HsaEX6015984 @ hg19
Exon Skipping
Gene
ENSG00000183091 | NEB
Description
nebulin [Source:HGNC Symbol;Acc:7720]
Coordinates
chr2:152397961-152402957:-
Coord C1 exon
chr2:152402859-152402957
Coord A exon
chr2:152402402-152402512
Coord C2 exon
chr2:152397961-152398065
Length
111 bp
Sequences
Splice sites
3' ss Seq
TTTTTTTTTTTTTTTTTAAGTCT
3' ss Score
8.66
5' ss Seq
GAGGTAAGG
5' ss Score
10.28
Exon sequences
Seq C1 exon
ATTAAATACAAAGAGGACTTGCAGGTCCTGAAGGGATTTGGCTGCTTCCTGTATGACACTCCTGACATGGTCCGCTCCCGGCACCTGCGGAAGCTCTGG
Seq A exon
TCTAATTACCTATACACTGATAAGGCAAGGAAGATGCGAGACAAATACAAAGTGGTGCTTGACACTCCAGAATACAGAAAAGTGCAAGAACTGAAGACACATCTGAGTGAG
Seq C2 exon
CTGGTCTACAGAGCTGCAGGCAAGAAGCAGAAGTCAATCTTTACTTCAGTTCCTGATACTCCTGATCTTTTAAGAGCCAAGCGAGGGCAGAAGCTTCAGAGTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183091-'129-130,'129-129,130-130=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.029
Domain overlap (PFAM):
C1:
PF0088013=Nebulin=PD(39.3=33.3),PF0088013=Nebulin=PU(48.3=42.4)
A:
PF0088013=Nebulin=PD(44.8=35.1),PF0088013=Nebulin=PU(55.2=43.2)
C2:
PF0088013=Nebulin=PD(37.9=31.4),PF0088013=Nebulin=PU(72.7=45.7)
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:
TAAATACAAAGAGGACTTGCAGGT
R:
CTGACTCTGAAGCTTCTGCCC
Band lengths:
202-313
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)