HsaEX6019181 @ hg19
Exon Skipping
Gene
ENSG00000196811 | CHRNG
Description
cholinergic receptor, nicotinic, gamma (muscle) [Source:HGNC Symbol;Acc:1967]
Coordinates
chr2:233405312-233407230:+
Coord C1 exon
chr2:233405312-233405421
Coord A exon
chr2:233406084-233406239
Coord C2 exon
chr2:233407133-233407230
Length
156 bp
Sequences
Splice sites
3' ss Seq
GGCCTGTTCTGTGCATACAGCGT
3' ss Score
6.17
5' ss Seq
CCAGTGAGG
5' ss Score
4.09
Exon sequences
Seq C1 exon
CAGTGGTGCGACTATCGCCTGCGCTGGGATCCGCGAGACTACGAAGGCCTGTGGGTGCTGAGGGTGCCGTCCACCATGGTGTGGCGGCCGGATATCGTGCTGGAGAACAA
Seq A exon
CGTGGACGGTGTCTTCGAGGTGGCCCTCTACTGCAATGTGCTCGTGTCCCCTGACGGCTGTATCTACTGGCTGCCGCCTGCCATCTTCCGTTCCGCCTGCTCTATCTCAGTCACCTACTTCCCCTTCGACTGGCAGAACTGCTCCCTTATCTTCCA
Seq C2 exon
GTCCCAGACTTACAGCACCAATGAGATTGATCTGCAGCTGAGTCAGGAAGATGGCCAGACCATCGAGTGGATTTTCATTGACCCTGAGGCCTTCACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000196811-'3-4,'3-3,4-4=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.015
Domain overlap (PFAM):
C1:
PF0293118=Neur_chan_LBD=FE(37.9=100),PF0293118=Neur_chan_LBD=PU(0.1=0.0)
A:
PF0293118=Neur_chan_LBD=FE(24.1=100)
C2:
PF0293118=Neur_chan_LBD=PD(3.2=8.8),PF0293118=Neur_chan_LBD=PU(45.2=97.1)
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CGACTATCGCCTGCGCTG
R:
GTGAAGGCCTCAGGGTCAATG
Band lengths:
198-354
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)