Special

HsaEX6019182 @ hg19

Exon Skipping

Gene
Description
cholinergic receptor, nicotinic, gamma (muscle) [Source:HGNC Symbol;Acc:1967]
Coordinates
chr2:233405091-233406592:+
Coord C1 exon
chr2:233405091-233405135
Coord A exon
chr2:233405312-233405421
Coord C2 exon
chr2:233406084-233406592
Length
110 bp
Sequences
Splice sites
3' ss Seq
AACTGCCCCTCCCCCTGCAGCAG
3' ss Score
9.65
5' ss Seq
CAAGTGAGG
5' ss Score
5.85
Exon sequences
Seq C1 exon
AACGAGCGAGAGGAAGCCCTCACCACCAATGTCTGGATAGAGATG
Seq A exon
CAGTGGTGCGACTATCGCCTGCGCTGGGATCCGCGAGACTACGAAGGCCTGTGGGTGCTGAGGGTGCCGTCCACCATGGTGTGGCGGCCGGATATCGTGCTGGAGAACAA
Seq C2 exon
CGTGGACGGTGTCTTCGAGGTGGCCCTCTACTGCAATGTGCTCGTGTCCCCTGACGGCTGTATCTACTGGCTGCCGCCTGCCATCTTCCGTTCCGCCTGCTCTATCTCAGTCACCTACTTCCCCTTCGACTGGCAGAACTGCTCCCTTATCTTCCAGTGAGGCCATTTATTGGGGAGGATTAAGAGAGCTGCTCTCAGAGGGGCCTGGGCAGTGGTGGGGTAAGGCCTGGGCAAGGCTTCTGGCCTTGGCTCTGGCAGCACCTAGAGGCCTGGCTCCATCTCCCCTGGGCCTCTGTGCCCATCTCAGGCTAAGACACCTGAAGGTGCCCAAGCTCTCCCTGCTAAGCCCGAGTCCCCTCACTCATCCTTTACTGCCTCAGTTTCCTCACCTGTGCTCCAAGGGGAGACATTCACGCCTGGGGTGCGTGGGTGAGAAGGCACACATGCACACAAGATGCGTGTCTGCGCACACACGAAACCACTGCACACTCCAGGCCCAC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000196811-'2-3,'2-2,3-3=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:
PF0293118=Neur_chan_LBD=FE(14.7=100)
A:
PF0293118=Neur_chan_LBD=FE(37.9=100),PF0293118=Neur_chan_LBD=PU(0.1=0.0)
C2:
PF0293118=Neur_chan_LBD=FE(24.1=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAAGCCCTCACCACCAATGTC
R:
CTTACCCCACCACTGCCCAG
Band lengths:
257-367
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains