Special

HsaEX6019184 @ hg19

Exon Skipping

Gene
Description
cholinergic receptor, nicotinic, gamma (muscle) [Source:HGNC Symbol;Acc:1967]
Coordinates
chr2:233404437-233405135:+
Coord C1 exon
chr2:233404437-233404512
Coord A exon
chr2:233404702-233404841
Coord C2 exon
chr2:233405091-233405135
Length
140 bp
Sequences
Splice sites
3' ss Seq
CTCACGCCTGTCTATTGCAGGGG
3' ss Score
9.67
5' ss Seq
CTGGTAAGC
5' ss Score
8.69
Exon sequences
Seq C1 exon
ACTGCAGAGAGCTGAGGCACCATGCATGGGGGCCAGGGGCCGCTGCTCCTCCTGCTGCTGCTGGCTGTCTGCCTGG
Seq A exon
GGGCCCAGGGCCGGAACCAGGAGGAGCGCCTGCTCGCAGACCTGATGCAAAACTACGACCCCAACCTGCGGCCCGCGGAACGAGACTCGGATGTGGTCAATGTCAGCCTGAAGCTAACCCTCACCAACCTCATCTCCCTG
Seq C2 exon
AACGAGCGAGAGGAAGCCCTCACCACCAATGTCTGGATAGAGATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000196811-'0-1,'0-0,1-1=AN
Average complexity
A_S
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(18.1=83.0)
C2:
PF0293118=Neur_chan_LBD=FE(14.7=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CAGAGAGCTGAGGCACCATG
R:
AGACATTGGTGGTGAGGGCTT
Band lengths:
106-246
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains