HsaEX6021066 @ hg38
Exon Skipping
Gene
ENSG00000125414 | MYH2
Description
myosin heavy chain 2 [Source:HGNC Symbol;Acc:HGNC:7572]
Coordinates
chr17:10529832-10533421:-
Coord C1 exon
chr17:10533285-10533421
Coord A exon
chr17:10531633-10531888
Coord C2 exon
chr17:10529832-10530074
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-'27-31,'27-29,28-31=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)
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
Mouse
(mm9)
No conservation detected
Chicken
(galGal3)
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