HsaEX0041193 @ hg38
Exon Skipping
Gene
ENSG00000197535 | MYO5A
Description
myosin VA [Source:HGNC Symbol;Acc:HGNC:7602]
Coordinates
chr15:52346361-52351481:-
Coord C1 exon
chr15:52351254-52351481
Coord A exon
chr15:52348818-52348826
Coord C2 exon
chr15:52346361-52346461
Length
9 bp
Sequences
Splice sites
3' ss Seq
TGCTGACTTGTGATTCTCAGGAT
3' ss Score
6.27
5' ss Seq
AAGGTAATT
5' ss Score
8.83
Exon sequences
Seq C1 exon
CGTCAAGAACTAGAATCAGAAAACAAAAAACTGAAGAATGAGCTAAATGAGTTGCGCAAGGCCCTCAGTGAGAAAAGTGCCCCAGAGGTGACCGCCCCAGGTGCACCTGCCTACCGTGTCCTCATGGAGCAGCTGACCTCTGTGAGCGAGGAGCTTGATGTCCGCAAGGAGGAAGTCCTCATCTTAAGGTCTCAACTGGTGAGCCAGAAAGAGGCCATCCAACCCAAG
Seq A exon
GATGACAAG
Seq C2 exon
AATACAATGACAGATTCCACAATACTTTTGGAAGATGTACAAAAAATGAAAGATAAAGGTGAAATAGCACAAGCATACATTGGTTTGAAAGAAACAAATAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197535_CASSETTE4
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.566 A=1.000 C2=0.390
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Other Inclusion Isoforms:
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AAAGAGGCCATCCAACCCAAG
R:
CAAACCAATGTATGCTTGTGCT
Band lengths:
108-117
Functional annotations
There are 2 annotated functions for this event
PMID: 17029413
DLC2 was found to bind as a homodimer to a approximately 15 residue segment (Ile1280-Ile1294) localized between the medial and distal coiled-coil domains of the tail of MYO5A. The binding region contains the three residues coded by the alternatively spliced microexon B (Asp1284-Lys1286). Removal of microexon B eliminates DLC2 binding. Co-localization experiments in a transfected mammalian cell line confirm the finding that exon B is essential for DLC2 binding.
PMID: 16981716
Microexon B constitutes an essential part of the DYNLL2 binding site. A brain-specific isoform in which exon B is skipped can no longer interact with DYNLL2. These data show that alternative splicing of the myosin Va heavy chain controls DYNLL2-myosin Va interaction and that DYNLL2 binding alters the structure of a portion of the myosin's coiled-coil domain. These results suggest that exon B could have a significant impact on the conformation and regulatory folding of native myosin Va, as well as on its interaction with certain cargos.
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