HsaEX6015980 @ hg19
Exon Skipping
Gene
ENSG00000183091 | NEB
Description
nebulin [Source:HGNC Symbol;Acc:7720]
Coordinates
chr2:152404148-152406254:-
Coord C1 exon
chr2:152406150-152406254
Coord A exon
chr2:152404822-152404929
Coord C2 exon
chr2:152404148-152404252
Length
108 bp
Sequences
Splice sites
3' ss Seq
TTCTGACTTTGCTTTTGCAGTTC
3' ss Score
9.12
5' ss Seq
GAGGTACCT
5' ss Score
7.63
Exon sequences
Seq C1 exon
AATCTATACAAAACCAGCCTGCGCACCCTGCCCACTGGATATAGACTTCCAGGTGACACTCCTCACTTCAAACACATCAAGGACACCCGTTACATGAGCAGTTAT
Seq A exon
TTCAAGTACAAAGAAGCCTATGAACACACCAAGGCATATGGGTATACACTTGGCCCCAAAGATGTTCCATTTGTCCACGTCCGGAGAGTCAACAATGTTACCAGCGAG
Seq C2 exon
AGACTGTATCGGGAATTGTACCACAAACTGAAAGACAAGATCCATACAACTCCCGATACCCCTGAGATCCGCCAAGTCAAGAAGACACAAGAGGCTGTCAGTGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183091-'125-126,'125-125,126-126=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=0.257
Domain overlap (PFAM):
C1:
PF0088013=Nebulin=PU(55.2=45.7)
A:
PF0088013=Nebulin=PD(37.9=30.6),PF0088013=Nebulin=PU(55.2=44.4)
C2:
PF0088013=Nebulin=PD(37.9=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:
AATCTATACAAAACCAGCCTGCG
R:
CTCACTGACAGCCTCTTGTGT
Band lengths:
210-318
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)