HsaEX0040951 @ hg19
Exon Skipping
Gene
ENSG00000133026 | MYH10
Description
myosin, heavy chain 10, non-muscle [Source:HGNC Symbol;Acc:7568]
Coordinates
chr17:8473038-8480656:-
Coord C1 exon
chr17:8480554-8480656
Coord A exon
chr17:8479961-8479990
Coord C2 exon
chr17:8473038-8473130
Length
30 bp
Sequences
Splice sites
3' ss Seq
TGTCTGTTTGTAATGAACAGCAG
3' ss Score
4.98
5' ss Seq
CAGGCAAGT
5' ss Score
3.1
Exon sequences
Seq C1 exon
GGGTGAGTCAGGTGCTGGGAAGACAGAAAATACAAAGAAAGTTATTCAGTACCTTGCCCATGTTGCTTCTTCACATAAAGGAAGAAAGGACCATAATATTCCT
Seq A exon
CAGGAATCGCCTAAACCAGTGAAACACCAG
Seq C2 exon
GGGGAACTTGAACGGCAGCTTTTGCAAGCAAATCCAATTCTGGAATCATTTGGAAATGCGAAGACTGTGAAAAATGATAACTCATCTCGTTTT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000133026-'8-10,'8-8,9-10
Average complexity
S
Mappability confidence:
100%=100=80%
Protein Impact
Alternative protein isoforms (No Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.262 A=0.950 C2=0.089
Domain overlap (PFAM):
C1:
PF0006316=Myosin_head=FE(5.0=100)
A:
PF0006316=Myosin_head=FE(1.3=100)
C2:
PF0006316=Myosin_head=FE(4.4=100)
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
TCAGGTGCTGGGAAGACAGAA
R:
GCAAAAGCTGCCGTTCAAGTT
Band lengths:
121-151
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
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)