GgaEX0001306 @ galGal4
Exon Skipping
Gene
ENSGALG00000001183 | MYH10
Description
myosin-10 [Source:RefSeq peptide;Acc:NP_990805]
Coordinates
chr18:1742589-1751903:-
Coord C1 exon
chr18:1751801-1751903
Coord A exon
chr18:1746315-1746344
Coord C2 exon
chr18:1742589-1742681
Length
30 bp
Sequences
Splice sites
3' ss Seq
TGTTTGTTTGCAACGAACAGCCC
3' ss Score
2.61
5' ss Seq
CAGGCAAGT
5' ss Score
3.1
Exon sequences
Seq C1 exon
AGGCGAATCTGGTGCCGGGAAGACTGAAAACACTAAGAAGGTTATTCAATACCTTGCTCACGTTGCTTCCTCCCACAAAGGAAGAAAGGACCATAATATTCCT
Seq A exon
CCCGAATCACCTAAACCCGTGAAACATCAG
Seq C2 exon
GGGGAGCTGGAGCGTCAGCTTCTTCAGGCAAATCCCATTCTGGAATCCTTCGGGAACGCGAAGACGGTGAAGAACGACAACTCCTCTCGCTTC
VastDB Features
Vast-tools module Information
Secondary ID
ENSGALG00000001183_MULTIEX2-1/2=C1-2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.220 A=1.000 C2=0.078
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)
Main Inclusion Isoform:
ENSGALT00000023397fB131
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
ACGTTGCTTCCTCCCACAAAG
R:
TTCTTCACCGTCTTCGCGTTC
Band lengths:
118-148
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]