HsaEX0041193 @ hg19
Exon Skipping
Gene
ENSG00000197535 | MYO5A
Description
myosin VA (heavy chain 12, myoxin) [Source:HGNC Symbol;Acc:7602]
Coordinates
chr15:52638558-52643678:-
Coord C1 exon
chr15:52643451-52643678
Coord A exon
chr15:52641015-52641023
Coord C2 exon
chr15:52638558-52638658
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-MICROEX1-1/2
Average complexity
MIC_M
Mappability confidence:
NA
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.575 A=1.000 C2=0.395
Domain overlap (PFAM):
C1:
PF075586=Shugoshin_N=WD(100=30.3)
A:
NO
C2:
NO
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
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
This event
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
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)