HsaEX0041251 @ hg19
Exon Skipping
Gene
ENSG00000137474 | MYO7A
Description
myosin VIIA [Source:HGNC Symbol;Acc:7606]
Coordinates
chr11:76890091-76891527:+
Coord C1 exon
chr11:76890091-76890175
Coord A exon
chr11:76890781-76890999
Coord C2 exon
chr11:76891420-76891527
Length
219 bp
Sequences
Splice sites
3' ss Seq
TGGGGTGGCTGTCCTTGCAGATG
3' ss Score
8.41
5' ss Seq
GAGGTGAGG
5' ss Score
8.41
Exon sequences
Seq C1 exon
GTCTAACTTTCTGAAGCTGAAGAACGCTGCCACACTGATCCAGAGGCACTGGCGGGGTCACAACTGTAGGAAGAACTACGGGCTG
Seq A exon
ATGCGTCTGGGCTTCCTGCGGCTGCAGGCCCTGCACCGCTCCCGGAAGCTGCACCAGCAGTACCGCCTGGCCCGCCAGCGCATCATCCAGTTCCAGGCCCGCTGCCGCGCCTATCTGGTGCGCAAGGCCTTCCGCCACCGCCTCTGGGCTGTGCTCACCGTGCAGGCCTATGCCCGGGGCATGATCGCCCGCAGGCTGCACCAACGCCTCAGGGCTGAG
Seq C2 exon
TATCTGTGGCGCCTCGAGGCTGAGAAAATGCGGCTGGCGGAGGAAGAGAAGCTTCGGAAGGAGATGAGCGCCAAGAAGGCCAAGGAGGAGGCCGAGCGCAAGCATCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000137474_CASSETTE2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.583
Domain overlap (PFAM):
C1:
PF0061222=IQ=WD(100=72.4)
A:
PF0061222=IQ=WD(100=28.8),PF0061222=IQ=WD(100=28.8)
C2:
NO
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACTTTCTGAAGCTGAAGAACGCT
R:
CTGATGCTTGCGCTCGGC
Band lengths:
188-407
Functional annotations
There are 0 annotated functions for this event
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)