HsaEX6019175 @ hg38
Exon Skipping
Gene
ENSG00000196811 | CHRNG
Description
cholinergic receptor nicotinic gamma subunit [Source:HGNC Symbol;Acc:HGNC:1967]
Coordinates
chr2:232544367-232546403:+
Coord C1 exon
chr2:232544367-232544580
Coord A exon
chr2:232544772-232544902
Coord C2 exon
chr2:232545543-232546403
Length
131 bp
Sequences
Splice sites
3' ss Seq
TTACCCTTTCTCTTTATCAGAGA
3' ss Score
9.97
5' ss Seq
AATGTAAGC
5' ss Score
6.12
Exon sequences
Seq C1 exon
GTGTTCCTGAGGCTCTTGCCCCAGCTGCTGAGGATGCACGTTCGCCCGCTGGCCCCGGCAGCTGTGCAGGACACCCAGTCCCGGCTACAGAATGGCTCCTCGGGATGGTCGATCACAACTGGGGAGGAGGTGGCCCTCTGCCTGCCTCGCAGTGAACTCCTCTTCCAGCAGTGGCAGCGGCAAGGGCTGGTGGCGGCAGCGCTGGAGAAGCTAG
Seq A exon
AGAAAGGCCCGGAGTTAGGGCTGAGCCAGTTCTGTGGCAGCCTGAAGCAGGCTGCCCCAGCCATCCAGGCCTGTGTGGAAGCCTGCAACCTCATTGCCTGTGCCCGGCACCAGCAGAGTCACTTTGACAAT
Seq C2 exon
GGGAATGAGGAGTGGTTCCTGGTGGGCCGAGTGCTGGACCGCGTCTGCTTCCTGGCCATGCTCTCGCTCTTCATCTGTGGCACAGCTGGCATCTTCCTCATGGCCCACTACAACCGGGTGCCGGCCCTGCCATTCCCTGGAGATCCACGCCCCTACCTGCCCTCACCAGACTGAGCCAACCAACCACTGTGGGGCATGTGGGAGTCACACACGTGGGTCACACTGAGTCTTATCAGCCACGTTCTCCTACTGAGGTCCTAAGTGTGCTCTTTGGGAAGTGCCCTTCAGGACTGTGTGAGCCAAACAGCCCTGAGAAAAGCTGGGGAAACAGTCTGAGCTGGAGTCCGAGAGTGGTTGGGGGTGGGCCGTGGCTAGTGTCCTGCTGCAGTCAGCACACACGTGGGATTGGCTAGCTCATCCTGGCACCAGCCACCCCTCCACTCAGTGCACTCCCCTCACTTAGGCAAAGCATTATTCATTCCCATCAGTCTGAAGCCCGA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000196811_CASSETTE2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref, Alt. Stop)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.053
Domain overlap (PFAM):
C1:
PF0293211=Neur_chan_memb=FE(29.0=100)
A:
PF0293211=Neur_chan_memb=FE(17.6=100)
C2:
PF0293211=Neur_chan_memb=PD(12.7=53.4)
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:
GCAGTGAACTCCTCTTCCAGC
R:
GTTGGTTGGCTCAGTCTGGTG
Band lengths:
250-381
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains