HsaEX6019171 @ hg19
Exon Skipping
Gene
ENSG00000135902 | CHRND
Description
cholinergic receptor, nicotinic, delta (muscle) [Source:HGNC Symbol;Acc:1965]
Coordinates
chr2:233396062-233398845:+
Coord C1 exon
chr2:233396062-233396173
Coord A exon
chr2:233396252-233396366
Coord C2 exon
chr2:233398641-233398845
Length
115 bp
Sequences
Splice sites
3' ss Seq
AGCTGAGTGTTTGCCCACAGGTT
3' ss Score
7.55
5' ss Seq
AAGGTGAGT
5' ss Score
10.47
Exon sequences
Seq C1 exon
GTGGTGAGAAGACATCAGTGGCCATCTCGGTGCTCCTGGCTCAGTCTGTCTTCCTGCTGCTCATCTCCAAGCGTCTGCCTGCCACATCCATGGCCATCCCCCTTATCGGCAA
Seq A exon
GTTCCTGCTCTTCGGCATGGTGCTGGTCACCATGGTTGTGGTGATCTGTGTCATCGTGCTCAACATCCACTTCCGAACACCCAGCACCCATGTGCTGTCTGAGGGGGTCAAGAAG
Seq C2 exon
CTCTTCCTGGAGACCCTGCCGGAGCTCCTGCACATGTCCCGCCCAGCAGAGGATGGACCCAGCCCTGGGGCCCTGGTGCGGAGGAGCAGCTCCCTGGGATACATCTCCAAGGCCGAGGAGTACTTCCTGCTCAAGTCCCGCAGTGACCTCATGTTCGAGAAGCAGTCAGAGCGGCATGGGCTGGCCAGGCGCCTCACCACTGCAC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000135902-'9-8,'9-7,11-8=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=0.013 A=0.000 C2=0.217
Domain overlap (PFAM):
C1:
PF0293211=Neur_chan_memb=FE(16.7=100),PF0000317=7tm_3=PU(44.4=94.7)
A:
PF0293211=Neur_chan_memb=FE(17.2=100),PF0000317=7tm_3=FE(46.9=100)
C2:
PF0293211=Neur_chan_memb=FE(30.8=100),PF0000317=7tm_3=PD(6.2=7.2)
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:
AGTCTGTCTTCCTGCTGCTCA
R:
CGCTCTGACTGCTTCTCGAAC
Band lengths:
243-358
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)