HsaEX6019178 @ hg38
Exon Skipping
Gene
ENSG00000196811 | CHRNG
Description
cholinergic receptor nicotinic gamma subunit [Source:HGNC Symbol;Acc:HGNC:1967]
Coordinates
chr2:232542882-232543699:+
Coord C1 exon
chr2:232542882-232543082
Coord A exon
chr2:232543275-232543389
Coord C2 exon
chr2:232543585-232543699
Length
115 bp
Sequences
Splice sites
3' ss Seq
AGCCTCTCGGTCATGGATAGCTG
3' ss Score
2.21
5' ss Seq
CAAGTAAGG
5' ss Score
7.66
Exon sequences
Seq C1 exon
AGAATGGGGAGTGGGCCATCCAGCACCGACCAGCCAAGATGCTCCTGGACCCAGCGGCGCCAGCCCAGGAAGCAGGCCACCAGAAGGTGGTGTTCTACCTGCTCATCCAGCGCAAGCCCCTCTTCTACGTCATCAACATCATCGCCCCCTGTGTGCTCATCTCCTCTGTCGCCATCCTCATCCACTTCCTTCCTGCCAAGG
Seq A exon
CTGGGGGCCAGAAGTGTACCGTCGCCATCAACGTGCTCCTGGCCCAGACTGTCTTCCTCTTCCTTGTGGCCAAGAAGGTGCCTGAAACCTCCCAGGCGGTGCCACTCATCAGCAA
Seq C2 exon
GTACCTGACCTTCCTCCTGGTGGTGACCATCCTCATTGTCGTGAATGCTGTGGTTGTGCTCAATGTCTCCTTGCGGTCTCCACACACACACTCCATGGCCCGAGGGGTCCGCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000196811-'7-8,'7-6,8-8=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=PD(53.4=57.4),PF0293211=Neur_chan_memb=PU(8.6=30.9)
A:
PF0293211=Neur_chan_memb=FE(15.5=100)
C2:
PF0293211=Neur_chan_memb=FE(15.5=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CAGCCAAGATGCTCCTGGAC
R:
CGCAAGGAGACATTGAGCACA
Band lengths:
246-361
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains