HsaEX0041208 @ hg38
Exon Skipping
Gene
ENSG00000167306 | MYO5B
Description
myosin VB [Source:HGNC Symbol;Acc:HGNC:7603]
Coordinates
chr18:49853449-49863327:-
Coord C1 exon
chr18:49863227-49863327
Coord A exon
chr18:49856813-49856890
Coord C2 exon
chr18:49853449-49853647
Length
78 bp
Sequences
Splice sites
3' ss Seq
TTTCTGTCCTTTGTTTCTAGCAA
3' ss Score
9.49
5' ss Seq
CAGGTGGAA
5' ss Score
1.62
Exon sequences
Seq C1 exon
GAGCCGAACATTAATGCCAGATCAAGTTGGCCTAACAGTGAAAAGCATGTTGACCAGGAGGATGCCATTGAGGCCTATCACGGGGTCTGCCAGACAAACAG
Seq A exon
CAAGACTGAGGATTGGGGATATTTAAATGAAGATGGAGAACTCGGCTTGGCCTACCAAGGCCTAAAGCAAGTTGCCAG
Seq C2 exon
GCTGCTGGAGGCTCAGCTGCAGGCCCAGAGCCTGGAGCATGAGGAGGAGGTGGAGCATCTCAAGGCTCAGCTCGAGGCCCTGAAGGAGGAGATGGACAAACAGCAGCAGACCTTCTGCCAGACGCTACTGCTCTCCCCAGAGGCCCAGGTGGAATTCGGCGTTCAGCAGGAAATATCCCGGCTGACCAACGAGAATCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000167306_MULTIEX1-1/2=C1-2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.771 A=0.074 C2=0.203
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CATGTTGACCAGGAGGATGCC
R:
AAGGTCTGCTGCTGTTTGTCC
Band lengths:
170-248
Functional annotations
There are 1 annotated functions for this event
PMID: 19008234
Rab10 can interact with myosin Va, myosin Vb, and myosin Vc. Rab10 localized to a system of tubules and vesicles that have partially overlapping localization with Rab8a. Both Rab8a and Rab10 were mislocalized by the expression of dominant-negative myosin V tails. Interaction with Rab10 was dependent on the presence of the alternatively spliced exon D in myosin Va (HsaEX0041195) and myosin Vb (HsaEX0041208) and the homologous region in myosin Vc. Yeast two-hybrid assays and fluorescence resonance energy transfer studies confirmed that Rab10 binding to myosin V tails in vivo required the alternatively spliced exon D. In contrast to these previous work, the authors found that Rab11a can interact with both myosin Va and myosin Vb tails independent of their splice isoform.
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