HsaEX6015947 @ hg19
Exon Skipping
Gene
ENSG00000183091 | NEB
Description
nebulin [Source:HGNC Symbol;Acc:7720]
Coordinates
chr2:152506690-152510613:-
Coord C1 exon
chr2:152510506-152510613
Coord A exon
chr2:152507088-152507399
Coord C2 exon
chr2:152506690-152506893
Length
312 bp
Sequences
Splice sites
3' ss Seq
TGTGTTTTCTCTGATTTCAGTAT
3' ss Score
8.19
5' ss Seq
GAGGTCAGT
5' ss Score
7.7
Exon sequences
Seq C1 exon
AAACTCTATAAACTTGGATGGGAAGAAGCTTTGAAGAAAGGCTATGATCTCCCAGTTGATGCAATTTCTGTACAGCTAGCTAAAGCTTCAAGAGACATTGCTAGTGAT
Seq A exon
TATAAATACAAACAAGGCTACCGAAAGCAACTTGGCCACCATGTTGGATTCCGGAGTCTGCAAGATGACCCAAAACTTGTGTTGTCCATGAATGTAGCCAAAATGCAGAGTGAAAGAGAATACAAGAAGGACTTTGAGAAGTGGAAAACTAAGTTCTCCAGCCCAGTGGACATGTTGGGAGTGGTACTGGCCAAGAAGTGTCAGGAGTTGGTTAGTGACGTGGACTACAAGAACTACCTGCATCAGTGGACATGTCTGCCTGATCAGAACGATGTTGTGCAAGCTAAGAAAGTTTATGAACTGCAAAGTGAG
Seq C2 exon
AATCTATATAAATCTGACCTTGAGTGGCTGAGAGGCATAGGATGGAGTCCCTTGGGTTCTTTAGAGGCAGAAAAGAACAAGCGGGCTTCGGAAATCATCAGTGAGAAGAAATATCGTCAGCCTCCAGACAGAAACAAGTTCACCAGCATTCCTGATGCCATGGATATAGTTCTGGCAAAGACAAATGCCAAAAATAGGAGTGAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183091-'53-54,'53-53,54-54=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.118
Domain overlap (PFAM):
C1:
PF0088013=Nebulin=PD(37.9=30.6),PF0088013=Nebulin=PU(55.2=44.4)
A:
PF0088013=Nebulin=PD(37.9=10.6),PF0088013=Nebulin=WD(100=27.9),PF0088013=Nebulin=PU(55.2=15.4)
C2:
PF0088013=Nebulin=PD(37.9=16.2),PF0088013=Nebulin=PU(55.2=23.5)
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:
AACTCTATAAACTTGGATGGGAAGA
R:
TCACTCCTATTTTTGGCATTTGTCT
Band lengths:
310-622
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)