HsaEX6016009 @ hg19
Exon Skipping
Gene
ENSG00000183091 | NEB
Description
nebulin [Source:HGNC Symbol;Acc:7720]
Coordinates
chr2:152362680-152364623:-
Coord C1 exon
chr2:152364519-152364623
Coord A exon
chr2:152363423-152363527
Coord C2 exon
chr2:152362680-152362772
Length
105 bp
Sequences
Splice sites
3' ss Seq
TGTTTACTCTTTCTTCATAGCTC
3' ss Score
9.02
5' ss Seq
TCGGTATAT
5' ss Score
4.42
Exon sequences
Seq C1 exon
AAAAAGTACAAGGAAGATGCTGAGAAGTCCATGTCGTATTATGAGACTGTTTTGGACACCCCAGAGATACAGAGAGTCCGGGAGAACCAAAAGAACTTCAGCCTT
Seq A exon
CTCCAATACCAGTGTGACCTTAAAAACAGTAAAGGAAAAATTACAGTTGTTCAAGACACGCCAGAAATACTGCGTGTAAAAGAAAATCAGAAGAATTTCAGCTCG
Seq C2 exon
GTTTTATATAAAGAGGATGTCTCACCAGGAACGGCTATCGGAAAGACACCTGAGATGATGAGAGTGAAACAAACACAGGACCACATTAGCTCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183091-'162-170,'162-167,163-170=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.269 A=0.091 C2=0.656
Domain overlap (PFAM):
C1:
PF0088013=Nebulin=PD(37.9=31.4),PF0088013=Nebulin=PU(55.2=45.7)
A:
PF0088013=Nebulin=PD(37.9=31.4),PF0088013=Nebulin=PU(66.7=45.7)
C2:
PF0088013=Nebulin=PD(25.0=19.4),PF0088013=Nebulin=PU(61.5=51.6)
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:
AGTACAAGGAAGATGCTGAGAAGT
R:
CGAGCTAATGTGGTCCTGTGT
Band lengths:
194-299
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)