HsaEX6016010 @ hg19
Exon Skipping
Gene
ENSG00000183091 | NEB
Description
nebulin [Source:HGNC Symbol;Acc:7720]
Coordinates
chr2:152361992-152363527:-
Coord C1 exon
chr2:152363423-152363527
Coord A exon
chr2:152362680-152362772
Coord C2 exon
chr2:152361992-152362084
Length
93 bp
Sequences
Splice sites
3' ss Seq
TCCTGATTCTGAATGCCCAGGTT
3' ss Score
3.47
5' ss Seq
TCGGTAAAG
5' ss Score
6.18
Exon sequences
Seq C1 exon
CTCCAATACCAGTGTGACCTTAAAAACAGTAAAGGAAAAATTACAGTTGTTCAAGACACGCCAGAAATACTGCGTGTAAAAGAAAATCAGAAGAATTTCAGCTCG
Seq A exon
GTTTTATATAAAGAGGATGTCTCACCAGGAACGGCTATCGGAAAGACACCTGAGATGATGAGAGTGAAACAAACACAGGACCACATTAGCTCG
Seq C2 exon
GTGAAGTATAAGGAAGCAATAGGACAAGGAACTCCAATCCCTGACCTGCCTGAAGTGAAACGTGTGAAGGAGACGCAGAAGCACATTAGCTCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183091-'163-171,'163-170,164-171=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.091 A=0.656 C2=0.716
Domain overlap (PFAM):
C1:
PF0088013=Nebulin=PD(37.9=31.4),PF0088013=Nebulin=PU(66.7=45.7)
A:
PF0088013=Nebulin=PD(25.0=19.4),PF0088013=Nebulin=PU(61.5=51.6)
C2:
PF0088013=Nebulin=PD(30.8=25.8),PF0088013=Nebulin=PU(64.0=51.6)
Main Skipping Isoform:
NA
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:
CTCCAATACCAGTGTGACCTT
R:
CACGTTTCACTTCAGGCAGGT
Band lengths:
169-262
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)