Special

HsaEX6021067 @ hg19

Exon Skipping

Gene
Description
myosin, heavy chain 2, skeletal muscle, adult [Source:HGNC Symbol;Acc:7572]
Coordinates
chr17:10431065-10432569:-
Coord C1 exon
chr17:10432479-10432569
Coord A exon
chr17:10432007-10432396
Coord C2 exon
chr17:10431065-10431191
Length
390 bp
Sequences
Splice sites
3' ss Seq
GTATTTTCCACCATTCCCAGGCC
3' ss Score
7.11
5' ss Seq
AAGGTACTA
5' ss Score
7.52
Exon sequences
Seq C1 exon
GAAAGAGTTTGAAATCAGCAATCTGCAAAGCAAGATTGAAGATGAACAGGCACTTGGCATTCAATTGCAGAAGAAAATTAAAGAATTGCAA
Seq A exon
GCCCGCATTGAGGAGCTGGAGGAGGAAATCGAGGCAGAGCGGGCCTCCCGGGCCAAAGCAGAGAAGCAGCGCTCTGACCTCTCCCGGGAGCTGGAGGAGATCAGCGAGAGGCTGGAAGAAGCCGGTGGGGCCACTTCAGCCCAGATTGAGATGAACAAGAAGCGGGAGGCTGAGTTCCAGAAAATGCGCAGGGACCTGGAGGAGGCCACCCTACAGCATGAAGCCACAGCGGCCACCCTGAGGAAGAAGCATGCAGATAGTGTGGCCGAGCTTGGGGAGCAGATTGACAACCTGCAGCGAGTGAAGCAGAAGCTGGAGAAGGAGAAGAGTGAGATGAAGATGGAGATTGATGACCTTGCTAGTAATGTAGAAACGGTCTCCAAAGCCAAG
Seq C2 exon
GGAAACCTAGAGAAAATGTGCCGGACTCTAGAGGACCAACTGAGTGAACTGAAATCAAAGGAAGAGGAGCAGCAGCGGCTGATCAATGACCTGACTGCGCAGAGGGGGCGCCTGCAGACTGAATCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000125414-'29-28,'29-27,30-28=AN
Average complexity
A_S
Mappability confidence:
100%=50=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.892 C2=0.837
Domain overlap (PFAM):

C1:
PF0003816=Filament=FE(10.6=100),PF0157614=Myosin_tail_1=FE(3.5=100)
A:
PF0003816=Filament=FE(45.4=100),PF0157614=Myosin_tail_1=FE(15.0=100),PF045827=Reo_sigmaC=PU(32.8=30.0)
C2:
PF0003816=Filament=FE(14.8=100),PF0157614=Myosin_tail_1=FE(4.9=100),PF045827=Reo_sigmaC=FE(35.3=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Chicken
(galGal4)
Chicken
(galGal3)
Zebrafish
(danRer10)
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGAGTTTGAAATCAGCAATCTGC
R:
AGATTCAGTCTGCAGGCGC
Band lengths:
214-604
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains