HsaEX6015943 @ hg19
Exon Skipping
Gene
ENSG00000183091 | NEB
Description
nebulin [Source:HGNC Symbol;Acc:7720]
Coordinates
chr2:152512331-152514604:-
Coord C1 exon
chr2:152514497-152514604
Coord A exon
chr2:152512667-152512978
Coord C2 exon
chr2:152512331-152512537
Length
312 bp
Sequences
Splice sites
3' ss Seq
AACTCATATTTTCTTCACAGTAT
3' ss Score
6.6
5' ss Seq
GATGTAAGG
5' ss Score
6.35
Exon sequences
Seq C1 exon
AAACTCTACAAACTTTCCTTGGAAGAGTCTAAAAAGAAAGGCTATGATCTCAGACCTGATGCAATTCCTATCAAAGCTGCCAAGGCTTCCAGAGATATTGCAAGTGAT
Seq A exon
TATAAATACAAGTACAATTATGAAAAAGGGAAGGGGAAAATGGTTGGTTTCCGCAGTCTCGAGGATGATCCCAAATTAGTCCATTCCATGCAAGTGGCTAAGATGCAATCTGATCGGGAGTACAAGAAAAACTATGAGAACACAAAGACCAGCTACCACACCCCTGCCGACATGCTCAGTGTCACGGCTGCAAAGGATGCCCAAGCCAACATCACCAACACTAACTACAAGCACCTGATTCACAAGTACATCCTCCTTCCAGATGCAATGAACATTGAGCTGACCAGGAATATGAATCGCATACAGAGTGAT
Seq C2 exon
AATGAATATAAGCAAGATTACAATGAATGGTACAAAGGGCTTGGCTGGAGTCCAGCAGGTTCTCTGGAAGTGGAGAAGGCCAAGAAAGCAACTGAATATGCCAGTGATCAGAAATACCGCCAGCACCCGAGCAACTTCCAGTTTAAGAAGCTGACTGATTCCATGGACATGGTGCTTGCCAAGCAGAATGCACATACCATGAACAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183091-'49-50,'49-49,50-50=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.240 C2=0.101
Domain overlap (PFAM):
C1:
PF0088013=Nebulin=PD(37.9=30.6),PF0088013=Nebulin=PU(55.2=44.4)
A:
PF0088013=Nebulin=PD(37.9=10.6),PF0088013=Nebulin=WD(100=27.9),PF0088013=Nebulin=PU(55.2=15.4)
C2:
PF0088013=Nebulin=PD(37.9=15.9),PF0088013=Nebulin=PU(55.2=23.2)

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:
ACTCTACAAACTTTCCTTGGAAGAGT
R:
TGTTCATGGTATGTGCATTCTGCT
Band lengths:
311-623
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)