HsaEX0042348 @ hg19
Exon Skipping
Gene
ENSG00000183091 | NEB
Description
nebulin [Source:HGNC Symbol;Acc:7720]
Coordinates
chr2:152348901-152350381:-
Coord C1 exon
chr2:152350289-152350381
Coord A exon
chr2:152349867-152349959
Coord C2 exon
chr2:152348901-152349008
Length
93 bp
Sequences
Splice sites
3' ss Seq
TGCTCTTTTGGCTTCCCTAGGTA
3' ss Score
11
5' ss Seq
TCGGTATTT
5' ss Score
4.52
Exon sequences
Seq C1 exon
GTGTTATACAAAGAGAACCTGGGGAAAGCAACCCCCACACCCTTTACTCCTGAGATGGAAAGAGTGAAACGCAATCAAGAAAACTTTAGCTCG
Seq A exon
GTATTGTACAAAGAGAACATGAGAAAAGCAACTCCGACACCTGTTACTCCAGAGATGGAGAGAGCTAAGCGCAACCAAGAAAACATTAGCTCG
Seq C2 exon
GTTCTTTATTCTGATAGTTTCCGGAAACAAATACAAGGCAAAGCTGCCTATGTATTGGATACCCCCGAGATGAGACGGGTGAGGGAGACCCAACGGCACATCTCAACG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183091-'177-185,'177-183,178-185
Average complexity
S
Mappability confidence:
78%=50=100%
Protein Impact
Alternative protein isoforms (No Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.975 A=1.000 C2=0.528
Domain overlap (PFAM):
C1:
PF0088013=Nebulin=PD(37.9=35.5),PF0088013=Nebulin=PU(55.2=51.6)
A:
PF0088013=Nebulin=PD(37.9=35.5),PF0088013=Nebulin=PU(55.2=51.6)
C2:
PF0088013=Nebulin=PD(37.9=30.6),PF0088013=Nebulin=PU(55.2=44.4)
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAGAACCTGGGGAAAGCAACC
R:
CTCCCTCACCCGTCTCATCTC
Band lengths:
168-261
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development
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)