HsaEX1025415 @ hg38
Exon Skipping
Gene
ENSG00000183091 | NEB
Description
nebulin [Source:HGNC Symbol;Acc:HGNC:7720]
Coordinates
chr2:151502793-151505570:-
Coord C1 exon
chr2:151505478-151505570
Coord A exon
chr2:151503349-151503441
Coord C2 exon
chr2:151502793-151502885
Length
93 bp
Sequences
Splice sites
3' ss Seq
ATTCTAATTATTTTCTACAGGTT
3' ss Score
8.42
5' ss Seq
TCGGTATTT
5' ss Score
4.52
Exon sequences
Seq C1 exon
GTGAAGTATAAGGAAGCAATAGGACAAGGAACTCCAATCCCTGACCTGCCTGAAGTGAAACGTGTGAAGGAGACGCAGAAGCACATTAGCTCG
Seq A exon
GTTATGTACAAAGAAAACTTGGGAACAGGCATTCCAACCACTGTGACTCCAGAGATTGAGAGAGTCAAACGCAATCAAGAGAACTTTAGCTCG
Seq C2 exon
GTTTTGTACAAAGAAAATTTGGGGAAAGGAATCCCAACACCTATCACTCCAGAGATGGAGAGAGTCAAACGCAATCAAGAGAACTTTAGCTCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183091-'203-208,'203-207,206-208
Average complexity
S
Mappability confidence:
100%=100=25%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.675 A=0.698 C2=0.703
Domain overlap (PFAM):
C1:
PF0088013=Nebulin=PD(30.8=25.8),PF0088013=Nebulin=PU(64.0=51.6)
A:
PF0088013=Nebulin=PD(28.0=22.6),PF0088013=Nebulin=PU(57.1=51.6)
C2:
PF0088013=Nebulin=PD(35.7=32.3),PF0088013=Nebulin=PU(57.1=51.6)
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TAGGACAAGGAACTCCAATCCCT
R:
CGAGCTAAAGTTCTCTTGATTGCG
Band lengths:
167-260
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains