HsaEX6015988 @ hg19
Exon Skipping
Gene
ENSG00000183091 | NEB
Description
nebulin [Source:HGNC Symbol;Acc:7720]
Coordinates
chr2:152394386-152396962:-
Coord C1 exon
chr2:152396858-152396962
Coord A exon
chr2:152394654-152394758
Coord C2 exon
chr2:152394386-152394490
Length
105 bp
Sequences
Splice sites
3' ss Seq
TGTGTTTTTTCTCTTTCTAGCTA
3' ss Score
10.9
5' ss Seq
AAAGTATGT
5' ss Score
6.93
Exon sequences
Seq C1 exon
AAAAAGTACAAGATTCAATATGAAAAGATGAAAGACAAGTACACTCCGGTTCCAGATACGCCAATCCTCATCAGAGCCAAGAGGGCTTACTGGAATGCCAGTGAT
Seq A exon
CTACGCTACAAAGAAACATTTCAAAAGACCAAAGGGAAATACCACACGGTGAAAGATGCCCTAGACATTGTCTATCATCGCAAAGTCACAGATGACATCAGTAAA
Seq C2 exon
ATAAAATACAAGGAGAACTACATGAGCCAGTTGGGTATCTGGAGGTCCATTCCTGATCGTCCAGAGCATTTCCACCACCGAGCAGTCACTGACACAGTCAGTGAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183091-'133-135,'133-134,134-135=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0088013=Nebulin=PD(42.3=31.4),PF0088013=Nebulin=PU(55.2=45.7)
A:
PF0088013=Nebulin=PD(37.9=31.4)
C2:
PF0088013=Nebulin=PU(55.2=45.7)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ATGAAAAGATGAAAGACAAGTACACT
R:
TGACTGTGTCAGTGACTGCTC
Band lengths:
186-291
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)