HsaEX6021066 @ hg19
Exon Skipping
Gene
ENSG00000125414 | MYH2
Description
myosin, heavy chain 2, skeletal muscle, adult [Source:HGNC Symbol;Acc:7572]
Coordinates
chr17:10433149-10436738:-
Coord C1 exon
chr17:10436602-10436738
Coord A exon
chr17:10434950-10435205
Coord C2 exon
chr17:10433149-10433391
Length
256 bp
Sequences
Splice sites
3' ss Seq
TTGCATCAATTAAATTTCAGGGA
3' ss Score
7.02
5' ss Seq
GCTGTGAGT
5' ss Score
7.39
Exon sequences
Seq C1 exon
GTCTTTTTCAAAGCTGGTCTTCTGGGGCTCCTAGAGGAGATGCGAGATGACAAGCTGGCCCAGCTGATTACCCGAACCCAGGCCAGGTGCAGAGGGTTCTTGGCAAGAGTGGAGTACCAGAGGATGGTGGAGAGAAG
Seq A exon
GGAGGCCATCTTCTGTATCCAGTACAATATCAGATCCTTCATGAATGTCAAGCACTGGCCCTGGATGAAACTCTTCTTCAAGATCAAGCCTCTGTTGAAGAGTGCAGAAACTGAGAAGGAGATGGCCACCATGAAGGAAGAATTTCAGAAAATTAAAGACGAACTTGCCAAGTCAGAGGCAAAAAGGAAGGAACTGGAAGAAAAGATGGTGACGCTGTTGAAAGAAAAAAATGACTTGCAGCTCCAAGTTCAGGCT
Seq C2 exon
GAAGCCGAAGGCTTGGCTGATGCAGAGGAAAGGTGTGACCAGCTAATCAAAACCAAAATCCAGCTAGAAGCCAAAATCAAAGAGGTGACTGAGAGAGCTGAGGATGAGGAAGAGATCAATGCTGAGCTGACAGCCAAGAAGAGGAAACTGGAGGATGAATGTTCAGAACTCAAGAAAGACATTGATGACCTTGAGCTGACACTGGCCAAGGTTGAGAAGGAGAAACATGCCACAGAAAACAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000125414-'23-23,'23-22,25-23=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=0.000 A=0.023 C2=0.321
Domain overlap (PFAM):
C1:
PF0006316=Myosin_head=PD(0.4=6.5),PF0061222=IQ=WD(100=43.5)
A:
PF0157614=Myosin_tail_1=PU(30.8=61.6)
C2:
PF0157614=Myosin_tail_1=FE(46.5=100),PF0157614=Myosin_tail_1=PU(28.1=48.1)
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:
CAGCTGATTACCCGAACCCAG
R:
TCTCCTTCTCAACCTTGGCCA
Band lengths:
300-556
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)