HsaEX6021065 @ hg19
Exon Skipping
Gene
ENSG00000125414 | MYH2
Description
myosin, heavy chain 2, skeletal muscle, adult [Source:HGNC Symbol;Acc:7572]
Coordinates
chr17:10438390-10439923:-
Coord C1 exon
chr17:10439847-10439923
Coord A exon
chr17:10438595-10438682
Coord C2 exon
chr17:10438390-10438507
Length
88 bp
Sequences
Splice sites
3' ss Seq
GATTTTTCCTGGTTTTACAGGAG
3' ss Score
8.38
5' ss Seq
CTGGTAAGA
5' ss Score
9.45
Exon sequences
Seq C1 exon
AGGGAGCTGGTGGAGGGGCCAAGAAAGGTGGTAAGAAGAAGGGCTCTTCTTTCCAGACAGTGTCTGCCCTTTTCAGA
Seq A exon
GAGAATTTGAACAAGCTGATGACCAACCTCAGGAGTACCCATCCTCACTTTGTGAGGTGTATCATCCCCAATGAGACAAAAACTCCTG
Seq C2 exon
GTGCCATGGAGCATGAGCTTGTCCTCCACCAGCTGAGGTGTAACGGTGTGCTGGAAGGCATCCGCATCTGTAGGAAAGGATTTCCAAGCAGAATCCTTTATGCAGACTTCAAACAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000125414-'19-19,'19-18,20-19=AN
Average complexity
A_S
Mappability confidence:
88%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.449 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0006316=Myosin_head=FE(4.3=100),PF0157614=Myosin_tail_1=PU(2.3=3.8),PF0026115=Tropomyosin=PU(12.1=26.9)
A:
PF0006316=Myosin_head=FE(4.2=100)
C2:
PF0006316=Myosin_head=FE(5.7=100)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGGGCCAAGAAAGGTGGTAAG
R:
TCTGCATAAAGGATTCTGCTTGGA
Band lengths:
169-257
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)