HsaEX6015979 @ hg19
Exon Skipping
Gene
ENSG00000183091 | NEB
Description
nebulin [Source:HGNC Symbol;Acc:7720]
Coordinates
chr2:152404822-152408359:-
Coord C1 exon
chr2:152408252-152408359
Coord A exon
chr2:152406150-152406254
Coord C2 exon
chr2:152404822-152404929
Length
105 bp
Sequences
Splice sites
3' ss Seq
GCTCTTCCTCATTCCTGCAGAAT
3' ss Score
10.08
5' ss Seq
TATGTGAGT
5' ss Score
5.56
Exon sequences
Seq C1 exon
GCTGTCTACCACTATGACTATGTGCACAGTGTCAGAGGCAAAGTGGCTCCAACTACCAAAACCGTGGATCTGGACCGGGCCCTTCATGCATACAAGCTCCAGAGTTCG
Seq A exon
AATCTATACAAAACCAGCCTGCGCACCCTGCCCACTGGATATAGACTTCCAGGTGACACTCCTCACTTCAAACACATCAAGGACACCCGTTACATGAGCAGTTAT
Seq C2 exon
TTCAAGTACAAAGAAGCCTATGAACACACCAAGGCATATGGGTATACACTTGGCCCCAAAGATGTTCCATTTGTCCACGTCCGGAGAGTCAACAATGTTACCAGCGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183091-'124-125,'124-124,125-125=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(35.7=27.8)
A:
PF0088013=Nebulin=PU(55.2=45.7)
C2:
PF0088013=Nebulin=PD(37.9=30.6),PF0088013=Nebulin=PU(55.2=44.4)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCTGTCTACCACTATGACTATGTGC
R:
TGGTAACATTGTTGACTCTCCGG
Band lengths:
211-316
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)