HsaEX6015978 @ hg19
Exon Skipping
Gene
ENSG00000183091 | NEB
Description
nebulin [Source:HGNC Symbol;Acc:7720]
Coordinates
chr2:152406150-152409290:-
Coord C1 exon
chr2:152409186-152409290
Coord A exon
chr2:152408252-152408359
Coord C2 exon
chr2:152406150-152406254
Length
108 bp
Sequences
Splice sites
3' ss Seq
AATGCTTCTTTCTGCACCAGGCT
3' ss Score
7.29
5' ss Seq
TCGGTGAGC
5' ss Score
9.1
Exon sequences
Seq C1 exon
ATCAAGTATAAAGCTCACATGTTGAAAACAAGGAATGACTACAAGCTTGTCACAGATACACCAGTCTACGTGCAGGCTGTCAAAAGTGGGAAACAGCTAAGTGAC
Seq A exon
GCTGTCTACCACTATGACTATGTGCACAGTGTCAGAGGCAAAGTGGCTCCAACTACCAAAACCGTGGATCTGGACCGGGCCCTTCATGCATACAAGCTCCAGAGTTCG
Seq C2 exon
AATCTATACAAAACCAGCCTGCGCACCCTGCCCACTGGATATAGACTTCCAGGTGACACTCCTCACTTCAAACACATCAAGGACACCCGTTACATGAGCAGTTAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183091-'123-124,'123-123,124-124=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(37.9=31.4),PF0088013=Nebulin=PU(57.1=45.7)
A:
PF0088013=Nebulin=PD(35.7=27.8)
C2:
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:
ATCAAGTATAAAGCTCACATGTTGAA
R:
ATAACTGCTCATGTAACGGGTGT
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)