Special

HsaEX6080108 @ hg19

Exon Skipping

Gene
ENSG00000120903 | CHRNA2
Description
cholinergic receptor, nicotinic, alpha 2 (neuronal) [Source:HGNC Symbol;Acc:1956]
Coordinates
chr8:27320496-27326896:-
Coord C1 exon
chr8:27326852-27326896
Coord A exon
chr8:27324746-27324855
Coord C2 exon
chr8:27320496-27321510
Length
110 bp
Sequences
Splice sites
3' ss Seq
AACTCCTTCCCCACACACAGGAG
3' ss Score
5.82
5' ss Seq
CAAGTAGGA
5' ss Score
4.46
Exon sequences
Seq C1 exon
GATGAGAAGAACCAAATGATGACCACCAACGTCTGGCTAAAACAG
Seq A exon
GAGTGGAGCGACTACAAACTGCGCTGGAACCCCACTGATTTTGGCAACATCACATCTCTCAGGGTCCCTTCTGAGATGATCTGGATCCCCGACATTGTTCTCTACAACAA
Seq C2 exon
TGCAGATGGGGAGTTTGCAGTGACCCACATGACCAAGGCCCACCTCTTCTCCACGGGCACTGTGCACTGGGTGCCCCCGGCCATCTACAAGAGCTCCTGCAGCATCGACGTCACCTTCTTCCCCTTCGACCAGCAGAACTGCAAGATGAAGTTTGGCTCCTGGACTTATGACAAGGCCAAGATCGACCTGGAGCAGATGGAGCAGACTGTGGACCTGAAGGACTACTGGGAGAGCGGCGAGTGGGCCATCGTCAATGCCACGGGCACCTACAACAGCAAGAAGTACGACTGCTGCGCCGAGATCTACCCCGACGTCACCTACGCCTTCGTCATCCGGCGGCTGCCGCTCTTCTACACCATCAACCTCATCATCCCCTGCCTGCTCATCTCCTGCCTCACTGTGCTGGTCTTCTACCTGCCCTCCGACTGCGGCGAGAAGATCACGCTGTGCATTTCGGTGCTGCTGTCACTCACCGTCTTCCTGCTGCTCATCACTGAGA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000120903-'12-18,'12-17,13-18=AN
Average complexity
A_C2
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.095 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF0293118=Neur_chan_LBD=FE(14.6=100)
A:
PF0293118=Neur_chan_LBD=FE(18.8=100)
C2:
PF0293118=Neur_chan_LBD=PD(59.9=33.9),PF103294=DUF2417=WD(100=49.6),PF0293211=Neur_chan_memb=PU(86.7=63.7)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
ACCAAATGATGACCACCAACGT
R:
CACAGTCTGCTCCATCTGCTC
Band lengths:
246-356
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains