Special

HsaEX0015311 @ hg19

Exon Skipping

Gene
ENSG00000169684 | CHRNA5
Description
cholinergic receptor, nicotinic, alpha 5 (neuronal) [Source:HGNC Symbol;Acc:1959]
Coordinates
chr15:78878987-78882978:+
Coord C1 exon
chr15:78878987-78879031
Coord A exon
chr15:78880656-78880765
Coord C2 exon
chr15:78882147-78882978
Length
110 bp
Sequences
Splice sites
3' ss Seq
CAGATTTCTTTGTTTTAAAGGAA
3' ss Score
6.91
5' ss Seq
TAAGTAAGT
5' ss Score
8.07
Exon sequences
Seq C1 exon
GATGAGAAAAATCAGTTAATGACAACAAACGTCTGGTTGAAACAG
Seq A exon
GAATGGATAGATGTAAAATTAAGATGGAACCCTGATGACTATGGTGGAATAAAAGTTATACGTGTTCCTTCAGACTCTGTCTGGACACCAGACATCGTTTTGTTTGATAA
Seq C2 exon
TGCAGATGGACGTTTTGAAGGGACCAGTACGAAAACAGTCATCAGGTACAATGGCACTGTCACCTGGACTCCACCGGCAAACTACAAAAGTTCCTGTACCATAGATGTCACGTTTTTCCCATTTGACCTTCAGAACTGTTCCATGAAATTTGGTTCTTGGACTTATGATGGATCACAGGTTGATATAATTCTAGAGGACCAAGATGTAGACAAGAGAGATTTTTTTGATAATGGAGAATGGGAGATTGTGAGTGCAACAGGGAGCAAAGGAAACAGAACCGACAGCTGTTGCTGGTATCCGTATGTCACTTACTCATTTGTAATCAAGCGCCTGCCTCTCTTTTATACCTTGTTCCTTATAATACCCTGTATTGGGCTCTCATTTTTAACTGTACTTGTCTTCTATCTTCCTTCAAATGAAGGTGAAAAGATTTGTCTCTGCACTTCAGTACTTGTGTCTTTGACTGTCTTCCTTCTGGTTATTGAAGAGATCATACCAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000169684-'4-6,'4-5,5-6
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (No Ref, Alt. Stop)

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.000 C2=0.016
Domain overlap (PFAM):

C1:
PF0293118=Neur_chan_LBD=FE(12.4=100)
A:
PF0293118=Neur_chan_LBD=FE(17.6=100)
C2:
PF0293118=Neur_chan_LBD=PD(54.9=40.3),PF0293211=Neur_chan_memb=WD(100=46.0),PF0293211=Neur_chan_memb=PU(58.2=16.5)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGACAACAAACGTCTGGTTGA
R:
TCTCTTGTCTACATCTTGGTCCTCT
Band lengths:
243-353
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development