GgaEX0001306 @ galGal3
Exon Skipping
Gene
ENSGALG00000001183 | Q789A6_CHICK
Description
NA
Coordinates
chr18:1729616-1738930:-
Coord C1 exon
chr18:1738828-1738930
Coord A exon
chr18:1733342-1733371
Coord C2 exon
chr18:1729616-1729708
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_CASSETTE4
Average complexity
S*
Mappability confidence:
NA
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.320 A=1.000 C2=0.092
Domain overlap (PFAM):
C1:
PF0006316=Myosin_head=FE(5.2=100)
A:
PF0006316=Myosin_head=FE(1.7=100)
C2:
PF0006316=Myosin_head=FE(4.6=100)
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
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]