HsaEX6021069 @ hg19
Exon Skipping
Gene
ENSG00000125414 | MYH2
Description
myosin, heavy chain 2, skeletal muscle, adult [Source:HGNC Symbol;Acc:7572]
Coordinates
chr17:10429916-10431191:-
Coord C1 exon
chr17:10431065-10431191
Coord A exon
chr17:10430255-10430373
Coord C2 exon
chr17:10429916-10430112
Length
119 bp
Sequences
Splice sites
3' ss Seq
CCATTTCTTTTGTCCATCAGGTG
3' ss Score
9.12
5' ss Seq
AAAGTAATT
5' ss Score
3.64
Exon sequences
Seq C1 exon
GGAAACCTAGAGAAAATGTGCCGGACTCTAGAGGACCAACTGAGTGAACTGAAATCAAAGGAAGAGGAGCAGCAGCGGCTGATCAATGACCTGACTGCGCAGAGGGGGCGCCTGCAGACTGAATCTG
Seq A exon
GTGAGTTTTCACGCCAGCTTGATGAAAAGGAAGCTCTGGTGTCTCAGTTATCAAGAGGCAAACAAGCCTTTACTCAACAGATTGAAGAATTAAAGAGGCAACTTGAAGAGGAGATAAAA
Seq C2 exon
GCCAAGAACGCCCTGGCGCATGCCCTGCAGTCTTCCCGCCACGACTGTGACCTGCTGCGGGAACAGTATGAGGAGGAGCAGGAATCCAAGGCCGAGCTGCAGAGAGCACTGTCCAAGGCCAACACCGAGGTTGCCCAATGGAGGACCAAATACGAGACGGACGCCATCCAGCGCACAGAGGAGCTGGAGGAGGCCAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000125414-'31-30,'31-29,32-30=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.837 A=0.175 C2=0.424
Domain overlap (PFAM):
C1:
PF0003816=Filament=FE(14.8=100),PF0157614=Myosin_tail_1=FE(4.9=100),PF045827=Reo_sigmaC=FE(35.3=100)
A:
PF0003816=Filament=PD(4.6=32.5),PF0157614=Myosin_tail_1=FE(4.5=100),PF045827=Reo_sigmaC=PD(30.3=90.0)
C2:
PF0157614=Myosin_tail_1=FE(7.6=100)
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:
CCGGACTCTAGAGGACCAACT
R:
TTTGGTCCTCCATTGGGCAAC
Band lengths:
257-376
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)