HsaEX0040951 @ hg38
Exon Skipping
Gene
ENSG00000133026 | MYH10
Description
myosin heavy chain 10 [Source:HGNC Symbol;Acc:HGNC:7568]
Coordinates
chr17:8575129-8577338:-
Coord C1 exon
chr17:8577236-8577338
Coord A exon
chr17:8576643-8576669
Coord C2 exon
chr17:8575129-8575229
Length
27 bp
Sequences
Splice sites
3' ss Seq
CTGTTTGTAATGAACAGCAGGAA
3' ss Score
3.3
5' ss Seq
CAGGCAAGT
5' ss Score
3.1
Exon sequences
Seq C1 exon
GGGTGAGTCAGGTGCTGGGAAGACAGAAAATACAAAGAAAGTTATTCAGTACCTTGCCCATGTTGCTTCTTCACATAAAGGAAGAAAGGACCATAATATTCCT
Seq A exon
GAATCGCCTAAACCAGTGAAACACCAG
Seq C2 exon
AGTGGATCCCTGTTGTATGTGAGTAGCATGCCTACCCCCACCTAGATTTTACTTTGAGTCAAATCAATCCCTGGGAAGCAGGTTCTCCCAAAGAAGGCAGC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000133026-'24-13,'24-12,25-13
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.310 A=1.000 C2=NA
Domain overlap (PFAM):
C1:
PF0006316=Myosin_head=FE(20.0=100)
A:
PF0006316=Myosin_head=FE(1.2=100)
C2:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
TGCCCATGTTGCTTCTTCACA
R:
GCTTCCCAGGGATTGATTTGACT
Band lengths:
128-155
Functional annotations
There are 1 annotated functions for this event
PMID: 16481398
The B1-inserted isoform of NMHC II-B, which contains an insert of 10 amino acids (MmuEX0030346) near the ATP-binding region (loop 1) of the myosin heavy chain, is involved in normal migration of facial neurons. Deletion of the B1 alternative exon, together with reduced expression of myosin II-B, results in abnormal migration and consequent protrusion of facial neurons into the fourth ventricle. This protrusion is associated with the development of hydrocephalus. Restoring the amount of myosin II-B expression to wild-type levels prevents these defects, showing the importance of total myosin activity in facial neuron migration.
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development