HsaEX6019176 @ hg19
Exon Skipping
Gene
ENSG00000196811 | CHRNG
Description
cholinergic receptor, nicotinic, gamma (muscle) [Source:HGNC Symbol;Acc:1967]
Coordinates
chr2:233408295-233409612:+
Coord C1 exon
chr2:233408295-233408409
Coord A exon
chr2:233409077-233409290
Coord C2 exon
chr2:233409482-233409612
Length
214 bp
Sequences
Splice sites
3' ss Seq
TGAAGCCACCCCCTCTCTAGGTG
3' ss Score
7.86
5' ss Seq
TAGGTGAGA
5' ss Score
6.95
Exon sequences
Seq C1 exon
GTACCTGACCTTCCTCCTGGTGGTGACCATCCTCATTGTCGTGAATGCTGTGGTTGTGCTCAATGTCTCCTTGCGGTCTCCACACACACACTCCATGGCCCGAGGGGTCCGCAAG
Seq A exon
GTGTTCCTGAGGCTCTTGCCCCAGCTGCTGAGGATGCACGTTCGCCCGCTGGCCCCGGCAGCTGTGCAGGACACCCAGTCCCGGCTACAGAATGGCTCCTCGGGATGGTCGATCACAACTGGGGAGGAGGTGGCCCTCTGCCTGCCTCGCAGTGAACTCCTCTTCCAGCAGTGGCAGCGGCAAGGGCTGGTGGCGGCAGCGCTGGAGAAGCTAG
Seq C2 exon
AGAAAGGCCCGGAGTTAGGGCTGAGCCAGTTCTGTGGCAGCCTGAAGCAGGCTGCCCCAGCCATCCAGGCCTGTGTGGAAGCCTGCAACCTCATTGCCTGTGCCCGGCACCAGCAGAGTCACTTTGACAAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000196811-'9-9,'9-8,10-9=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:
PF0293211=Neur_chan_memb=FE(15.5=100)
A:
PF0293211=Neur_chan_memb=FE(29.0=100)
C2:
PF0293211=Neur_chan_memb=FE(17.6=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTACCTGACCTTCCTCCTGGT
R:
TCAAAGTGACTCTGCTGGTGC
Band lengths:
242-456
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)