAAGTCTTCTGCTCGACGGGGTGTCTCCTAAACCCTCACTCTTCAGCCTCTGTTTGACCATGAAATGAAGTGACTGAGCTCTATTCTGTACCTGCCACTCTATTTCTGGGGTGACTTTTGTCAGCTGCCCAGAATCTCCAAGCCAGGCTGGTTCTCTGCATCCTTTCAATGACCTGTTTTCTTCTGTAACCACAG
Seq A exon
GTTCGGTGGTGAGAGGAAGCCTCGCAGAATCCAGCAGAATCCTCACAGAATCCAGCAGCAGCTCTGCTGGGGACATGGTCCATGGTGCAACCCACAGCAAAGCCCTGACCTGACCTCCTGATGCTCAGGAGAAGCCATGGGCCCCTCCTGTCCTGTGTTCCTGTCCTTCACAAAGCTCAGCCTGTGGTGGCTCCTTCTGACCCCAGCAG
Seq C2 exon
GTGGAGAGGAAGCTAAGCGCCCACCTCCCAGGGCTCCTGGAGACCCACTCTCCTCTCCCAGTCCCACGGCATTGCCGCAGGGAGGCTCGCATACCGAGACTGAGGACCGGCTCTTCAAACACCTCTTCCGGGGCTACAACCGCTGGGCGCGCCCGGTGCCCAACACTTCAGACGTGGTGATTGTGCGCTTTGGACTGTCCATCGCTCAGCTCATCGATGTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000120903-'2-17,'2-15,8-17
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref, Alt. ATG (>10 exons))
No structure available
Features
Disorder rate (Iupred):
C1=NA A=0.000 C2=0.449
Domain overlap (PFAM):
C1:
NA
A:
PF0315410=Atrophin-1=PU(5.4=12.0)
C2:
PF0315410=Atrophin-1=PD(93.4=77.0),PF0293118=Neur_chan_LBD=PU(40.6=52.7)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Chicken
(galGal3)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGGGTGTCTCCTAAACCCTCA
R:
GTTTGAAGAGCCGGTCCTCAG
Band lengths:
298-507
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains