HsaEX6015975 @ hg19
Exon Skipping
Gene
ENSG00000183091 | NEB
Description
nebulin [Source:HGNC Symbol;Acc:7720]
Coordinates
chr2:152409912-152411558:-
Coord C1 exon
chr2:152411445-152411558
Coord A exon
chr2:152410342-152410539
Coord C2 exon
chr2:152409912-152410016
Length
198 bp
Sequences
Splice sites
3' ss Seq
ATGTGATTTTAACTTTACAGCGC
3' ss Score
8.39
5' ss Seq
GATGTAAGC
5' ss Score
6.16
Exon sequences
Seq C1 exon
ATCAAATATCGGGAAGAATATGAAAAGTTCAAAGCTCTTTATACGTTACCAAGAAGTGTTGACGATGATCCGAACACAGCACGGTGCCTCCGAGTTGGCAAGCTTAACATCGAT
Seq A exon
CGCCTGTACAGATCAGTTTATGAAAAGAACAAGATGAAAATCCACATCGTGCCCGACATGGTAGAGATGGTTACTGCCAAGGATTCCCAGAAGAAAGTCAGTGAGATTGATTACCGCCTGCGCCTCCACGAATGGATTTGCCACCCCGACTTGCAAGTCAATGATCACGTCAGGAAAGTCACAGATCAGATCAGCGAT
Seq C2 exon
ATTGTATACAAGGATGACCTCAACTGGCTGAAAGGCATTGGTTGCTACGTCTGGGACACTCCTGAAATCCTCCATGCCAAGCATGCTTATGATCTACGTGATGAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183091-'120-121,'120-120,121-121=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(39.3=28.9)
A:
PF0088013=Nebulin=PU(50.0=19.7)
C2:
PF0088013=Nebulin=PD(42.3=31.4),PF0088013=Nebulin=PU(55.2=45.7)
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:
CGGGAAGAATATGAAAAGTTCAAAGC
R:
ATCATCACGTAGATCATAAGCATGCT
Band lengths:
210-408
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)