HsaEX6016011 @ hg19
Exon Skipping
Gene
ENSG00000183091 | NEB
Description
nebulin [Source:HGNC Symbol;Acc:7720]
Coordinates
chr2:152359863-152362772:-
Coord C1 exon
chr2:152362680-152362772
Coord A exon
chr2:152361992-152362084
Coord C2 exon
chr2:152359863-152359955
Length
93 bp
Sequences
Splice sites
3' ss Seq
TCCCATTTTTAAATCTGCAGGTG
3' ss Score
9.81
5' ss Seq
TCGGTAGTG
5' ss Score
1.01
Exon sequences
Seq C1 exon
GTTTTATATAAAGAGGATGTCTCACCAGGAACGGCTATCGGAAAGACACCTGAGATGATGAGAGTGAAACAAACACAGGACCACATTAGCTCG
Seq A exon
GTGAAGTATAAGGAAGCAATAGGACAAGGAACTCCAATCCCTGACCTGCCTGAAGTGAAACGTGTGAAGGAGACGCAGAAGCACATTAGCTCG
Seq C2 exon
GTTATGTACAAAGAAAACTTGGGAACAGGCATTCCAACCACTGTGACTCCAGAGATTGAGAGAGTCAAACGCAATCAAGAGAACTTTAGCTCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183091-'164-172,'164-171,165-172=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.656 A=0.716 C2=0.732
Domain overlap (PFAM):
C1:
PF0088013=Nebulin=PD(25.0=19.4),PF0088013=Nebulin=PU(61.5=51.6)
A:
PF0088013=Nebulin=PD(30.8=25.8),PF0088013=Nebulin=PU(64.0=51.6)
C2:
PF0088013=Nebulin=PD(28.0=22.6),PF0088013=Nebulin=PU(57.1=51.6)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGTCTCACCAGGAACGGCTAT
R:
CGAGCTAAAGTTCTCTTGATTGCG
Band lengths:
169-262
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)