Special

HsaEX6080599 @ hg38

Exon Skipping

Gene
ENSG00000147434 | CHRNA6
Description
cholinergic receptor nicotinic alpha 6 subunit [Source:HGNC Symbol;Acc:HGNC:15963]
Coordinates
chr8:42759069-42768786:-
Coord C1 exon
chr8:42768352-42768786
Coord A exon
chr8:42765065-42765204
Coord C2 exon
chr8:42759069-42759113
Length
140 bp
Sequences
Splice sites
3' ss Seq
CCCTTTGTTTGGCCTCACAGGCT
3' ss Score
9.57
5' ss Seq
GTGGTGAGT
5' ss Score
8.95
Exon sequences
Seq C1 exon
AGAAAGATCTCAGCCACTCACAGGTGTTCATCCTCCCGGGGTCCTGTCTGCCCCAGCATTTCTTTTCTGCTTTTCTTCCCCTTTCTTGCATGAAGAGACATCTAGGCTGTCAGGAAATGTGATGACTCATCTGACATCAGATCGAATCTTTTTTATTCGCCCTTCATGTCTGCCTCAGTCTCTGATCCTGGTAATAACCGTGTGAAGTCCCGGGGATGTTTTGATTTCTGAGAAGACACACACGGATTGCAGTGGGCTTCTGATGATGTCAAGGTTGGATGCATGTGGCTGACTGATAGCTCTTTGTTTTCCACAATCCTTTGCCTAGGAAAAAGGAATCCAAGTGTGTTTTAACCATGCTGACCAGCAAGGGGCAGGGATTCCTTCATGGGGGCTTGTGTCTCTGGCTGTGTGTGTTCACACCTTTCTTTAAAG
Seq A exon
GCTGTGTGGGCTGTGCAACTGAGGAGAGGCTCTTCCACAAACTGTTTTCTCATTACAACCAGTTCATCAGGCCTGTGGAAAACGTTTCCGACCCTGTCACGGTACACTTTGAAGTGGCCATCACCCAGCTGGCCAACGTG
Seq C2 exon
GATGAAGTAAACCAGATCATGGAAACCAATTTGTGGCTGCGTCAC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000147434-'1-7,'1-4,2-7=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=0.000 C2=0.000
Domain overlap (PFAM):

C1:
NO
A:
PF0293118=Neur_chan_LBD=PU(18.8=83.0)
C2:
PF0293118=Neur_chan_LBD=PU(7.2=88.9)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGACACACACGGATTGCAGTG
R:
GTGACGCAGCCACAAATTG
Band lengths:
247-387
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains