HsaEX0042348 @ hg38
Exon Skipping
Gene
ENSG00000183091 | NEB
Description
nebulin [Source:HGNC Symbol;Acc:HGNC:7720]
Coordinates
chr2:151492387-151493867:-
Coord C1 exon
chr2:151493775-151493867
Coord A exon
chr2:151493353-151493445
Coord C2 exon
chr2:151492387-151492494
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-'220-220,'220-218,221-220
Average complexity
S
Mappability confidence:
78%=50=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.971 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
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal3)
No conservation detected
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