Special

HsaEX6019182 @ hg38

Exon Skipping

Gene
Description
cholinergic receptor nicotinic gamma subunit [Source:HGNC Symbol;Acc:HGNC:1967]
Coordinates
chr2:232540381-232541882:+
Coord C1 exon
chr2:232540381-232540425
Coord A exon
chr2:232540602-232540711
Coord C2 exon
chr2:232541374-232541882
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
Rat
(rn6)
No conservation detected
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
No conservation detected
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