HsaEX7009214 @ hg38
Exon Skipping
Gene
ENSG00000125414 | MYH2
Description
myosin heavy chain 2 [Source:HGNC Symbol;Acc:HGNC:7572]
Coordinates
chr17:10529162-10529740:-
Coord C1 exon
chr17:10529564-10529740
Coord A exon
chr17:10529336-10529481
Coord C2 exon
chr17:10529162-10529252
Length
146 bp
Sequences
Splice sites
3' ss Seq
TCAACATAATTTATATTTAGCTT
3' ss Score
4.02
5' ss Seq
AAAGTAAGT
5' ss Score
9.72
Exon sequences
Seq C1 exon
GTGAAAAACCTCACAGAAGAGATGGCAGGTCTGGATGAAACCATTGCTAAGCTGACCAAGGAGAAGAAGGCTCTCCAGGAGGCCCACCAGCAGACCCTGGATGACCTGCAGGCAGAGGAGGACAAAGTCAACACCCTGACCAAAGCTAAAATCAAACTTGAACAACAAGTGGATGAT
Seq A exon
CTTGAAGGGTCCTTGGAGCAAGAAAAGAAACTTCGCATGGACCTAGAAAGGGCTAAGAGGAAACTTGAGGGTGACTTGAAGTTGGCCCAAGAATCCATAATGGACATTGAAAATGAGAAACAGCAACTTGATGAAAAGCTCAAAAA
Seq C2 exon
GAAAGAGTTTGAAATCAGCAATCTGCAAAGCAAGATTGAAGATGAACAGGCACTTGGCATTCAATTGCAGAAGAAAATTAAAGAATTGCAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000125414-'30-35,'30-34,31-35=AN
Average complexity
A_S
Mappability confidence:
75%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.508 A=0.388 C2=0.000
Domain overlap (PFAM):
C1:
PF0157614=Myosin_tail_1=PD(20.9=61.0),PF0157614=Myosin_tail_1=FE(41.7=100)
A:
PF0157614=Myosin_tail_1=PD(28.1=79.6),PF0157614=Myosin_tail_1=PU(1.6=28.6)
C2:
PF0157614=Myosin_tail_1=FE(3.5=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Mouse
(mm9)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCTCACAGAAGAGATGGCAGG
R:
TCTTCTGCAATTGAATGCCAAGT
Band lengths:
243-389
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains