HsaEX0042345 @ hg19
Exon Skipping
Gene
ENSG00000183091 | NEB
Description
nebulin [Source:HGNC Symbol;Acc:7720]
Coordinates
chr2:152388306-152392309:-
Coord C1 exon
chr2:152392205-152392309
Coord A exon
chr2:152390729-152390833
Coord C2 exon
chr2:152388306-152388410
Length
105 bp
Sequences
Splice sites
3' ss Seq
ATGCTATGATGTTTGAGCAGAAA
3' ss Score
2.69
5' ss Seq
CAGGTACTG
5' ss Score
9.04
Exon sequences
Seq C1 exon
TATAAGTATAAAGAAGTATTTGAAAGGACAAAGTCAGATTTCAAGTATGTTGCCGACTCTCCGATCAATAGGCATTTCAAGTATGCAACTCAATTGATGAATGAG
Seq A exon
AAAAAATACAGAGCTGATTATGAGCAGCGGAAAGATAAATACCACCTGGTAGTCGATGAGCCTAGACATCTGCTGGCTAAGACCGCAGGCGACCAGATCAGTCAG
Seq C2 exon
ATCAAATACAGGAAAAACTATGAAAAATCAAAGGACAAATTTACCTCAATTGTGGATACTCCAGAACACCTGCGTACTACAAAAGTCAACAAACAAATCAGCGAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183091-'137-143,'137-138,138-143
Average complexity
ME(138_138-139_139[100=100])
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=0.027
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(55.2=45.7)
C2:
PF0088013=Nebulin=PD(37.9=31.4),PF0088013=Nebulin=PU(55.2=45.7)
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAAGTATTTGAAAGGACAAAGTCAGA
R:
TCGCTGATTTGTTTGTTGACTT
Band lengths:
197-302
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)