HsaEX0041250 @ hg38
Exon Skipping
Gene
ENSG00000137474 | MYO7A
Description
myosin VIIA [Source:HGNC Symbol;Acc:HGNC:7606]
Coordinates
chr11:77162120-77166162:+
Coord C1 exon
chr11:77162120-77162330
Coord A exon
chr11:77162853-77162988
Coord C2 exon
chr11:77166056-77166162
Length
136 bp
Sequences
Splice sites
3' ss Seq
GCTGCCCCTCCACTCCCCAGGGC
3' ss Score
8.58
5' ss Seq
AAGGTACAG
5' ss Score
8.04
Exon sequences
Seq C1 exon
CTTTGAGCAGCTCTGCATCAACTTCGCCAATGAGCACCTGCAGCAGTTCTTTGTGCGGCACGTGTTCAAGCTGGAGCAGGAGGAATATGACCTGGAGAGCATTGACTGGCTGCACATCGAGTTCACTGACAACCAGGATGCCCTGGACATGATTGCCAACAAGCCCATGAACATCATCTCCCTCATCGATGAGGAGAGCAAGTTCCCCAAG
Seq A exon
GGCACAGACACCACCATGTTACACAAGCTGAACTCCCAGCACAAGCTCAACGCCAACTACATCCCCCCCAAGAACAACCATGAGACCCAGTTTGGCATCAACCATTTTGCAGGCATCGTCTACTATGAGACCCAAG
Seq C2 exon
GCTTCCTGGAGAAGAACCGAGACACCCTGCATGGGGACATTATCCAGCTGGTCCACTCCTCCAGGAACAAGTTCATCAAGCAGATCTTCCAGGCCGATGTCGCCATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000137474_CASSETTE1
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.196 C2=0.000
Domain overlap (PFAM):
C1:
PF0006316=Myosin_head=FE(10.6=100)
A:
PF0006316=Myosin_head=FE(6.8=100)
C2:
PF0006316=Myosin_head=FE(5.3=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCATCAACTTCGCCAATGAGC
R:
GAGGAGTGGACCAGCTGGATA
Band lengths:
258-394
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development