HsaEX6021068 @ hg19
Exon Skipping
Gene
ENSG00000125414 | MYH2
Description
myosin, heavy chain 2, skeletal muscle, adult [Source:HGNC Symbol;Acc:7572]
Coordinates
chr17:10430255-10432396:-
Coord C1 exon
chr17:10432007-10432396
Coord A exon
chr17:10431065-10431191
Coord C2 exon
chr17:10430255-10430373
Length
127 bp
Sequences
Splice sites
3' ss Seq
TTTTACTTTTTCTTCTATAGGGA
3' ss Score
11.85
5' ss Seq
CTGGTAACT
5' ss Score
5.45
Exon sequences
Seq C1 exon
GCCCGCATTGAGGAGCTGGAGGAGGAAATCGAGGCAGAGCGGGCCTCCCGGGCCAAAGCAGAGAAGCAGCGCTCTGACCTCTCCCGGGAGCTGGAGGAGATCAGCGAGAGGCTGGAAGAAGCCGGTGGGGCCACTTCAGCCCAGATTGAGATGAACAAGAAGCGGGAGGCTGAGTTCCAGAAAATGCGCAGGGACCTGGAGGAGGCCACCCTACAGCATGAAGCCACAGCGGCCACCCTGAGGAAGAAGCATGCAGATAGTGTGGCCGAGCTTGGGGAGCAGATTGACAACCTGCAGCGAGTGAAGCAGAAGCTGGAGAAGGAGAAGAGTGAGATGAAGATGGAGATTGATGACCTTGCTAGTAATGTAGAAACGGTCTCCAAAGCCAAG
Seq A exon
GGAAACCTAGAGAAAATGTGCCGGACTCTAGAGGACCAACTGAGTGAACTGAAATCAAAGGAAGAGGAGCAGCAGCGGCTGATCAATGACCTGACTGCGCAGAGGGGGCGCCTGCAGACTGAATCTG
Seq C2 exon
GTGAGTTTTCACGCCAGCTTGATGAAAAGGAAGCTCTGGTGTCTCAGTTATCAAGAGGCAAACAAGCCTTTACTCAACAGATTGAAGAATTAAAGAGGCAACTTGAAGAGGAGATAAAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000125414-'30-29,'30-28,31-29=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=0.892 A=0.837 C2=0.175
Domain overlap (PFAM):
C1:
PF0003816=Filament=FE(45.4=100),PF0157614=Myosin_tail_1=FE(15.0=100),PF045827=Reo_sigmaC=PU(32.8=30.0)
A:
PF0003816=Filament=FE(14.8=100),PF0157614=Myosin_tail_1=FE(4.9=100),PF045827=Reo_sigmaC=FE(35.3=100)
C2:
PF0003816=Filament=PD(4.6=32.5),PF0157614=Myosin_tail_1=FE(4.5=100),PF045827=Reo_sigmaC=PD(30.3=90.0)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCTGAGTTCCAGAAAATGCGC
R:
TCAAGCTGGCGTGAAAACTCA
Band lengths:
244-371
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)